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
BAGE2	85319	broad.mit.edu	37	21	11039364	11039364	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:11039364C>T	ENST00000470054.1	-	0	839									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTTCACTTCAGAAGACATT	0.358000													6	154					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31701617	31701617	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31701617G>A	ENST00000375780.2	-	4	843	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	CLIC1_ENST00000395892.1_Missense_Mutation_p.P91S|CLIC1_ENST00000375784.3_Missense_Mutation_p.P91S|CLIC1_ENST00000375779.2_Missense_Mutation_p.P91S			O00299	CLIC1_HUMAN	chloride intracellular channel 1	91					signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CTATACCTGGGAGGGCACAGC	0.552000													62	68					0	0	1	0	0
CAPZA1	829	broad.mit.edu	37	1	113197147	113197147	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:113197147A>C	ENST00000263168.3	+	5	952	c.280A>C	c.(280-282)Att>Ctt	p.I94L	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	94					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAACAAAATTTCCTTTAA	0.398000													31	92					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22323143	22323143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:22323143G>A	ENST00000398793.2	-	7	1020	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	TOP3B_ENST00000357179.5_Nonsense_Mutation_p.Q196*|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	196					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TATTTAGTCTGAAACCTGGAG	0.498000													55	63					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6873690	6873690	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:6873690G>A	ENST00000419673.2	+	8	868	c.651G>A	c.(649-651)ggG>ggA	p.G217G	ARHGAP28_ENST00000532996.1_Silent_p.G199G|ARHGAP28_ENST00000262227.3_Silent_p.G324G|ARHGAP28_ENST00000383472.4_Silent_p.G376G|ARHGAP28_ENST00000400091.2_Silent_p.G376G|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000314319.3_Silent_p.G217G|ARHGAP28_ENST00000418986.1_Silent_p.G217G|ARHGAP28_ENST00000531294.1_Silent_p.G212G	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	199					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AAGACAATGGGATTTTTGGAG	0.403000													10	23					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029137	76029137	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76029137A>C	ENST00000319211.4	+	2	1352	c.1087A>C	c.(1087-1089)Agc>Cgc	p.S363R		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	363					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGCAGCATAAGCTGCTGCAT	0.493000													34	50					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640614	29640614	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29640614G>A	ENST00000376883.1	-	6	1625	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	ZFP57_ENST00000376881.3_Missense_Mutation_p.S405F|ZFP57_ENST00000488757.1_Missense_Mutation_p.S425F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	341					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GACCAGCCTGGAAAATGAGCT	0.517000													92	109					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52130706	52130706	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52130706G>A	ENST00000296484.2	-	10	1043	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	POC1A_ENST00000394970.2_Intron|POC1A_ENST00000474012.1_Missense_Mutation_p.P297L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	335						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTGCCTGGGGGGACAGGGAA	0.552000													41	102					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55942327	55942327	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55942327C>T	ENST00000244728.5	-	18	2254	c.1857_splice	c.e18+1	p.K619_splice	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Splice_Site_p.K616_splice|COL21A1_ENST00000370808.2_Splice_Site_p.K19_splice|COL21A1_ENST00000535941.1_Splice_Site_p.K619_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	619	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATACTTACCTTTTGGCCCA	0.313000													6	7					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071507	240071507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240071507G>A	ENST00000255380.4	+	5	1535	c.756G>A	c.(754-756)tgG>tgA	p.W252*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	252					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTTTATACTGGAGGATCTATA	0.478000													9	74					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76134767	76134767	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76134767T>C	ENST00000318430.5	+	14	2151	c.1777T>C	c.(1777-1779)Tac>Cac	p.Y593H	TMC8_ENST00000589691.1_Missense_Mutation_p.Y370H|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	593						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGCCCTCCACTACCTGGGCTC	0.672000													19	46					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145052077	145052077	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145052077T>C	ENST00000313028.7	-	10	2823	c.2729A>G	c.(2728-2730)aAc>aGc	p.N910S	PARP10_ENST00000525773.1_Missense_Mutation_p.N922S|PARP10_ENST00000524918.1_Missense_Mutation_p.N901S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	910	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCTCACCGTTGCGGCCGCA	0.726000													4	27					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739546	12739546	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12739546C>T	ENST00000343325.4	+	4	1365	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.I369I|ZNF791_ENST00000540038.1_Silent_p.I292I|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATTTGAAAATCCACAAGAGAA	0.373000													57	65					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343158	48343158	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48343158C>T	ENST00000221996.7	+	4	1040	c.834C>T	c.(832-834)ttC>ttT	p.F278F	CRX_ENST00000539067.1_Silent_p.F278F|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	278					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTGGAAATTCACCTACAATC	0.577000													75	115					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2997175	2997175	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2997175C>T	ENST00000489288.2	+	3	419	c.267C>T	c.(265-267)tcC>tcT	p.S89S	RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Silent_p.S75S	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		CTACCACCTCCAAGTTTCCAC	0.483000													11	15					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492553	198492553	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:198492553C>T	ENST00000367381.1	-	5	448	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.E109K|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.E109K|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.E115K			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	109					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ACATGGATTTCTGGTTTCATG	0.398000													11	3					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63042954	63042954	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:63042954A>G	ENST00000251157.5	-	18	2124	c.2091T>C	c.(2089-2091)gcT>gcC	p.A697A	DOCK7_ENST00000340370.5_Silent_p.A697A	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	697	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTACAGAATAAGCCTGTGGTG	0.398000													8	39					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154091211	154091211	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154091211A>C	ENST00000368559.3	-	11	1471	c.1400T>G	c.(1399-1401)cTt>cGt	p.L467R	NUP210L_ENST00000271854.3_Missense_Mutation_p.L467R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	467						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTGGGTGTAAGCATGATGGG	0.348000													8	87					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419980	41419980	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:41419980C>T	ENST00000373198.3	-	3	576	c.341G>A	c.(340-342)aGg>aAg	p.R114K	PTPRT_ENST00000373184.1_Missense_Mutation_p.R114K|PTPRT_ENST00000356100.2_Missense_Mutation_p.R114K|PTPRT_ENST00000373187.1_Missense_Mutation_p.R114K|PTPRT_ENST00000373201.1_Missense_Mutation_p.R114K|PTPRT_ENST00000373193.3_Missense_Mutation_p.R114K|PTPRT_ENST00000373190.1_Missense_Mutation_p.R114K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	114	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R114K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGCTGGACCTGTCACGGCT	0.602000													26	37					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124397059	124397059	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124397059C>T	ENST00000360013.3	+	50	7343	c.7216C>T	c.(7216-7218)Cta>Tta	p.L2406L	KALRN_ENST00000462213.1_Silent_p.L23L|KALRN_ENST00000291478.4_Silent_p.L709L|KALRN_ENST00000428018.2_Silent_p.L677L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2405					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGGCATACTCTACGCATGAG	0.507000													185	8					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120741623	120741623	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:120741623C>T	ENST00000202967.4	+	2	318	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	87	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	p.R87S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCACTGACCGCAGGCCCAT	0.567000													26	0					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19140892	19140892	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:19140892T>C	ENST00000269214.5	-	8	2818	c.1881A>G	c.(1879-1881)acA>acG	p.T627T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	627					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GATTTGAAGCTGTATACAGCA	0.338000													25	39					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11941997	11941997	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:11941997C>T	ENST00000339865.5	+	9	1733	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S	USP47_ENST00000527733.1_Missense_Mutation_p.P392S|USP47_ENST00000399455.2_Missense_Mutation_p.P412S|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	412					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGACATTTCCCGAGGAACT	0.313000													23	28					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266305	43266305	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43266305C>T	ENST00000372585.5	+	1	304	c.209C>T	c.(208-210)cCc>cTc	p.P70L	SLC22A7_ENST00000372589.3_Missense_Mutation_p.P70L|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.P70L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	70						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCCCATCTTCCCCGGGAGCCT	0.662000													20	27					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754854	49754854	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:49754854C>T	ENST00000304801.3	-	1	199	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	16					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GACTCGCTTCCCTCTAACATC	0.408000													36	28					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4345113	4345113	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:4345113A>C	ENST00000358065.4	+	1	126	c.59A>C	c.(58-60)aAg>aCg	p.K20T	SETMAR_ENST00000425863.1_Missense_Mutation_p.K20T|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.K20T	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	7	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TTTAAGGAGAAGCCTGAGGCC	0.672000								Chromatin Structure					5	16					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232335	35232335	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35232335A>T	ENST00000392232.3	+	6	1349	c.1181A>T	c.(1180-1182)gAg>gTg	p.E394V	ZNF181_ENST00000492450.1_Missense_Mutation_p.E350V|ZNF181_ENST00000459757.1_Missense_Mutation_p.E349V			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAACTCTATGAGTGTCGTATA	0.383000													7	58					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610131	95610131	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95610131G>A	ENST00000395505.2	-	3	922	c.830C>T	c.(829-831)tCc>tTc	p.S277F	ZNF484_ENST00000332591.6_Missense_Mutation_p.S277F|ZNF484_ENST00000395506.3_Missense_Mutation_p.S315F|ZNF484_ENST00000375495.3_Missense_Mutation_p.S313F|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGACTTGAGGGAAAAATCCTT	0.433000													22	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592872	179592872	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179592872C>T	ENST00000589042.1	-	67	19903	c.19679G>A	c.(19678-19680)gGa>gAa	p.G6560E	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6243E|TTN_ENST00000342992.6_Missense_Mutation_p.G5316E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6243	Ig-like 47.						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)			TGCATCATCTCCTGCTACATT	0.383000													11	10					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682777	100682777	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100682777T>C	ENST00000306151.4	+	3	8144	c.8080T>C	c.(8080-8082)Tta>Cta	p.L2694L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2694	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCACTCCATTAACAAATAT	0.498000													12	400					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471012	8471012	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:8471012C>T	ENST00000381196.4	-	28	4030	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	PTPRD_ENST00000486161.1_Missense_Mutation_p.E752K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1163K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E752K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1150K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E742K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E749K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E742K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1163K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E749K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1141K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1163					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATTCCATTTCATCTGGACTC	0.408000										TSP Lung(15;0.13)			19	57					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42120003	42120003	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42120003G>A	ENST00000400107.1	+	0	815				MEI1_ENST00000300398.4_De_novo_Start_OutOfFrame|MEI1_ENST00000401548.3_Missense_Mutation_p.D264N|MEI1_ENST00000540833.1_Missense_Mutation_p.D4N			Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1								binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGAACCAGGATGGACTGGG	0.458000													7	15					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47547126	47547126	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:47547126T>C	ENST00000359314.5	+	9	1365	c.909T>C	c.(907-909)acT>acC	p.T303T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	303	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTAGGAGACTGGAGAAGCTG	0.383000													11	38					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916458	10916458	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10916458A>C	ENST00000298232.7	-	19	1501	c.1134T>G	c.(1132-1134)taT>taG	p.Y378*	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Nonsense_Mutation_p.Y396*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y358*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	396	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGTGCAAAATATGCAACAT	0.338000													6	54					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779216	52779216	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:52779216T>A	ENST00000257951.3	-	1	220	c.154A>T	c.(154-156)Agt>Tgt	p.S52C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	52	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACACTCCGACTACCAAAGCTG	0.577000													3	27					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132799	154132799	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:154132799C>T	ENST00000360256.4	-	17	5787	c.5586_splice	c.e17-1	p.E1863_splice		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1863	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACATCTTTTTCCTAGGGAGGG	0.478000													15	21					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586601	143586601	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:143586601G>A	ENST00000507359.2	+	2	1415	c.324G>A	c.(322-324)agG>agA	p.R108R	KCTD16_ENST00000512467.1_Silent_p.R108R	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	108						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTGAAAAGGGAAGCTGAAT	0.468000													10	18					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007541	99007541	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:99007541G>A	ENST00000342502.2	-	3	1286	c.875C>T	c.(874-876)tCc>tTc	p.S292F	IKBIP_ENST00000420861.1_Missense_Mutation_p.S186F|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	292					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCTAAACGGGAAAAGTCCTT	0.348000													27	2					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158167768	158167768	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:158167768G>A	ENST00000259056.4	+	10	3216	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	911	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATGCTTGGAAGGAAATTTTTC	0.378000													14	43					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48272458	48272458	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48272458C>T	ENST00000225964.5	-	20	1421	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	435	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCACCAGGTTCACCCTGCAAG	0.632000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						24	1					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181451	140181451	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140181451T>C	ENST00000522353.2	+	1	669	c.669T>C	c.(667-669)acT>acC	p.T223T	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T223T	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCACTGGCACGACTC	0.403000													11	27					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37430005	37430005	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37430005C>T	ENST00000234170.5	-	15	3092	c.2947G>A	c.(2947-2949)Ggc>Agc	p.G983S	AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_3'UTR|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000406711.1_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	983					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AATAGATGGCCAAACTTTTAA	0.294000													17	13					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38980008	38980008	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38980008A>G	ENST00000355481.4	+	35	5870	c.5739A>G	c.(5737-5739)gcA>gcG	p.A1913A	RYR1_ENST00000360985.3_Silent_p.A1913A|RYR1_ENST00000359596.3_Silent_p.A1913A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1913	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aagaggaggCAGCAGAAGGGG	0.522000													13	42					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327208	16327208	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:16327208G>A	ENST00000244769.4	-	8	2270	c.1334C>T	c.(1333-1335)cCg>cTg	p.P445L	ATXN1_ENST00000436367.1_Missense_Mutation_p.P445L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	445					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAGTCCCACCGGGAGTGGCTC	0.627000													79	147					0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73714956	73714956	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73714956T>G	ENST00000314032.4	-	6	1292	c.740A>C	c.(739-741)aAc>aCc	p.N247T	UCP3_ENST00000348534.4_Missense_Mutation_p.N145T|UCP3_ENST00000426995.2_Missense_Mutation_p.N247T	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	247					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGGAGGTGAGTTCATATACCG	0.602000													16	64					0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205661	88205661	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:88205661C>T	ENST00000318887.3	+	3	1176	c.866C>T	c.(865-867)cCa>cTa	p.P289L	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	289					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTACCGAAACCATCTGTTAAA	0.388000													20	23					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294572	219294572	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219294572G>A	ENST00000248444.5	+	9	938	c.849_splice	c.e9-1	p.D284_splice	VIL1_ENST00000392114.2_5'UTR|VIL1_ENST00000440053.1_Splice_Site_p.D284_splice	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	284	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGACTCTAGGACTGTTACAT	0.567000													14	15					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116836411	116836411	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:116836411G>A	ENST00000265132.3	-	4	621	c.359C>T	c.(358-360)tCc>tTc	p.S120F		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	120					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GACCACATAGGACTCCATGGT	0.493000													16	26					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48419920	48419920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:48419920G>A	ENST00000296438.5	+	6	705	c.519G>A	c.(517-519)tgG>tgA	p.W173*	FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000445170.1_Nonsense_Mutation_p.W154*|FBXW12_ENST00000436231.1_Nonsense_Mutation_p.W16*	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	173										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAAAGTGTGGAACTGTCAGG	0.498000													10	22					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440145	40440145	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40440145C>T	ENST00000319592.4	-	4	1475	c.766G>A	c.(766-768)Gag>Aag	p.E256K	RBM47_ENST00000381795.6_Missense_Mutation_p.E256K|RBM47_ENST00000295971.7_Missense_Mutation_p.E256K|RBM47_ENST00000381793.2_Missense_Mutation_p.E256K|RBM47_ENST00000514014.1_Missense_Mutation_p.E218K|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	256	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCGGTGGTCTCGATCATGAGG	0.607000													42	33					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24178848	24178848	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24178848G>A	ENST00000397649.3	+	0	750				ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000265769.4_Intron|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Intron			Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTTGCTGGGAGATGTCACTGG	0.408000													4	25					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171320939	171320939	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:171320939A>C	ENST00000356327.5	-	26	3110	c.3040T>G	c.(3040-3042)Ttg>Gtg	p.L1014V	PLD1_ENST00000351298.4_Missense_Mutation_p.L1052V|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1052					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCTTCAGACAAGAAATAAAAG	0.443000													16	120					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30963155	30963155	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:30963155C>T	ENST00000311813.4	+	4	776	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	AQP1_ENST00000441328.2_Missense_Mutation_p.R158C|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Missense_Mutation_p.R190C|AQP1_ENST00000409899.1_Missense_Mutation_p.R126C|AQP1_ENST00000509504.1_Missense_Mutation_p.R418C|AQP1_ENST00000434909.2_Missense_Mutation_p.R301C	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				CCTCACAGACCGCGTGAAGGT	0.587000													30	19					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134062709	134062709	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134062709T>G	ENST00000359428.5	+	25	3597	c.3453T>G	c.(3451-3453)ccT>ccG	p.P1151P	NUP214_ENST00000451030.1_Silent_p.P1152P|NUP214_ENST00000411637.2_Silent_p.P1141P			P35658	NU214_HUMAN	nucleoporin 214kDa	1151	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAAAACACCTCACCCAGTGT	0.393000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								3	63					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188288	7188288	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:7188288C>T	ENST00000486284.1	+	2	943	c.669C>T	c.(667-669)acC>acT	p.T223T	GRM7_ENST00000357716.4_Silent_p.T223T|GRM7_ENST00000389336.4_Silent_p.T223T|GRM7_ENST00000403881.1_Silent_p.T223T|GRM7_ENST00000402647.2_Silent_p.T223T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	223					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATGTGTCTACCCTCGCATCGG	0.522000													21	37					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75282899	75282899	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:75282899A>C	ENST00000524558.1	+	5	2463	c.1028A>C	c.(1027-1029)aAg>aCg	p.K343T	SERPINH1_ENST00000533603.1_Missense_Mutation_p.K343T|SERPINH1_ENST00000358171.3_Missense_Mutation_p.K343T|SERPINH1_ENST00000525876.1_Missense_Mutation_p.K126T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	343					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ATGTCAGGCAAGAAGGACCTG	0.592000													9	38					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31701616	31701616	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31701616G>A	ENST00000375780.2	-	4	844	c.272C>T	c.(271-273)cCc>cTc	p.P91L	CLIC1_ENST00000395892.1_Missense_Mutation_p.P91L|CLIC1_ENST00000375784.3_Missense_Mutation_p.P91L|CLIC1_ENST00000375779.2_Missense_Mutation_p.P91L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	91					signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CCTATACCTGGGAGGGCACAG	0.552000													61	70					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157789804	157789804	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157789804C>T	ENST00000358292.3	-	1	75	c.24G>A	c.(22-24)ttG>ttA	p.L8L	FCRL1_ENST00000368176.3_Silent_p.L8L|FCRL1_ENST00000491942.1_Silent_p.L8L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	8						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACCACAGATCAACAGCAACA	0.527000													12	49					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611691	50611691	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50611691A>G	ENST00000444124.2	-	2	293	c.93T>C	c.(91-93)ccT>ccC	p.P31P	DDC_ENST00000431062.1_Silent_p.P31P|DDC_ENST00000426377.1_Silent_p.P31P|DDC_ENST00000380984.4_Silent_p.P31P|DDC_ENST00000357936.5_Silent_p.P31P	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	31					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCTCCACGTCAGGGTAGACCT	0.562000													37	200					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050921	49050921	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49050921A>C	ENST00000395474.3	+	2	2324	c.2044A>C	c.(2044-2046)Aac>Cac	p.N682H	WDR6_ENST00000448293.1_Missense_Mutation_p.N601H|WDR6_ENST00000415265.2_Missense_Mutation_p.N100H	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	652					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCACATCGTCAACTGTGGTGG	0.557000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	48					0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97164169	97164169	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:97164169C>T	ENST00000310865.3	-	0	923									neuralized E3 ubiquitin protein ligase 3																		ATGGCACACTCCTCTCCTGGT	0.587000													4	23					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36482513	36482513	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:36482513T>G	ENST00000342292.4	-	11	6959	c.6939A>C	c.(6937-6939)caA>caC	p.Q2313H	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2313						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGAAGGTCCTTGTAGTTCTC	0.527000													30	114					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306828	54306828	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:54306828C>T	ENST00000545554.1	+	1	1728	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	UNC13C_ENST00000260323.11_Silent_p.S576S|UNC13C_ENST00000537900.1_Silent_p.S576S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTAATGGAAGCTCTCTCCTGT	0.438000													18	2					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197559098	197559098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197559098C>T	ENST00000438796.2	+	8	1056	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	LRCH3_ENST00000441090.2_Nonsense_Mutation_p.R212*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R338*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R338*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	338						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCTGCCTCTTCGAGTAGCAGA	0.408000													10	67					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69339850	69339850	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:69339850C>G	ENST00000260364.5	+	13	2037	c.1736C>G	c.(1735-1737)gCt>gGt	p.A579G	NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000530406.2_Missense_Mutation_p.A569G|NOX5_ENST00000448182.3_Missense_Mutation_p.A551G|NOX5_ENST00000388866.3_Missense_Mutation_p.A597G|NOX5_ENST00000455873.3_Missense_Mutation_p.A562G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	597					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ACCCCCTTTGCTTCCATTCTG	0.607000													19	2					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960991	26960991	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26960991A>G	ENST00000528896.2	-	17	3258	c.3184T>C	c.(3184-3186)Ttg>Ctg	p.L1062L	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.L919L|KIAA0100_ENST00000544884.1_Silent_p.L919L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1062						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCAAGTGCAAGATCTGACGC	0.562000													20	75					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22167505	22167505	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22167505T>G	ENST00000356766.6	+	15	1866	c.1718T>G	c.(1717-1719)aTt>aGt	p.I573S	PIWIL2_ENST00000521356.1_Missense_Mutation_p.I573S|PIWIL2_ENST00000454009.2_Missense_Mutation_p.I573S	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	573					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGGAAAGAATTAACTTAAAA	0.358000													26	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179529612	179529612	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179529612G>A	ENST00000589042.1	-	166	36309	c.36085C>T	c.(36085-36087)Cct>Tct	p.P12029S	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10177	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGAAGGAACTGTCTTG	0.373000													4	14					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850792	216850792	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:216850792G>A	ENST00000391890.3	-	4	546	c.29C>T	c.(28-30)tCc>tTc	p.S10F	ESRRG_ENST00000366938.2_Missense_Mutation_p.S10F|ESRRG_ENST00000493603.1_Missense_Mutation_p.S10F|ESRRG_ENST00000366937.1_Missense_Mutation_p.S38F|ESRRG_ENST00000361525.3_Missense_Mutation_p.S10F|ESRRG_ENST00000361395.2_Missense_Mutation_p.S10F|ESRRG_ENST00000408911.3_Missense_Mutation_p.S33F|ESRRG_ENST00000493748.1_Missense_Mutation_p.S10F|ESRRG_ENST00000487276.1_Missense_Mutation_p.S10F|ESRRG_ENST00000366940.2_Missense_Mutation_p.S10F|ESRRG_ENST00000359162.2_Missense_Mutation_p.S10F|ESRRG_ENST00000360012.3_Missense_Mutation_p.S10F|ESRRG_ENST00000463665.1_Missense_Mutation_p.S10F	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	33					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CGAACAGCTGGAATCAATGTG	0.527000													14	36					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192169	211192169	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:211192169A>T	ENST00000271751.4	-	6	1015	c.988T>A	c.(988-990)Ttt>Att	p.F330I	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	330					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGATCAGCAAAACCAATCTTC	0.443000													67	68					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521768	89521768	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:89521768G>A	ENST00000336596.2	+	16	3070	c.2846_splice	c.e16+1	p.D949_splice	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	949	SAM.					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)		GATTTCCACAGAGTAAGAAAA	0.383000										TSP Lung(6;0.00050)			39	16					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531956	140531956	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140531956C>T	ENST00000231136.1	+	1	2118	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	PCDHB6_ENST00000543635.1_Silent_p.F570F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		706					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.682000													47	78					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133914	22133914	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22133914C>T	ENST00000408935.1	+	1	618	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTGGAACCATCTCCCTCTCCT	0.483000													45	23					0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176988775	176988775	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:176988775A>G	ENST00000249499.6	+	2	1340	c.931A>G	c.(931-933)Acc>Gcc	p.T311A	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	311						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CATGTACCTCACCCGGGACCG	0.507000													7	105					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140674129	140674129	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140674129C>T	ENST00000460843.1	+	14	2262	c.2235C>T	c.(2233-2235)tcC>tcT	p.S745S	EHMT1_ENST00000462484.1_Silent_p.S745S|EHMT1_ENST00000334856.6_Silent_p.S714S|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	745					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGTACTTCTCCGCCAGGCAAG	0.597000													17	37					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886175	144886175	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:144886175T>G	ENST00000369359.4	-	26	3508	c.3470A>C	c.(3469-3471)aAg>aCg	p.K1157T	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1020T|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1020T|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1157T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1086T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1020					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCTTTCCTCTTCTCTTCTAA	0.507000			T	PDGFRB	MPD								13	129					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35806465	35806465	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35806465G>A	ENST00000342694.2	+	16	2704	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	817					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAAGCTGGTGGAGGAACGCAC	0.532000													21	19					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309943	89309943	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:89309943C>T	ENST00000493819.1	-	0	69																											GAGCGGGGACCCTCATGTCCA	0.577000													28	182					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4776516	4776516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:4776516G>A	ENST00000379400.3	-	5	427	c.232C>T	c.(232-234)Cga>Tga	p.R78*	RASSF2_ENST00000379376.2_Nonsense_Mutation_p.R78*	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	78					cell cycle|signal transduction	nucleus	protein binding	p.R78*(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGAGGGGGTCGAATGCGTTCG	0.622000													47	62					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606147	84606147	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84606147G>A	ENST00000344803.2	+	4	809	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.E254D(1)									ATCACATTGAGAGAGTGGAGT	0.517000													85	176					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189449	175189449	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:175189449A>C	ENST00000454872.1	+	9	1684	c.1556A>C	c.(1555-1557)aAa>aCa	p.K519T	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	519					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTCTTCAGAAAAATGTTGTG	0.348000													8	32					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654980	31654980	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:31654980A>G	ENST00000340345.4	-	1	296	c.271T>C	c.(271-273)Tcc>Ccc	p.S91P		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	91						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGCACAGAGGAGTTTGACGGG	0.572000													14	65					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142227244	142227244	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142227244G>A	ENST00000519067.1	-	5	1824	c.1521C>T	c.(1519-1521)gtC>gtT	p.V507V	SLC45A4_ENST00000024061.3_Silent_p.V507V|SLC45A4_ENST00000433583.2_Silent_p.V500V|SLC45A4_ENST00000517878.1_Silent_p.V558V			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	558					transport	integral to membrane		p.V507V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGCCCATCTTGACCCCGGCGT	0.617000													45	51					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22814004	22814004	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:22814004A>G	ENST00000266517.4	+	4	921	c.832A>G	c.(832-834)Agt>Ggt	p.S278G		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	278					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTTCCTAAGTGATATCCC	0.353000													15	50					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516960	158516960	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158516960A>G	ENST00000355585.4	+	27	4130	c.4055A>G	c.(4054-4056)aAc>aGc	p.N1352S	SYNJ2_ENST00000367112.1_Missense_Mutation_p.N437S|SYNJ2_ENST00000367122.2_Missense_Mutation_p.N1307S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1352							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGCAGAGCAACAGCCAGCTT	0.647000													9	20					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495188	32495188	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32495188G>A	ENST00000266088.4	+	12	1549	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L	SLC5A1_ENST00000543737.1_Silent_p.L306L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	433					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCCTGGTGCTGATTGGCATCA	0.408000													76	54					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52518642	52518642	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52518642C>T	ENST00000345716.4	+	14	1776	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	NISCH_ENST00000479054.1_Missense_Mutation_p.P548S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	548	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	p.P548S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGAGTCCATCCCTGCGGGACA	0.597000													49	38					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509498	105509498	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105509498G>A	ENST00000276654.5	-	5	1390	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	LRP12_ENST00000424843.2_Missense_Mutation_p.P409S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	428	LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGAACGAGGATAACAGACA	0.413000													48	55					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165271	123165271	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123165271G>A	ENST00000349780.4	-	34	5299	c.5120C>T	c.(5119-5121)cCg>cTg	p.P1707L	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P1666L|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P1628L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P1675L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1707					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GGACACACACGGAGTGCTAGT	0.572000													37	32					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065895	35065895	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35065895T>G	ENST00000382002.5	-	10	1591	c.1165A>C	c.(1165-1167)Acc>Ccc	p.T389P	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.T288P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.T288P	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	389					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGGTGTGGGTTGTTTCAGGA	0.507000													32	106					0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24897116	24897116	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24897116G>A	ENST00000267406.6	-	3	967	c.497C>T	c.(496-498)aCc>aTc	p.T166I	CBLN3_ENST00000555436.1_Missense_Mutation_p.T115I	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	166	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CACAGAGCTGGTGGCTGCCTC	0.607000													34	54					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626722	43626722	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:43626722C>T	ENST00000332857.6	-	4	1993	c.1965G>A	c.(1963-1965)gtG>gtA	p.V655V		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GCTGGAACTTCACCTTCTGTG	0.562000													23	26					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156921775	156921775	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156921775G>A	ENST00000257527.4	-	15	1701	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	ADAM19_ENST00000517905.1_Silent_p.F541F|ADAM19_ENST00000430702.2_Silent_p.F274F|ADAM19_ENST00000394020.1_Silent_p.F543F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	541	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACCTTCTCGAAGCAGAGGT	0.522000													17	18					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51171491	51171491	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51171491C>T	ENST00000293441.1	-	22	3744	c.3726G>A	c.(3724-3726)agG>agA	p.R1242R	SHANK1_ENST00000391813.1_Silent_p.R629R|SHANK1_ENST00000391814.1_Silent_p.R1250R|SHANK1_ENST00000359082.3_Silent_p.R1233R|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1242					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)		AGCCCCCCTCCCTCCGGGCCG	0.791000													8	6					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275837	150275837	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150275837C>T	ENST00000446148.2	-	7	1439	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ZNF300_ENST00000274599.5_Missense_Mutation_p.E322K|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.E286K|ZNF300_ENST00000394226.2_Missense_Mutation_p.E322K	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAGGTTTCTCCCCAGTATGA	0.398000													19	32					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282221	130282221	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130282221G>A	ENST00000358511.6	+	2	405	c.374G>A	c.(373-375)gGg>gAg	p.G125E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G125E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	125	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCGCAAATGGGAGAGACAAG	0.502000													47	3					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184025197	184025197	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184025197T>G	ENST00000310118.4	+	17	2645	c.2087T>G	c.(2086-2088)cTc>cGc	p.L696R	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L566R|PSMD2_ENST00000435761.1_Missense_Mutation_p.L537R	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	696					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCACTGGCCCTCATCTCTGTT	0.448000													15	130					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52903335	52903335	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:52903335A>C	ENST00000261844.7	-	5	674	c.522T>G	c.(520-522)atT>atG	p.I174M	FAM214A_ENST00000546305.2_Missense_Mutation_p.I181M	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	174																	ACCTGTAGAGAATATTTCGTG	0.408000													26	33					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184802	118184802	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:118184802G>A	ENST00000427715.2	+	11	1279	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	SLC30A8_ENST00000519688.1_Missense_Mutation_p.R282Q|SLC30A8_ENST00000456015.2_Missense_Mutation_p.R331Q|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R282Q	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	331					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAAGTGGTTCGGAGAGAAATT	0.507000													65	61					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55069588	55069588	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55069588T>A	ENST00000371316.3	+	11	1212	c.1130T>A	c.(1129-1131)gTc>gAc	p.V377D	ACOT11_ENST00000343744.2_Missense_Mutation_p.V377D|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	377	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCCTCTCCGTCCCCTGGGAC	0.582000													17	96					0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954454	10954454	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10954454G>A	ENST00000240687.2	-	1	772	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	239					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GAGAAGGAAGGAAATGACAGC	0.507000													19	26					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49071632	49071632	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49071632G>A	ENST00000376265.2	-	29	3605	c.3544C>T	c.(3544-3546)Cgt>Tgt	p.R1182C	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1171C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1117C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1182					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R1182C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCCCACACACGATACTGATGC	0.562000													26	1					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167038168	167038168	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167038168A>G	ENST00000367868.3	-	3	749	c.406T>C	c.(406-408)Ttg>Ctg	p.L136L	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	136						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCGAGGACCAACAGGCGGACA	0.567000													6	27					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60453509	60453509	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:60453509T>C	ENST00000400324.4	-	21	2681	c.2461A>G	c.(2461-2463)Atg>Gtg	p.M821V	DIAPH3_ENST00000377908.2_Missense_Mutation_p.M810V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.M821V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.M775V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.M821V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.M751V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	821	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGACAGCCATGATGTCAGGT	0.443000													15	39					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63821675	63821675	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:63821675A>G	ENST00000233114.8	+	2	492	c.57A>G	c.(55-57)tcA>tcG	p.S19S	MDH1_ENST00000409476.1_Intron|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000544381.1_5'UTR|MDH1_ENST00000539945.1_Silent_p.S37S|MDH1_ENST00000394423.1_Silent_p.S19S	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	19					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TTGCATATTCACTGCTGTACA	0.358000													15	30					0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82348391	82348391	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:82348391A>G	ENST00000339284.2	+	4	931	c.501A>G	c.(499-501)aaA>aaG	p.K167K	SH2D4B_ENST00000313455.4_Silent_p.K118K|SH2D4B_ENST00000470604.2_Silent_p.K166K	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	166	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TTTAGAGGAAAGAGGAAGAGG	0.507000													5	21					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139157480	139157480	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:139157480G>A	ENST00000280612.5	-	2	682	c.404_splice	c.e2+1	p.R135_splice		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	135					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TGCTCTTACCGTATTATGAGG	0.338000													16	12					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524441	51524441	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51524441G>A	ENST00000371117.3	-	61	10758	c.10483C>T	c.(10483-10485)Ctc>Ttc	p.L3495F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3495					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)					ACAGCCAAGAGAAGCTTGGAG	0.448000													31	54					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459683	122459683	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122459683T>G	ENST00000306103.2	-	8	1119	c.976A>C	c.(976-978)Aat>Cat	p.N326H	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	326						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCATTTAAGTAGCAA	0.383000													47	66					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123307951	123307951	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:123307951C>T	ENST00000253079.6	+	12	2384	c.2040C>T	c.(2038-2040)acC>acT	p.T680T	CCDC62_ENST00000392441.4_Intron|CCDC62_ENST00000392440.2_Silent_p.T441T|CCDC62_ENST00000537566.1_Silent_p.T441T	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	680						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAAAAAATACCTTTGTCAGTT	0.343000													28	7					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114530088	114530088	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:114530088C>T	ENST00000357389.3	-	12	1639	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Missense_Mutation_p.G180E|GAS6_ENST00000327773.6_Missense_Mutation_p.G453E|GAS6_ENST00000418959.3_Missense_Mutation_p.G154E|GAS6_ENST00000355761.4_Missense_Mutation_p.G399E			Q14393	GAS6_HUMAN	growth arrest-specific 6	496	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGTGTCTTCTCCGTTCAGCCA	0.577000													35	33					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46896636	46896636	+	Missense_Mutation	SNP	G	G	A	rs150681693	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46896636G>A	ENST00000378623.1	-	28	4186	c.3944C>T	c.(3943-3945)tCg>tTg	p.S1315L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1315					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCCATTTCTCGAGCCGCACTT	0.542000													19	17					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33462066	33462066	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:33462066A>C	ENST00000265112.3	+	15	1996	c.1685A>C	c.(1684-1686)cAg>cCg	p.Q562P	TARS_ENST00000541634.1_Missense_Mutation_p.Q458P|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000414361.2_Missense_Mutation_p.Q441P|TARS_ENST00000455217.2_Missense_Mutation_p.Q595P|TARS_ENST00000502553.1_Missense_Mutation_p.Q562P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	562					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)	GCAACCATCCAGCTGGATTTC	0.388000													5	61					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30709057	30709057	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30709057G>A	ENST00000376389.3	-	5	484	c.264C>T	c.(262-264)ttC>ttT	p.F88F	FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Intron	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	88						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTTCCCCAGGAACATCTGAC	0.577000													60	66					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65349240	65349240	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:65349240C>T	ENST00000330909.8	-	22	3478	c.3479G>A	c.(3478-3480)gGa>gAa	p.G1160E	MAGI1_ENST00000483466.1_Missense_Mutation_p.G1161E|MAGI1_ENST00000402939.2_Missense_Mutation_p.G1132E|MAGI1_ENST00000497477.2_Missense_Mutation_p.G1065E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1161	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGCCAAATCCCTTGGCTCC	0.448000													189	65					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42341250	42341250	+	Silent	SNP	G	G	A	rs148256898		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42341250G>A	ENST00000330743.3	-	5	1919	c.708C>T	c.(706-708)gtC>gtT	p.V236V	LYPD4_ENST00000343055.4_Silent_p.V201V|LYPD4_ENST00000601246.1_Silent_p.V201V	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	236						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGCCTAAGACGACACCCCAAG	0.483000													31	43					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632695	24632695	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24632695T>C	ENST00000396864.3	+	4	760	c.473T>C	c.(472-474)gTg>gCg	p.V158A	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.V56A	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	158					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGTCCCTCTGTGCTCCAGGAC	0.537000													6	73					0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50489269	50489269	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:50489269T>C	ENST00000378195.2	-	4	658	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	SPRYD7_ENST00000361840.3_Missense_Mutation_p.Q174R	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	174	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTCACTGAACTGGCAATCCAA	0.269000													6	39					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150812123	150812123	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150812123G>A	ENST00000358595.5	-	6	480	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	ARNT_ENST00000505755.1_Missense_Mutation_p.H79Y|ARNT_ENST00000515192.1_Missense_Mutation_p.H85Y|ARNT_ENST00000354396.2_Missense_Mutation_p.H94Y	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	94					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTTCACTGTGATTTTCCCTG	0.498000			T	ETV6	AML								14	5					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47036850	47036850	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47036850G>A	ENST00000450053.3	+	13	1804	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	NBEAL2_ENST00000292309.5_Missense_Mutation_p.G542E|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	542							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCCGGCCAGGATTGGACTCG	0.642000													8	15					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6681182	6681182	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6681182G>A	ENST00000518724.1	-	0	648							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTGGCTTCATGAAGCCCATGA	0.592000													5	8					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17440985	17440985	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17440985T>A	ENST00000159087.4	-	10	1380	c.1222A>T	c.(1222-1224)Agt>Tgt	p.S408C		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	408	Leu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCACTCACACTGACAAGCAGG	0.622000													21	69					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94821285	94821285	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:94821285A>C	ENST00000453321.3	+	25	2615	c.2556_splice	c.e25-1	p.K853_splice	TMEM67_ENST00000409623.3_Splice_Site_p.K772_splice	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	853					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTACATTAGAAAAATGGTCC	0.299000													3	36					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100350	168100350	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168100350T>A	ENST00000409195.1	+	9	2537	c.2448T>A	c.(2446-2448)ccT>ccA	p.P816P	XIRP2_ENST00000409273.1_Silent_p.P594P|XIRP2_ENST00000295237.9_Silent_p.P816P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	641					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						AAACCCAACCTTTGGAGAAAA	0.378000													41	30					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385117	62385117	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:62385117C>T	ENST00000383710.4	-	30	4375	c.4026G>A	c.(4024-4026)atG>atA	p.M1342I	CADPS_ENST00000283269.9_Missense_Mutation_p.M1303I|CADPS_ENST00000357948.3_Missense_Mutation_p.M1263I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1342	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCTGTCCTTCATGCTGATGC	0.507000													37	80					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649471	154649471	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:154649471T>C	ENST00000347063.4	-	4	661	c.289A>G	c.(289-291)Acg>Gcg	p.T97A	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	97						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				AATTTTATCGTGAAATATAAG	0.458000													22	74					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24533469	24533469	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24533469G>A	ENST00000355123.4	-	6	888	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	ITSN2_ENST00000361999.3_Missense_Mutation_p.L149F|ITSN2_ENST00000406921.3_Missense_Mutation_p.L149F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	149					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGGAGGAAGGTTGGTCCCT	0.488000													13	43					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642629	37642629	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37642629C>T	ENST00000356958.4	-	5	2430	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.G669G|ZNF585A_ENST00000355533.2_Silent_p.G361G|ZNF585A_ENST00000292841.5_Silent_p.G669G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCCTTCCCACACTCAG	0.468000													26	59					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478457	14478457	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:14478457C>T	ENST00000581457.1	-	0	1451					NR_024076.1																						ACTTACTTTTCGTATTTTTCT	0.453000													4	5					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845853	24845853	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24845853C>T	ENST00000413692.2	+	10	2743	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	NFATC4_ENST00000554344.1_Missense_Mutation_p.P734S|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000422617.3_Missense_Mutation_p.P792S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P734S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P792S|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000250373.4_Missense_Mutation_p.P804S|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000555167.1_Missense_Mutation_p.P339S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P817S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P734S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P836S|NFATC4_ENST00000556759.1_Missense_Mutation_p.P339S|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P92S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P817S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P92S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P836S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000553708.1_Missense_Mutation_p.P804S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	804					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTGGGGCTGCCATTCTCTCC	0.637000													49	100					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154076676	154076676	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154076676A>G	ENST00000368559.3	-	13	1702	c.1631T>C	c.(1630-1632)cTg>cCg	p.L544P	NUP210L_ENST00000271854.3_Missense_Mutation_p.L544P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	544						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTTCAGTTTCAGGACATGTAT	0.373000													7	127					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699219	43699219	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43699219C>T	ENST00000405312.3	-	4	1153	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PSG4_ENST00000433626.2_Missense_Mutation_p.G213R|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	306	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATAAGGTCCTGTTTCATTT	0.498000													116	138					0	0	1	0	0
CRTAP	10491	broad.mit.edu	37	3	33155730	33155730	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:33155730A>T	ENST00000320954.6	+	1	260	c.161A>T	c.(160-162)aAg>aTg	p.K54M	CRTAP_ENST00000449224.1_Missense_Mutation_p.K54M	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	54						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GCGCTGGACAAGTACAGCGGC	0.692000													3	7					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642682	104642682	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104642682C>T	ENST00000315264.7	+	11	3518	c.3140C>T	c.(3139-3141)tCc>tTc	p.S1047F	KIF26A_ENST00000423312.2_Missense_Mutation_p.S1186F			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1186					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCCCCATCCCGACCCGGC	0.711000													7	9					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635336	7635336	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7635336G>A	ENST00000359156.4	-	14	3352	c.3150C>T	c.(3148-3150)tcC>tcT	p.S1050S	CD163_ENST00000541972.1_Silent_p.S1038S|CD163_ENST00000396620.3_Silent_p.S1083S|CD163_ENST00000432237.2_Silent_p.S1050S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1050					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGCAATAAAGGATGACTGAC	0.423000													44	45					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851159	43851159	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:43851159A>C	ENST00000372769.3	+	2	976	c.886A>C	c.(886-888)Aga>Cga	p.R296R		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	296	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TACAGAAGAAAGACAACTTCA	0.388000													23	45					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48537758	48537758	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48537758A>C	ENST00000537810.1	-	48	7084	c.6480T>G	c.(6478-6480)tgT>tgG	p.C2160W	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.C2160W|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.C2160W			O94915	FRYL_HUMAN	FRY-like	2160					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCAGTTAGAACAGTCTCTGG	0.383000													9	17					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902188	247902188	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247902188C>T	ENST00000283225.2	+	1	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GACTCCATCTCCTTCCTGGGG	0.512000													17	50					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703535	52703535	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52703535T>G	ENST00000287727.3	+	4	618	c.446T>G	c.(445-447)cTt>cGt	p.L149R	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L149R|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L149R|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L149R	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	149					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAGAATGTTCTTGTTGTAGCC	0.373000													11	63					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68529011	68529011	+	Missense_Mutation	SNP	G	G	T	rs75908421		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68529011G>T	ENST00000265641.5	-	16	2174	c.2020C>A	c.(2020-2022)Ctt>Att	p.L674I	CPT1A_ENST00000539743.1_Missense_Mutation_p.L674I|CPT1A_ENST00000540367.1_Missense_Mutation_p.L674I|CPT1A_ENST00000376618.2_Missense_Mutation_p.L674I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	674					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTCCTTAAGGAAAGGGGAC	0.448000													57	69					1.59911e-31	1.61532e-31	1	1	0
ADAMTS10	81794	broad.mit.edu	37	19	8661037	8661037	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8661037G>A	ENST00000270328.4	-	10	1523	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	ADAMTS10_ENST00000597188.1_Silent_p.L419L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	419	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGCAGCCATGAGCTTGGCTG	0.597000													54	65					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677636	77677636	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77677636G>A	ENST00000296043.6	+	8	5697	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1582					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATTGCAAGGGAAAGGCACAT	0.448000													9	11					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61749451	61749451	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:61749451T>C	ENST00000423902.2	+	17	4544	c.4065T>C	c.(4063-4065)ccT>ccC	p.P1355P	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1355	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCTCCAAACCTGATTCTGATA	0.478000													42	126					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3638147	3638147	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3638147A>C	ENST00000263087.4	-	21	2717	c.2619T>G	c.(2617-2619)aaT>aaG	p.N873K	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	873					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCTGGGGTAATTCAAGGCCA	0.537000													12	196					0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632000													56	32					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447409	226447409	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:226447409C>T	ENST00000272907.6	+	4	1689	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	426	Pro-rich.																AACCCAGTCTCCCCATGGCTA	0.662000													8	12					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109178087	109178087	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:109178087C>T	ENST00000261483.4	+	17	3677	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	875					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAGTATATAACCGTGAGATTG	0.274000													5	3					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064240	34064240	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:34064240C>T	ENST00000389232.4	+	63	9006	c.8936C>T	c.(8935-8937)tCc>tTc	p.S2979F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2979F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2979					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCACCCATTCCCGAACGCAG	0.468000													15	2					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273795	212273795	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:212273795C>T	ENST00000366991.4	+	14	1777	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.S446F	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	488					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTGTCTCCTCCGTCTCTCCC	0.527000													37	36					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701141	192701141	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:192701141G>A	ENST00000304141.4	-	2	1115	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	262						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACAGATACGATCTTTGTCC	0.418000													61	137					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150906239	150906239	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:150906239G>A	ENST00000474524.1	+	12	1763	c.1725G>A	c.(1723-1725)agG>agA	p.R575R	MED12L_ENST00000273432.4_Silent_p.R435R|MED12L_ENST00000422248.2_Silent_p.R575R|MED12L_ENST00000309237.4_Silent_p.R575R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	575					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCTGTTAAGGTTTTTAGATA	0.373000													74	5					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72416853	72416853	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72416853G>A	ENST00000359373.5	-	13	2657	c.1806C>T	c.(1804-1806)atC>atT	p.I602I	ARAP1_ENST00000393605.3_Silent_p.I362I|ARAP1_ENST00000393609.3_Silent_p.I602I|ARAP1_ENST00000455638.2_Silent_p.I602I|ARAP1_ENST00000426523.1_Silent_p.I357I|ARAP1_ENST00000334211.8_Silent_p.I357I|ARAP1_ENST00000429686.1_Silent_p.I357I			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	602	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCCCACCTCGATAAGTGTTT	0.617000													39	36					0	0	1	0	0
PPIL1	51645	broad.mit.edu	37	6	36823669	36823669	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36823669G>A	ENST00000373699.5	-	4	672	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	141	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ATTCCCACGCGATTCACCATT	0.542000													40	47					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924127	43924127	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:43924127C>T	ENST00000329196.5	+	1	1872	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	619						integral to membrane	aspartic-type endopeptidase activity										CTTCATCCCCCCTGGGGCCTC	0.607000													55	5					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44058187	44058187	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44058187A>T	ENST00000359947.4	+	11	2068	c.1728A>T	c.(1726-1728)acA>acT	p.T576T	PTPRF_ENST00000438120.1_Silent_p.T576T|PTPRF_ENST00000422171.2_Silent_p.T35T|PTPRF_ENST00000372414.3_Silent_p.T576T|PTPRF_ENST00000372413.3_Silent_p.T576T	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	576	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCTGACACACTCTACCGCT	0.597000													70	52					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514597	51514597	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:51514597G>A	ENST00000396402.1	-	5	730	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	CYP19A1_ENST00000559878.1_Missense_Mutation_p.R193C|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R193C|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000405913.3_Missense_Mutation_p.R193C|CYP19A1_ENST00000557858.1_Missense_Mutation_p.R193C|CYP19A1_ENST00000396404.4_Missense_Mutation_p.R193C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	193					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AGCATGACACGACGCAGAAGG	0.488000													12	17					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770782	94770782	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94770782G>A	ENST00000341584.3	-	5	1337	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	397					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCCTCGCCAGGAAAAGGCTGC	0.527000													36	38					0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7910879	7910879	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:7910879C>T	ENST00000377516.2	-	3	527	c.207G>A	c.(205-207)agG>agA	p.R69R	UTS2_ENST00000361696.5_Silent_p.R69R|UTS2_ENST00000054668.5_Silent_p.R84R			O95399	UTS2_HUMAN	urotensin 2	69					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		TACCTGCTTTCCTGAGAATAT	0.453000													65	47					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15274037	15274037	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:15274037A>C	ENST00000256953.2	-	3	414	c.78T>G	c.(76-78)ttT>ttG	p.F26L	RERG_ENST00000536465.1_Missense_Mutation_p.F26L|RERG_ENST00000538313.1_Missense_Mutation_p.F26L|RERG_ENST00000537647.1_Missense_Mutation_p.F26L|RERG_ENST00000546331.1_Intron	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	26					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTTTGGTCAGAAATCTCACTA	0.368000													8	15					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10664941	10664941	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10664941C>T	ENST00000312962.6	-	19	1835	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	KRI1_ENST00000361821.5_Missense_Mutation_p.E602K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	606										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTGTGGCTTCCGCAGGTGTC	0.612000													45	38					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950850	24950850	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24950850G>A	ENST00000289968.6	-	17	1628	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GAAAGCGGGGGATATGTGCTT	0.592000													11	2					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387442	20387442	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20387442T>A	ENST00000302451.4	-	4	739	c.491A>T	c.(490-492)cAg>cTg	p.Q164L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	164					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTCTGCCACCTGCTCGCTGCT	0.498000													10	32					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42273324	42273324	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42273324C>T	ENST00000361204.4	+	8	1644	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	493					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGTGCCTCTCCTTTAACCCC	0.587000													47	60					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101150158	101150158	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:101150158A>C	ENST00000356713.4	+	10	3059	c.2770A>C	c.(2770-2772)Acc>Ccc	p.T924P	CNNM1_ENST00000370528.3_Missense_Mutation_p.T803P|CNNM1_ENST00000446890.1_Missense_Mutation_p.T853P|CNNM1_ENST00000370534.4_Missense_Mutation_p.T580P	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	924					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCTGCTGAGAACCTTGAGTGA	0.488000													5	5					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149484645	149484645	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149484645C>T	ENST00000378016.2	+	0	3568							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGCCACACCCCTGCACGGT	0.697000													6	8					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3189422	3189422	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:3189422C>T	ENST00000355072.5	+	39	5179	c.5034C>T	c.(5032-5034)gcC>gcT	p.A1678A		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1678					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAATTCTGGCCATTTTGAGGG	0.383000													69	5					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17001319	17001319	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17001319G>A	ENST00000248076.3	+	2	1375	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	349					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGAGTTCAGGGACAAGGTGCG	0.667000													8	13					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164015	85164015	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85164015G>A	ENST00000448803.2	+	3	881	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.G47R|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.G196R|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.G197R	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	197					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TGAGGACCACGGGGAGGTGGT	0.592000													49	41					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21551807	21551807	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21551807A>C	ENST00000415912.2	-	17	2053	c.1928T>G	c.(1927-1929)gTg>gGg	p.V643G	ECE1_ENST00000436918.2_Missense_Mutation_p.V659G|ECE1_ENST00000374893.6_Missense_Mutation_p.V659G|ECE1_ENST00000357071.4_Missense_Mutation_p.V647G|ECE1_ENST00000264205.6_Missense_Mutation_p.V656G	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	659					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCGCCCGTTCACCGGCTCCCC	0.652000													15	82					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600542	31600542	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:31600542G>A	ENST00000326132.5	+	7	708	c.549G>A	c.(547-549)ctG>ctA	p.L183L	RNF185_ENST00000426256.2_Silent_p.L121L|RNF185_ENST00000266252.7_Silent_p.L127L	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	183						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TTGTGGCCCTGGTGATCATGT	0.557000													16	69					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7402840	7402840	+	Nonstop_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7402840A>C	ENST00000572844.1	+	10	1846	c.1701A>C	c.(1699-1701)taA>taC	p.*567Y	POLR2A_ENST00000322644.6_Intron			P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	0					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCTGGCTTAAGTGGGCAGTG	0.522000													4	15					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95753230	95753230	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95753230C>A	ENST00000272418.2	-	12	1373	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	389					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTCAAGGGCCCCCGGGGGGAC	0.557000													19	33					1.33834e-09	1.34466e-09	1	1	0
PRRX2	51450	broad.mit.edu	37	9	132484532	132484532	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:132484532C>T	ENST00000372469.4	+	4	890	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GCTCAGGCCCCGCAACCCCAG	0.627000													19	21					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726145	168726145	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168726145G>A	ENST00000305861.1	+	2	947	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R199Q|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	199					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCAAGCCACGAAGAAGGTAT	0.403000													6	28					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377355	125377355	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125377355C>T	ENST00000297913.2	+	1	408	c.339C>T	c.(337-339)ttC>ttT	p.F113F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGGAAAACTTCATCCTGGCTG	0.448000													60	40					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1245947	1245947	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:1245947T>A	ENST00000381312.1	-	8	2148	c.1823A>T	c.(1822-1824)cAg>cTg	p.Q608L	ADARB2_ENST00000381305.1_Missense_Mutation_p.Q10L|ADARB2_ENST00000381310.3_Missense_Mutation_p.Q117L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	608	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGCGGGCAGCTGGCCGACACC	0.687000													3	20					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129155733	129155733	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:129155733T>A	ENST00000429544.2	-	3	949	c.754A>T	c.(754-756)Aag>Tag	p.K252*	MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Nonsense_Mutation_p.K252*|MBD4_ENST00000503197.1_Nonsense_Mutation_p.K252*|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Nonsense_Mutation_p.K252*	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	252					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						GAACAGCTCTTCCTACATCCT	0.368000								Base excision repair (BER), DNA glycosylases					6	149					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19968923	19968923	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:19968923G>A	ENST00000379687.3	-	7	1726	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	CXorf23_ENST00000379682.4_Missense_Mutation_p.R565W|CXorf23_ENST00000356980.3_Missense_Mutation_p.R565W	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	565						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TTCTGTAACCGTTCTTTTCGC	0.383000													16	25					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71002483	71002483	+	Missense_Mutation	SNP	C	C	T	rs148201083		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:71002483C>T	ENST00000396396.1	+	4	905	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PGM5_ENST00000396392.1_Missense_Mutation_p.R226C|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	226					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACTGAAGATTCGCATTGACGC	0.468000													17	34					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924151	188924151	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:188924151G>A	ENST00000326866.4	+	4	598	c.190G>A	c.(190-192)Gga>Aga	p.G64R	ZFP42_ENST00000509524.1_Missense_Mutation_p.G64R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	64					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGGCTCTCGGAGGGGATGA	0.507000													11	34					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119731985	119731985	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:119731985C>T	ENST00000541757.1	+	6	683	c.303C>T	c.(301-303)gcC>gcT	p.A101A	MARCO_ENST00000327097.4_Silent_p.A179A			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	179					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGAAGGGAGCCAAGGGGGCTA	0.567000													3	18					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068317	122068317	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:122068317C>T	ENST00000454328.1	-	9	849	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	TNIP3_ENST00000509841.1_Missense_Mutation_p.E285K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E208K|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.E278K			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	208										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTTCTTCGTATATTTGC	0.368000													34	14					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10188298	10188298	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:10188298T>C	ENST00000256474.2	+	2	1281	c.441T>C	c.(439-441)atT>atC	p.I147I	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	147	Involved in binding to CCT complex.		I -> T (in pheochromocytoma).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I147fs*11(2)|p.I147fs*25(1)|p.I147fs*10(1)|p.I147_F148del(1)|p.G144fs*19(1)|p.P146fs*23(1)|p.F148fs*26(1)|p.F148fs*25(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GACAGCCTATTTTTGCCAATA	0.418000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				41	95					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119452304	119452304	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:119452304T>G	ENST00000273390.5	+	10	1372	c.1295T>G	c.(1294-1296)tTt>tGt	p.F432C		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		AAAGCTGGTTTTCTGAAGAGG	0.418000													6	153					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65147220	65147220	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:65147220T>C	ENST00000358691.5	-	18	2464	c.2298A>G	c.(2296-2298)cgA>cgG	p.R766R	HELZ_ENST00000580168.1_Silent_p.R767R	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAACCACCACTCGATGTTTAA	0.453000													10	91					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408933	82408933	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:82408933G>A	ENST00000370728.1	+	8	1323	c.678G>A	c.(676-678)acG>acA	p.T226T	LPHN2_ENST00000370715.1_Silent_p.T226T|LPHN2_ENST00000370725.1_Silent_p.T226T|LPHN2_ENST00000359929.3_Silent_p.T226T|LPHN2_ENST00000370717.2_Silent_p.T226T|LPHN2_ENST00000271029.4_Silent_p.T226T|LPHN2_ENST00000394879.1_Silent_p.T226T|LPHN2_ENST00000319517.6_Silent_p.T226T|LPHN2_ENST00000370730.1_Silent_p.T226T|LPHN2_ENST00000335786.5_Silent_p.T226T|LPHN2_ENST00000370713.1_Silent_p.T226T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Silent_p.T226T|LPHN2_ENST00000370721.1_Silent_p.T230T|LPHN2_ENST00000370727.1_Silent_p.T226T			O95490	LPHN2_HUMAN	latrophilin 2	226	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGAAAGAACGAGGAATATTG	0.388000													40	48					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907539	12907539	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12907539C>T	ENST00000317869.6	-	2	829	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCAATTTTTTCCAGGTTTTCC	0.423000													100	102					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490386	58490386	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58490386G>A	ENST00000341164.4	-	7	2282	c.1662C>T	c.(1660-1662)gcC>gcT	p.A554A	ZNF606_ENST00000536132.1_Silent_p.A464A	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTTACTAAGGGCTGAGTAGT	0.408000													48	31					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54974212	54974212	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54974212A>C	ENST00000217109.4	+	5	1187	c.835A>C	c.(835-837)Act>Cct	p.T279P	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	279					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TATGTACGTAACTGGAAGCAA	0.403000													6	113					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928585	40928585	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40928585A>C	ENST00000411995.2	+	6	1304	c.929A>C	c.(928-930)aAg>aCg	p.K310T	ZFP69B_ENST00000361584.3_Missense_Mutation_p.K208T|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		TTCAGATGTAAGGAATGTGGA	0.378000													23	43					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097549	75097549	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75097549G>C	ENST00000326665.5	-	7	885	c.667C>G	c.(667-669)Caa>Gaa	p.Q223E	C1orf173_ENST00000420661.2_Missense_Mutation_p.Q26E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	223										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTGGAAGTTGATATGAATTC	0.403000													32	35					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754399	31754399	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:31754399G>A	ENST00000405650.1	-	0	841				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AAAGCTCGCAGCCCAAGGAAA	0.463000													9	28					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687933	30687933	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30687933T>C	ENST00000394670.4	+	5	667	c.498T>C	c.(496-498)ggT>ggC	p.G166G	ZNF207_ENST00000321233.6_Silent_p.G166G|ZNF207_ENST00000342555.6_Silent_p.G169G|ZNF207_ENST00000341711.6_Silent_p.G67G|ZNF207_ENST00000577908.1_Silent_p.G166G|ZNF207_ENST00000394673.2_Silent_p.G166G	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TAATGCCAGGTGTTCCTCCTC	0.393000													4	25					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166674	180166674	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180166674G>A	ENST00000307832.2	-	1	425	c.385C>T	c.(385-387)Cca>Tca	p.P129S		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTGGAGTGGACGACAGACA	0.587000													9	6					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43775598	43775598	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:43775598A>C	ENST00000278353.4	+	3	329	c.210A>C	c.(208-210)ttA>ttC	p.L70F	HSD17B12_ENST00000395700.4_Missense_Mutation_p.L70F|HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	70					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						TGTTTCAGTTAGCAAAGCATG	0.368000													8	113					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739983	62739983	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62739983C>T	ENST00000371153.4	-	3	1171	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	265	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGTTCATCTTCCTTGTCCTCT	0.552000													8	14					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005925	74005925	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74005925C>T	ENST00000301607.3	-	22	3614	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1143K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1121	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCAGGTCTTCGATGCGAGCC	0.632000													50	1					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978557	247978557	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247978557C>T	ENST00000357627.1	-	1	474	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGGTGCCAGCTGTGTGCATC	0.473000													53	55					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389780	232389780	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:232389780C>T	ENST00000305141.4	-	3	1388	c.1255G>A	c.(1255-1257)Gcg>Acg	p.A419T		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	419					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCTTGCTGCGCCTCTGGGCCA	0.637000													33	16					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13770902G>A	ENST00000265104.4	-	56	9665	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome				17	48					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767710	143767710	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:143767710G>A	ENST00000419275.1	-	1	171	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	47	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.R47C(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CCCTTATAACGAAATCCTTTC	0.483000													8	236					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22145065	22145065	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22145065G>A	ENST00000356766.6	+	7	916	c.768G>A	c.(766-768)atG>atA	p.M256I	PIWIL2_ENST00000521356.1_Missense_Mutation_p.M256I|PIWIL2_ENST00000454009.2_Missense_Mutation_p.M256I	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	256					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCAAAAGCATGAGGTTCGGCA	0.453000											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	54					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323335	31323335	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31323335C>T	ENST00000269197.5	+	12	3523	c.3523C>T	c.(3523-3525)Ctc>Ttc	p.L1175F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTCTGCCCACCTCCGGGAGAC	0.443000													11	9					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27162912	27162912	+	Missense_Mutation	SNP	A	A	T	rs149845636		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27162912A>T	ENST00000288699.6	+	9	1119	c.961A>T	c.(961-963)Atc>Ttc	p.I321F	DPYSL5_ENST00000401478.1_Missense_Mutation_p.I321F	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	321					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCTGAACATCGTGGCATC	0.527000													51	35					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953341	70953341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:70953341C>T	ENST00000334414.6	-	18	4540	c.4496G>A	c.(4495-4497)tGg>tAg	p.W1499*	PTPRB_ENST00000451516.2_Nonsense_Mutation_p.W1191*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.W1191*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.W1281*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.W1191*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.W1411*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.W1498*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1281	Fibronectin type-III 17.				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)			GGGCCCTTTCCACGTGATGGC	0.463000													97	64					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64239264	64239264	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:64239264T>C	ENST00000262150.2	-	2	470	c.178A>G	c.(178-180)Agt>Ggt	p.S60G	CDH19_ENST00000540086.1_Missense_Mutation_p.S60G	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	60	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGTGATGACTAGTCGTATTC	0.373000													15	13					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933537	39933537	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:39933537G>A	ENST00000342274.4	-	4	1424	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y	BCOR_ENST00000397354.3_Silent_p.Y354Y|BCOR_ENST00000378455.4_Silent_p.Y354Y|BCOR_ENST00000378444.4_Silent_p.Y354Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	354					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGAACTCCGAGTAGGTGTCTG	0.632000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						19	0					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216315	27216315	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27216315G>T	ENST00000374135.4	-	1	473	c.273C>A	c.(271-273)aaC>aaA	p.N91K		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	91							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCCAGTCCAGGTTGGCTTCCA	0.687000													52	70					1.54043e-34	1.55654e-34	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157514226	157514226	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157514226G>A	ENST00000361835.3	-	5	827	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	FCRL5_ENST00000368191.3_Missense_Mutation_p.L139F|FCRL5_ENST00000356953.4_Missense_Mutation_p.L224F|FCRL5_ENST00000368190.3_Missense_Mutation_p.L224F|FCRL5_ENST00000368189.3_Missense_Mutation_p.L224F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	224	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGGAACCGGAGCGGGACATCT	0.562000													65	81					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70508746	70508746	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70508746G>A	ENST00000288078.6	+	18	2441	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	FUK_ENST00000378912.2_Missense_Mutation_p.G769S|FUK_ENST00000571514.1_Missense_Mutation_p.G228S	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	737						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGCTGTGCTGGGCCTGGCTGT	0.692000													9	1					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86077163	86077163	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:86077163T>G	ENST00000560302.1	+	4	700	c.530T>G	c.(529-531)cTt>cGt	p.L177R	AKAP13_ENST00000394518.2_Intron|AKAP13_ENST00000361243.2_Intron			Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	177					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATATTTCTACTTTTTTTTTAA	0.393000													6	9					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36357239	36357239	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:36357239G>A	ENST00000312412.4	-	9	1013	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Silent_p.S183S																kidney(1)|lung(3)	4						ATGAAGAACAGGAATTTTTTG	0.343000													4	31					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44693745	44693745	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44693745G>A	ENST00000290231.6	-	6	916	c.752C>T	c.(751-753)cCt>cTt	p.P251L		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AATAGCAAAAGGAGAACCTCC	0.517000													49	151					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917695	2917695	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2917695C>T	ENST00000306908.5	+	4	1224	c.1076C>T	c.(1075-1077)aCt>aTt	p.T359I	ZNF57_ENST00000523428.1_Missense_Mutation_p.T327I|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACGCACACTGGAGAGAAA	0.448000													29	38					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343178	69343178	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69343178G>A	ENST00000305363.4	+	8	863	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	267	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AATTGTCCATGAAAAATACAA	0.423000													66	171					0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751650	76751650	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76751650A>G	ENST00000533140.1	+	2	1193	c.1055A>G	c.(1054-1056)gAg>gGg	p.E352G	B3GNT6_ENST00000354301.5_Missense_Mutation_p.E351G|B3GNT6_ENST00000421061.1_Missense_Mutation_p.E230G			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	351					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						ATGTACCGCGAGTTGCTGCTA	0.697000													3	9					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325840	1325840	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1325840T>G	ENST00000400809.3	-	7	868	c.864_splice	c.e7+1	p.K288_splice	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Splice_Site_p.K66_splice	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	288					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCGAAGAACCTTTTTCCGAGC	0.433000													4	90					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873383	21873383	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21873383G>A	ENST00000399982.2	-	15	3356	c.3292C>T	c.(3292-3294)Cca>Tca	p.P1098S	CHD8_ENST00000557364.1_Missense_Mutation_p.P1098S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.P819S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1098					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGAGATATGGGTGGTTGCAG	0.443000													16	9					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185823136	185823136	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185823136G>A	ENST00000306376.5	-	5	436	c.190C>T	c.(190-192)Cct>Tct	p.P64S	ETV5_ENST00000434744.1_Missense_Mutation_p.P64S|ETV5_ENST00000537818.1_Missense_Mutation_p.P106S	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	64					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P64S(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TCATCATCAGGAACTTGTGCT	0.328000			T	"""TMPRSS2, SCL45A3"""	Prostate								99	50					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100406351	100406351	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100406351A>G	ENST00000262233.6	+	22	2489	c.2350A>G	c.(2350-2352)Agc>Ggc	p.S784G	EML1_ENST00000334192.4_Missense_Mutation_p.S803G|EML1_ENST00000327921.9_Missense_Mutation_p.S772G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	784						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CGGCGGGCACAGCAGCCATGT	0.532000													10	47					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428479	56428479	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:56428479C>T	ENST00000262032.5	+	12	1489	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.A329A|IKZF4_ENST00000547167.1_Silent_p.A374A|IKZF4_ENST00000431367.2_Silent_p.A272A			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	374					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCCCTGGCCTTTGTGGGTG	0.562000													27	33					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408211	215408211	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:215408211A>C	ENST00000444842.2	+	7	1154	c.1004A>C	c.(1003-1005)aAc>aCc	p.N335T	KCNK2_ENST00000391894.2_Missense_Mutation_p.N320T|KCNK2_ENST00000391895.2_Missense_Mutation_p.N331T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	335							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGGACAGCCAACGTCACAGCC	0.493000													4	103					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398044	10398044	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10398044G>A	ENST00000393717.2	+	1	365	c.356G>A	c.(355-357)gGa>gAa	p.G119E	ICAM4_ENST00000340992.4_Missense_Mutation_p.G119E|ICAM4_ENST00000380770.3_Missense_Mutation_p.G119E|CTD-2369P2.8_ENST00000589379.1_RNA	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	119	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACCTGCGCAGGAAAAACACGC	0.677000													10	8					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194157933	194157933	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:194157933A>G	ENST00000439040.1	-	20	2802	c.2011T>C	c.(2011-2013)Ttt>Ctt	p.F671L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.F671L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	671					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACGTTTTGAAAATCGACAGGA	0.343000													15	124					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135426616	135426616	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:135426616A>G	ENST00000394143.1	+	6	1042	c.751A>G	c.(751-753)Act>Gct	p.T251A	GPR112_ENST00000370652.1_Missense_Mutation_p.T251A|GPR112_ENST00000394141.1_Missense_Mutation_p.T46A|GPR112_ENST00000287534.4_Missense_Mutation_p.T188A|GPR112_ENST00000412101.1_Missense_Mutation_p.T46A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	251					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGATATGACCACTCCATCCCA	0.323000													8	18					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355697	79355697	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79355697G>A	ENST00000350881.2	+	7	1146	c.956G>A	c.(955-957)gGa>gAa	p.G319E	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G228E	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	319	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGCTACACAGGAAACGGGATC	0.527000													33	50					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5042652	5042652	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5042652C>T	ENST00000455190.1	-	4	395	c.369_splice	c.e4-1	p.E124_splice	AKR1C2_ENST00000421196.3_Intron|AKR1C2_ENST00000407674.1_Intron|AKR1C2_ENST00000380753.4_Intron	NM_001135241.2	NP_001128713.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	0					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CCTATGTCCTCCTAAGAAAAA	0.348000													11	11					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962177	151962177	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151962177G>A	ENST00000355193.2	-	8	1348	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P377L					lysine (K)-specific methyltransferase 2C																		ACGTTTTAATGGAGTAACCGC	0.453000													36	392					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867830	45867830	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45867830T>G	ENST00000311275.7	-	15	2530	c.2277A>C	c.(2275-2277)gaA>gaC	p.E759D	ZMYND8_ENST00000355972.4_Missense_Mutation_p.E759D|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E707D|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E754D|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E779D|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E779D|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E696D|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E759D|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E786D|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E754D|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E779D|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E759D			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	759							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCACCGGTGTTTCCGGGGGAG	0.602000													46	158					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69957185	69957185	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:69957185C>T	ENST00000358913.5	+	16	3723	c.3235C>T	c.(3235-3237)Cct>Tct	p.P1079S	MYPN_ENST00000540630.1_Missense_Mutation_p.P1079S|MYPN_ENST00000354393.2_Missense_Mutation_p.P804S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1079	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTGCAGGCTCCTGGGGATAT	0.493000													71	2					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33530422	33530422	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33530422G>A	ENST00000216951.2	-	5	458	c.360C>T	c.(358-360)ttC>ttT	p.F120F	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_5'UTR	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	120					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCAGGCCCAGGAACACAGTCT	0.552000													12	35					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903938	21903938	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21903938G>A	ENST00000374840.3	+	12	1622	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	ALPL_ENST00000374829.1_Missense_Mutation_p.D104N|ALPL_ENST00000539907.1_Missense_Mutation_p.D381N|ALPL_ENST00000374830.1_Missense_Mutation_p.D104N|ALPL_ENST00000374832.1_Missense_Mutation_p.D458N|ALPL_ENST00000540617.1_Missense_Mutation_p.D403N|ALPL_ENST00000425315.2_Missense_Mutation_p.D458N	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	458					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CGGCGGGGAGGACGTGGCCGT	0.667000													29	62					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22748959	22748959	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:22748959A>C	ENST00000511446.1	+	0	330				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTTGTTAAAAAATGGGGTTA	0.368000													10	70					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131833595	131833595	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131833595C>T	ENST00000286355.5	-	13	4839	c.2747G>A	c.(2746-2748)gGa>gAa	p.G916E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G785E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	916					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TACCTGCTGTCCATGGTAGAA	0.453000										HNSCC(32;0.087)			20	18					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92612806	92612806	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92612806C>T	ENST00000342818.3	+	8	1236	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	334						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AGTGGAAAGTCTTTTTGCTGA	0.343000													16	70					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18534797	18534797	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:18534797T>A	ENST00000399799.1	-	31	4740	c.3800A>T	c.(3799-3801)aAg>aTg	p.K1267M		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1267	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTGTGGCACTTAACATGGCA	0.398000													20	52					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480513	73480513	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73480513T>C	ENST00000523207.1	+	2	1132	c.544T>C	c.(544-546)Ttg>Ctg	p.L182L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	182					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTGTGGGACTTGCTGGAGAA	0.468000													65	69					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104442916	104442916	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:104442916A>C	ENST00000297579.5	+	6	1434	c.1158_splice	c.e6+1	p.K386_splice	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	234					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCTTTGAAAAAGGTGAGTTTC	0.333000													12	85					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155235758	155235758	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:155235758C>T	ENST00000424344.3	+	8	1096	c.729C>T	c.(727-729)atC>atT	p.I243I	IL9R_ENST00000244174.5_Silent_p.I264I|IL9R_ENST00000540897.1_Silent_p.I289I|IL9R_ENST00000369423.2_Silent_p.I299I			Q01113	IL9R_HUMAN	interleukin 9 receptor	264	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCCTCTGATCCCACCCTGGG	0.637000													24	33					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219487520	219487520	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219487520C>T	ENST00000450993.2	+	6	1030	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	PLCD4_ENST00000417849.1_Missense_Mutation_p.L231F|PLCD4_ENST00000432688.1_Missense_Mutation_p.L231F	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	231	EF-hand 3.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTTGGATTTCCTCCAAGAGGA	0.468000													33	61					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888439	183888439	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183888439C>T	ENST00000313143.3	+	15	2295	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	DVL3_ENST00000431765.1_Missense_Mutation_p.P666S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	683				PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGAGCCCCTCCGGGCCGCGA	0.692000													5	49					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152484119	152484119	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152484119T>C	ENST00000397345.3	-	69	10263	c.10061A>G	c.(10060-10062)aAg>aGg	p.K3354R	NEB_ENST00000603639.1_Missense_Mutation_p.K3354R|NEB_ENST00000172853.10_Missense_Mutation_p.K3111R|NEB_ENST00000604864.1_Missense_Mutation_p.K3354R|NEB_ENST00000427231.2_Missense_Mutation_p.K3354R|NEB_ENST00000409198.1_Missense_Mutation_p.K3111R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3354					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGTAGTTCTTGTAGTCCAC	0.527000													78	206					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481643	99481643	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:99481643G>A	ENST00000376460.1	-	43	4894	c.4814C>T	c.(4813-4815)tCc>tTc	p.S1605F	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.S1606F	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1606	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGGCATAGGATTTGGCCAG	0.577000													8	12					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220193455	220193455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220193455C>T	ENST00000366923.3	-	10	1493	c.1224G>A	c.(1222-1224)tgG>tgA	p.W408*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	408	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTCAATAATCCAGTAAAACT	0.393000													41	43					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158091610	158091610	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:158091610T>G	ENST00000512619.1	+	3	281	c.149T>G	c.(148-150)tTt>tGt	p.F50C	GLRB_ENST00000509282.1_Silent_p.V408V|GLRB_ENST00000264428.4_Silent_p.V408V|GLRB_ENST00000541722.1_3'UTR			P48167	GLRB_HUMAN	glycine receptor, beta	0					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.V408V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GCAAAAAAGTTTGTACTTCTA	0.328000													4	17					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918415	66918415	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:66918415A>C	ENST00000311765.2	+	2	562	c.228A>C	c.(226-228)caA>caC	p.Q76H	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	76					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTCACTTGCAACTCAGCCCTG	0.498000													22	41					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802674	185802674	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185802674G>A	ENST00000302277.6	+	4	3145	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	851						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTAATAAGTGAAGACAAAAA	0.348000													14	38					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914294	31914294	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31914294C>T	ENST00000556679.1	+	14	1770	c.1715C>T	c.(1714-1716)cCt>cTt	p.P572L	CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.P572L|CFB_ENST00000425368.2_Missense_Mutation_p.P70L			P00751	CFAB_HUMAN	complement factor B	70	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.P70R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACCCGTACCCTGTGCAGACA	0.572000													27	37					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969189	93969189	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:93969189G>A	ENST00000369303.4	-	10	1991	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	603						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGGTGCCTGGAAATTTAACT	0.423000													55	5					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723880	58723880	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58723880C>T	ENST00000326804.4	+	9	1789	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	ZNF274_ENST00000424679.2_Missense_Mutation_p.P339S|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.P412S	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	445					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCACAAAATTCCTCCTAGAAA	0.418000													96	58					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169185	49169185	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49169185G>A	ENST00000307885.4	-	10	2575	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	ADCY6_ENST00000357869.3_Silent_p.F627F|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Silent_p.F627F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	627					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CACGGCTCAGGAACTCATCCA	0.582000													91	48					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792395	143792395	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143792395G>A	ENST00000408949.2	+	1	255	c.195G>A	c.(193-195)ctG>ctA	p.L65L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCACACCTGGCCATTGTGG	0.463000													25	50					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188002	152188002	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152188002T>G	ENST00000368801.2	-	3	6178	c.6103A>C	c.(6103-6105)Agc>Cgc	p.S2035R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2035					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTAGCTCCATGT	0.567000													31	682					0	0	1	0	0
POLDIP2	26073	broad.mit.edu	37	17	26680769	26680769	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26680769A>T	ENST00000540200.1	-	5	386	c.387T>A	c.(385-387)acT>acA	p.T129T	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	130						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGTAAGTGTGAGTTTTGCCTT	0.532000													9	223					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508680	106508680	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:106508680A>C	ENST00000359195.3	+	2	984	c.674A>C	c.(673-675)cAc>cCc	p.H225P	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H225P|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H225P	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	225					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATCGTCATTCACCGCAGCACC	0.577000													19	112					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603295	95603295	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:95603295A>G	ENST00000343958.4	-	2	1988	c.1765T>C	c.(1765-1767)Tcg>Ccg	p.S589P	FGD6_ENST00000549499.1_Missense_Mutation_p.S589P|FGD6_ENST00000546711.1_Missense_Mutation_p.S589P	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	589					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTGTTTGACGATACGGTGACA	0.448000													13	55					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31437407	31437407	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31437407G>A	ENST00000389202.2	+	30	3493	c.3444G>A	c.(3442-3444)ggG>ggA	p.G1148G		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1148					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATTCAGTGGGGACGATTTCA	0.463000													4	18					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1880930	1880930	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:1880930C>T	ENST00000505790.1	-	4	772	c.316G>A	c.(316-318)Gat>Aat	p.D106N	IRX4_ENST00000231357.2_Missense_Mutation_p.D106N|IRX4_ENST00000513692.1_Missense_Mutation_p.D106N|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	106					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CCCGAACCATCCTTGGAATCA	0.632000													77	74					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56390212	56390212	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56390212C>T	ENST00000301295.6	+	9	3171	c.2749C>T	c.(2749-2751)Ctc>Ttc	p.L917F	NLRP4_ENST00000346986.5_Missense_Mutation_p.L861F|NLRP4_ENST00000587891.1_Missense_Mutation_p.L842F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	917							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGCGTCTGTTCTCACCTGCAG	0.547000													37	31					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396416	54396416	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:54396416G>A	ENST00000303450.4	+	2	811	c.741G>A	c.(739-741)atG>atA	p.M247I	HOXC9_ENST00000508190.1_Missense_Mutation_p.M247I|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	247					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GGATGAAGATGAAAAAGATGA	0.473000													46	3					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31613308	31613308	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:31613308T>G	ENST00000389082.5	-	4	1176	c.912A>C	c.(910-912)caA>caC	p.Q304H	DENND5B_ENST00000536562.1_Missense_Mutation_p.Q339H|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000354285.4_Missense_Mutation_p.Q326H|DENND5B_ENST00000306833.6_Missense_Mutation_p.Q339H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	304	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCATCAGGCGTTGATAATCTG	0.393000													7	43					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055399	75055399	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75055399C>T	ENST00000326665.5	-	12	2310	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E501K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	698	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTATCCTTTTCCTTTTCTTCT	0.458000													102	119					0	0	1	0	0
TSPY2	64591	broad.mit.edu	37	Y	6115623	6115623	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:6115623T>C	ENST00000320701.4	+	3	631	c.585T>C	c.(583-585)cgT>cgC	p.R195R	TSPY2_ENST00000383042.1_Silent_p.R195R	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	195					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						AGAAGCATCGTGTTCATCTCT	0.438000													51	147					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29628326	29628326	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29628326G>A	ENST00000334018.6	+	8	946	c.758G>A	c.(757-759)gGg>gAg	p.G253E	EMID1_ENST00000404755.3_Missense_Mutation_p.G253E|EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Missense_Mutation_p.G253E	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	251	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGGCCACCAGGGCCTCCTGGC	0.721000													24	17					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950202	118950202	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:118950202G>A	ENST00000328252.3	+	2	1554	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	395	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTGGGAGCTGGACGTGCTGG	0.577000													13	39					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154030625	154030625	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154030625T>G	ENST00000368559.3	-	22	3118	c.3047A>C	c.(3046-3048)aAt>aCt	p.N1016T	NUP210L_ENST00000271854.3_Missense_Mutation_p.N1016T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1016						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAAGTATTTATTTTGGAATGG	0.393000													9	113					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134504019	134504019	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134504019G>A	ENST00000372195.1	-	8	1177	c.934C>T	c.(934-936)Ccg>Tcg	p.P312S	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.P295S|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P313S|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	295					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTAGGGGACGGCGCCGACTGT	0.582000													13	39					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230312172	230312172	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:230312172C>T	ENST00000341772.4	-	8	1480	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	449	EGF-like 6.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAAGTGTACCCCGTCCACATA	0.572000													9	22					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679313	37679313	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:37679313G>A	ENST00000379800.3	-	1	490	c.81C>T	c.(79-81)tcC>tcT	p.S27S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	27	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.S27F(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CGTCTCCAAAGGAGCCAGACC	0.537000													47	71					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135628535	135628535	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:135628535G>A	ENST00000356140.5	+	7	717	c.580_splice	c.e7-1	p.G194_splice	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Splice_Site_p.G136_splice|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000283054.4_Splice_Site_p.G136_splice	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	194					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCTCTTTCAGGAATGCCAGCA	0.453000													10	17					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542374	10542374	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10542374C>T	ENST00000583535.1	-	25	3322	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1079K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1079					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						TTGAGCCTTTCGTCCAGCTGT	0.423000													65	3					0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149760122	149760122	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:149760122G>A	ENST00000369168.4	+	4	562	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	170	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				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)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCATTGCTCAGGCATGGGAAA	0.428000													44	41					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12693674	12693674	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12693674T>G	ENST00000311437.6	-	4	462	c.340A>C	c.(340-342)Aga>Cga	p.R114R		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	114	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTAGATTTCTTCCCTGGTTT	0.323000													20	87					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26886107	26886107	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:26886107A>G	ENST00000231021.4	-	10	1770	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	533	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTCGGATTGAGAGTAAATTC	0.313000													36	125					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705998	41705998	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:41705998A>G	ENST00000379485.1	-	1	884	c.650T>C	c.(649-651)cTg>cCg	p.L217P	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L151P	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	217							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGCCAGGGTCAGATCTGCTAG	0.582000													7	66					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461453	11461453	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11461453G>A	ENST00000279575.1	-	3	497	c.464C>T	c.(463-465)cCc>cTc	p.P155L	PRB4_ENST00000535904.1_Missense_Mutation_p.P155L|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	218	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATGAGGTGGGGGACCTTGGGA	0.607000										HNSCC(22;0.051)			189	204					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77542460	77542460	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:77542460C>T	ENST00000461745.1	+	5	1633	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R245C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R261C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	245	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R245C(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTAGAATTTCGTTGTCAAGT	0.418000													17	98					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29649154	29649154	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:29649154G>A	ENST00000318184.5	-	3	240	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	81	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTAACAACCCGATCTTCTTGA	0.473000													8	11					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411575	126411575	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126411575A>C	ENST00000394329.3	+	17	13611	c.13598A>C	c.(13597-13599)aAg>aCg	p.K4533T	FAT4_ENST00000335110.5_Missense_Mutation_p.K2774T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4533					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGGGGAAGAAGGCCAAAAAT	0.537000													11	26					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675712	73675712	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:73675712T>C	ENST00000264448.6	+	8	2166	c.2055T>C	c.(2053-2055)ggT>ggC	p.G685G	ALMS1_ENST00000409009.1_Silent_p.G643G|ALMS1_ENST00000377715.1_Silent_p.G685G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	685	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCAGATGGTCATCTAACTG	0.507000													30	63					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87568537	87568537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87568537C>T	ENST00000521271.1	+	16	1624	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q488*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	488	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGATATTGTCCAGTTTGTGCC	0.512000													23	27					0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89323033	89323033	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89323033G>A	ENST00000370500.5	-	6	791	c.673C>T	c.(673-675)Cct>Tct	p.P225S	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	225					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ACTTGTTTAGGAAGACAAAGG	0.473000													10	46					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17065576	17065576	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:17065576T>G	ENST00000357277.3	+	6	1049	c.878T>G	c.(877-879)cTt>cGt	p.L293R	REPS2_ENST00000380064.4_Missense_Mutation_p.L153R|REPS2_ENST00000303843.7_Missense_Mutation_p.L292R	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	293	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TTCCGATCCCTTCAGCCAGAC	0.493000													39	52					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65905702	65905702	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:65905702A>G	ENST00000321892.4	+	12	3256	c.3195A>G	c.(3193-3195)aaA>aaG	p.K1065K	BPTF_ENST00000424123.3_Silent_p.K926K|BPTF_ENST00000335221.5_Silent_p.K1065K|BPTF_ENST00000306378.6_Silent_p.K939K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1065					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)			TTTTAGCCAAAAATAATATGG	0.284000													3	13					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143078777	143078777	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143078777C>T	ENST00000322764.5	+	2	458	c.113C>T	c.(112-114)cCc>cTc	p.P38L	ZYX_ENST00000449423.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	38					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAAGTGAATCCCTTCCGGCCC	0.706000													8	18					0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40847108	40847108	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:40847108C>T	ENST00000333634.4	+	3	546	c.468C>T	c.(466-468)tcC>tcT	p.S156S	SH3BGR_ENST00000458295.1_Silent_p.S45S|SH3BGR_ENST00000380631.1_Silent_p.S45S|SH3BGR_ENST00000380634.1_Silent_p.S45S|SH3BGR_ENST00000380637.3_Silent_p.S45S	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	156					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TTATTTATTCCTTCCTTGGTT	0.373000													17	22					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119341252	119341252	+	Missense_Mutation	SNP	G	G	A	rs141308759		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:119341252G>A	ENST00000338891.7	-	4	1666	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	FAM184A_ENST00000522284.1_Missense_Mutation_p.S288L|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.S288L|FAM184A_ENST00000368475.4_Missense_Mutation_p.S288L|FAM184A_ENST00000521531.1_Missense_Mutation_p.S408L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	408								p.S408L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTGACTCTCGATTTTTCTGA	0.373000													23	3					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726173	12726173	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12726173T>C	ENST00000376221.1	+	4	651	c.651T>C	c.(649-651)gcT>gcC	p.A217A		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	217						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGATCCGGGCTCAGGTTCTGA	0.552000													22	125					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315611	12315611	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:12315611C>T	ENST00000256186.2	+	3	924	c.633C>T	c.(631-633)tcC>tcT	p.S211S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	211					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCGAATTTCCCAGAAAAGTG	0.552000													38	60					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721273	66721273	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:66721273G>A	ENST00000360242.5	+	8	1558	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D481N	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	481										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAGCTTGATGATTCCCTGAA	0.368000													32	3					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192053152	192053152	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:192053152A>C	ENST00000454309.2	-	3	1237	c.412T>G	c.(412-414)Tca>Gca	p.S138A	FGF12_ENST00000264730.3_Missense_Mutation_p.S76A|FGF12_ENST00000430714.1_Missense_Mutation_p.S39A|FGF12_ENST00000450716.1_Missense_Mutation_p.S76A|FGF12_ENST00000445105.1_Missense_Mutation_p.S76A	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	138					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTACTTACTGAACTGTAGAGA	0.443000													14	88					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457771	5457771	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:5457771C>T	ENST00000296564.7	+	12	1240	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	340	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTTCAAACTTCCCCCTCCTCT	0.463000													114	226					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169232189	169232189	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:169232189C>T	ENST00000393743.3	-	3	325	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	12							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGGGACATTTCCTGTGAAAAT	0.308000													3	4					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049357	70049357	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70049357C>T	ENST00000370598.1	+	26	4241	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	BAI3_ENST00000238918.8_Silent_p.G346G|BAI3_ENST00000546190.1_Silent_p.G104G	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1140					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATTGCAAGGCTTTGTTATAG	0.423000													71	2					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851292	234851292	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234851292C>T	ENST00000324695.4	+	6	639	c.599C>T	c.(598-600)aCc>aTc	p.T200I	TRPM8_ENST00000355722.4_Missense_Mutation_p.T150I|TRPM8_ENST00000409625.1_Missense_Mutation_p.T123I|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	200						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGAGATAACACCATCAGCAGG	0.512000													66	40					0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9798868	9798868	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9798868A>G	ENST00000302003.7	+	7	1432	c.1089A>G	c.(1087-1089)gcA>gcG	p.A363A	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000344629.7_3'UTR	NM_002542.5|NM_016820.3	NP_002533.1|NP_058213.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TTCCCCAAGCACCTTCCCCTC	0.602000								Base excision repair (BER), DNA glycosylases					12	41					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77244361	77244361	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77244361C>T	ENST00000167106.4	+	6	1605	c.972C>T	c.(970-972)tcC>tcT	p.S324S	VASH1_ENST00000554743.1_5'UTR|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	324	Involved in heparin-binding and antiangiogenic activity.				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ATGTTTCTTCCCCGCAGCGGG	0.612000													4	4					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20618045	20618045	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20618045G>A	ENST00000202677.6	-	8	909	c.767C>T	c.(766-768)tCa>tTa	p.S256L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	256					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						CTTAGTAAATGATGGAAATAA	0.353000													4	5					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50598421	50598421	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:50598421G>A	ENST00000341247.4	-	6	927	c.778C>T	c.(778-780)Cca>Tca	p.P260S	LIMA1_ENST00000552909.1_Missense_Mutation_p.P100S|LIMA1_ENST00000552823.1_Missense_Mutation_p.P100S|LIMA1_ENST00000394943.3_Missense_Mutation_p.P260S|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552783.1_Missense_Mutation_p.P100S	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	260					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGAGGCGTGGAAGTTCCAGA	0.413000													40	5					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46400029	46400029	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46400029C>T	ENST00000454345.1	+	28	3086	c.2961C>T	c.(2959-2961)gcC>gcT	p.A987A	DGKZ_ENST00000421244.2_Silent_p.A799A|DGKZ_ENST00000395574.3_Silent_p.A765A|DGKZ_ENST00000543978.1_Silent_p.A151A|DGKZ_ENST00000532868.2_Silent_p.A803A|DGKZ_ENST00000527911.1_Silent_p.A799A|DGKZ_ENST00000528615.1_Silent_p.A577A|DGKZ_ENST00000456247.2_Silent_p.A798A|DGKZ_ENST00000343674.6_Silent_p.A815A|DGKZ_ENST00000318201.8_Silent_p.A776A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	987					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTGAGGCTGCCAAGAGGAACG	0.617000													19	40					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145507711	145507711	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145507711C>T	ENST00000330165.7	+	1	114	c.45C>T	c.(43-45)ttC>ttT	p.F15F	RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RBM8A_ENST00000369307.3_Silent_p.F15F|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000595494.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	15					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGAAGATTTCGCCATGGATG	0.547000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181021441	181021441	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181021441T>C	ENST00000367580.5	+	4	680	c.675T>C	c.(673-675)caT>caC	p.H225H	MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.H180H|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GCAAAGCTCATGGCTTTTACC	0.423000													10	37					0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46620619	46620619	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46620619G>A	ENST00000296145.5	+	2	803	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.E8K	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	24					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TAAAGTCTTTGAACTGGGATT	0.378000													40	50					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20774242	20774242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:20774242G>A	ENST00000359062.3	+	5	1477	c.1437G>A	c.(1435-1437)tgG>tgA	p.W479*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	479					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGATTCTTGGAATAATCCAG	0.383000													24	27					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2412373	2412373	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2412373C>T	ENST00000360876.4	+	12	1809	c.1753C>T	c.(1753-1755)Ccg>Tcg	p.P585S	EIF3B_ENST00000397011.2_Missense_Mutation_p.P585S	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	585					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CGGAGAGGCTCCGCGGATATC	0.468000													28	36					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37167299	37167299	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37167299A>C	ENST00000274258.7	-	35	7477	c.3890T>G	c.(3889-3891)cTt>cGt	p.L1297R	C5orf42_ENST00000508244.1_Missense_Mutation_p.L2417R|C5orf42_ENST00000425232.2_Missense_Mutation_p.L2417R			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2417										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGTGGGATAAGTTGTGTTTT	0.318000													8	20					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362958	128362958	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:128362958G>A	ENST00000262462.4	+	7	2398	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G463E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G463E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	463					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTAATACTGGAGACTTAATA	0.388000													32	23					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2823039	2823039	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2823039T>C	ENST00000317243.5	+	2	253	c.53_splice	c.e2-1	p.S19_splice	ZNF554_ENST00000591265.1_Splice_Site_p.S19_splice	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCACAGCTCTGCCTGCCC	0.602000													6	72					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32886658	32886658	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32886658T>G	ENST00000452533.2	+	13	1620	c.1456T>G	c.(1456-1458)Tta>Gta	p.L486V	DNM1L_ENST00000549701.1_Missense_Mutation_p.L486V|DNM1L_ENST00000414834.2_Missense_Mutation_p.L283V|DNM1L_ENST00000381000.4_Missense_Mutation_p.L499V|DNM1L_ENST00000358214.5_Missense_Mutation_p.L499V|DNM1L_ENST00000266481.6_Missense_Mutation_p.L486V|DNM1L_ENST00000553257.1_Missense_Mutation_p.L499V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.L486V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	486	Interaction with GSK3B.|Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGTCCATAACTTAGTGGCAAT	0.289000													5	212					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17833866	17833866	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:17833866G>A	ENST00000428135.3	-	26	2875	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	SNX13_ENST00000409389.1_3'UTR|SNX13_ENST00000496855.1_5'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	904					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCAAAAACACGAAGAATACCT	0.363000													7	15					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068652	5068652	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5068652G>A	ENST00000380370.1	+	1	897	c.897G>A	c.(895-897)caG>caA	p.Q299Q		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q299H(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACCAAACAGATTCGAGAAC	0.378000													31	27					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704353	68704353	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68704353C>T	ENST00000255078.3	+	13	2516	c.2405C>T	c.(2404-2406)cCa>cTa	p.P802L		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	802	Gln/Pro-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCGGTGGCCCAGCCCCTCTC	0.692000													11	12					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7269834	7269834	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7269834G>A	ENST00000361972.4	-	10	1276	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P396S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	396					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AAGCAGAAGGGAGGGGCTTCC	0.418000													41	38					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929598	105929598	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:105929598A>C	ENST00000526793.1	-	2	386	c.227T>G	c.(226-228)tTt>tGt	p.F76C	KBTBD3_ENST00000531482.2_Missense_Mutation_p.F76C|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.F76C	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	72	BTB.									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)		GTACCTGAAAAAGTCACTGCA	0.323000													8	7					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741411	156741411	+	Silent	SNP	C	C	T	rs139943836	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156741411C>T	ENST00000347377.6	+	12	1601	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	CYFIP2_ENST00000521420.1_Silent_p.F364F|CYFIP2_ENST00000541131.1_Silent_p.F315F|CYFIP2_ENST00000377576.3_Silent_p.F390F|CYFIP2_ENST00000522463.1_Silent_p.F194F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.F390F|CYFIP2_ENST00000435847.2_Silent_p.F64F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	390					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGAGCTCTTCGACCTAGCCC	0.597000													24	25					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361255	105361255	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105361255A>C	ENST00000297581.2	+	2	524	c.475A>C	c.(475-477)Agt>Cgt	p.S159R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S159R	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	159					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CACTCCACTAAGTGTATTTGA	0.443000													26	93					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24475399	24475399	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:24475399T>G	ENST00000230036.1	-	5	501	c.391A>C	c.(391-393)Agc>Cgc	p.S131R	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	131						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTATGCCAGCTGACATCTGCC	0.463000													13	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458155	179458155	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179458155C>T	ENST00000589042.1	-	299	59004	c.58780G>A	c.(58780-58782)Gac>Aac	p.D19594N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10721N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10529N|TTN_ENST00000359218.5_Missense_Mutation_p.D10654N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17953N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17026N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17953	Ig-like 109.						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)			AATGCAGAGTCTTTGGTAACT	0.378000													16	30					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10473273	10473273	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10473273C>T	ENST00000538557.1	+	8	1014	c.770C>T	c.(769-771)tCc>tTc	p.S257F	PGD_ENST00000541529.1_Missense_Mutation_p.S248F|PGD_ENST00000270776.8_Missense_Mutation_p.S270F			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	270					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		ACCGCCATCTCCGCCCTGGAA	0.542000													41	44					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	G	A	rs142743963	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4869859G>A	ENST00000322101.2	-	1	655	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000													56	81					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670659	25670659	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25670659A>T	ENST00000281589.3	+	1	360	c.323A>T	c.(322-324)aAg>aTg	p.K108M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	108	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AATCTGGATAAGTCCATTAAT	0.398000													16	58					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313566	233313566	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:233313566C>T	ENST00000258229.8	-	17	3489	c.3255G>A	c.(3253-3255)aaG>aaA	p.K1085K	PCNXL2_ENST00000488780.2_Silent_p.K218K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1085						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTCATCTTCTTGGGGAGAG	0.448000													45	2					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70476234	70476234	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:70476234G>A	ENST00000260128.4	+	5	741	c.24G>A	c.(22-24)ctG>ctA	p.L8L	SULF1_ENST00000402687.4_Silent_p.L8L|SULF1_ENST00000419716.3_Silent_p.L8L|SULF1_ENST00000458141.2_Silent_p.L8L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	8					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCTGTGCTCTGGTTTTGGCTG	0.478000													35	54					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18778631	18778631	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18778631T>G	ENST00000300976.4	+	3	514	c.424T>G	c.(424-426)Ttc>Gtc	p.F142V	KLHL26_ENST00000599006.1_Intron|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	142										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGCGGCCGTGTTCTTGCAGAT	0.657000													9	73					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967176	57967176	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57967176G>A	ENST00000321039.3	-	1	678	c.679C>T	c.(679-681)Cct>Tct	p.P227S	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	227					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATAAAATCAGGGGAAAAATAT	0.403000													29	78					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950496	38950496	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38950496C>T	ENST00000450244.1	-	9	1489	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E431K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E431K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E431K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	431					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACCTCCTTTTCCTCCTTTAAC	0.532000													37	76					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390825	100390825	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:100390825C>T	ENST00000281806.2	-	4	901	c.587_splice	c.e4+1	p.W196_splice	MCHR2_ENST00000445970.1_Splice_Site_p.W196_splice|MCHR2_ENST00000369212.1_Splice_Site_p.W196_splice	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	196						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACAACTTACCAGAGTACATC	0.408000													28	21					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351750	117351750	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117351750A>G	ENST00000160373.3	-	23	4924	c.4833T>C	c.(4831-4833)tcT>tcC	p.S1611S	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1611										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGGAAGAAAAGATTTAACTC	0.418000													6	84					0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15677154	15677154	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:15677154T>C	ENST00000380342.3	-	3	443	c.188A>G	c.(187-189)aAc>aGc	p.N63S		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	63					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity	p.N63S(1)		endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TGCTTCTCTGTTGGGAACTTT	0.338000													17	2					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112606	248112606	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248112606C>T	ENST00000357191.3	+	1	447	c.447C>T	c.(445-447)atC>atT	p.I149I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGTCTTGGATCATAGGCTCGA	0.443000													67	88					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31318021	31318021	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31318021G>A	ENST00000265071.2	+	11	2137	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	CDH6_ENST00000514738.1_Silent_p.V569V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	624					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTGCATCGTGATCCTACTAG	0.567000													111	30					0	0	1	0	0
C1ORF220	400798	broad.mit.edu	37	1	178514922	178514922	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:178514922C>T	ENST00000367636.4	+	2	646	c.308C>T	c.(307-309)tCc>tTc	p.S103F	C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR																							AAATCTGTGTCCTCACCTTCT	0.438000													18	27					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70494042	70494042	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70494042G>A	ENST00000310961.5	+	19	2302	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	LRRC7_ENST00000035383.5_Silent_p.E623E|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	623						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCAAAGGAGATTACAGTGG	0.383000													12	21					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116288791	116288791	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:116288791C>T	ENST00000606080.1	-	4	1168	c.722G>A	c.(721-723)gGa>gAa	p.G241E	FRK_ENST00000538210.1_Missense_Mutation_p.G99E	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	241	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CTGACCAGATCCCAATCGCTT	0.448000													64	2					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038872	75038872	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75038872C>T	ENST00000326665.5	-	14	2740	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	841	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCTGCTGCTCCCTCTGCCCC	0.552000													60	83					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778380	31778380	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31778380A>G	ENST00000375654.4	-	2	1559	c.1370T>C	c.(1369-1371)cTg>cCg	p.L457P	HSPA1L_ENST00000417199.3_Missense_Mutation_p.L457P	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	457					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCGCCCCAGCAGGTTGTTGTC	0.537000													7	118					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20518362	20518362	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:20518362T>G	ENST00000361078.2	-	2	118	c.96A>C	c.(94-96)aaA>aaC	p.K32N	PUM2_ENST00000319801.5_Missense_Mutation_p.K32N|PUM2_ENST00000338086.5_Missense_Mutation_p.K32N|PUM2_ENST00000403432.1_Missense_Mutation_p.K32N|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000536417.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	32	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGTCCATCTTTTGTTGAAT	0.333000													15	39					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924072	45924072	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45924072C>T	ENST00000395629.2	+	5	1054	c.724C>T	c.(724-726)Cct>Tct	p.P242S	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.P252S			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	252	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGGTGGTCCCCCTGCTGCCCC	0.701000													9	10					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20189750	20189750	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:20189750C>T	ENST00000263754.4	+	16	2627	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	724					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGCCCAGAGACCCTGACCAGC	0.428000													17	22					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465934	160465934	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160465934T>G	ENST00000368059.3	-	2	368	c.299A>C	c.(298-300)aAg>aCg	p.K100T	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.K100T	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	100						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTCTTCCATCTTCAGGTTGCT	0.468000													36	117					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396065	77396065	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:77396065G>A	ENST00000282849.5	-	7	1571	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	385	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAGATGGCATGATCATGTCTC	0.408000													18	1					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541767	55541767	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55541767C>T	ENST00000361760.1	+	1	854	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTGGCGATTCCAATGCTGAAC	0.363000													23	22					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197066071	197066071	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:197066071G>A	ENST00000260983.2	-	29	4831	c.4649C>T	c.(4648-4650)cCa>cTa	p.P1550L	HECW2_ENST00000409111.1_Missense_Mutation_p.P1194L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1550	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGAAAAGGATGGGTAGGGAGG	0.438000													24	50					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941185	52941185	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52941185C>T	ENST00000332323.6	+	4	572	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	ZNF534_ENST00000433050.1_Missense_Mutation_p.H158Y|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TGTCAAAACCCATATTTTTAA	0.318000													16	60					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798094	21798094	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21798094G>A	ENST00000318220.6	+	8	1359	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	NBPF3_ENST00000454000.2_Missense_Mutation_p.R90Q|NBPF3_ENST00000342104.5_Missense_Mutation_p.R160Q|NBPF3_ENST00000318249.5_Missense_Mutation_p.R160Q			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	160						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTCAGGAACGAGAGCTGACC	0.473000													120	77					0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26598211	26598211	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26598211A>G	ENST00000274849.1	+	2	342	c.311A>G	c.(310-312)gAc>gGc	p.D104G		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	104	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TACACCAAGGACTACACCGAG	0.622000													5	56					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38297938	38297938	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38297938A>G	ENST00000260630.3	-	3	1960	c.1559T>C	c.(1558-1560)gTc>gCc	p.V520A	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.V520A	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	520					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TCTGAGAGTGACATTGACTTT	0.428000													4	74					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58128306	58128306	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:58128306A>T	ENST00000184956.6	-	15	2338	c.2322T>A	c.(2320-2322)ggT>ggA	p.G774G	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	774							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGGGTAAAGGACCGTTCAGCA	0.537000													10	31					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137801825	137801825	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:137801825G>A	ENST00000371806.3	-	9	891	c.800C>T	c.(799-801)tCt>tTt	p.S267F		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	267	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACAATTCGAAGAACTCACATC	0.483000													40	125					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131255047	131255047	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131255047A>C	ENST00000303890.5	+	18	2228	c.1643A>C	c.(1642-1644)aAg>aCg	p.K548T	ODF2_ENST00000434106.2_Missense_Mutation_p.K572T|ODF2_ENST00000444119.2_Missense_Mutation_p.K548T|ODF2_ENST00000372796.4_Missense_Mutation_p.K572T|ODF2_ENST00000351030.3_Missense_Mutation_p.K567T|ODF2_ENST00000393533.2_Missense_Mutation_p.K572T|ODF2_ENST00000546203.1_Missense_Mutation_p.K553T|ODF2_ENST00000372791.3_Missense_Mutation_p.K553T|ODF2_ENST00000372814.3_Missense_Mutation_p.K616T|ODF2_ENST00000448249.3_Missense_Mutation_p.K491T|ODF2_ENST00000372807.5_Missense_Mutation_p.K567T	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	572					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGAGAACAAGATCCTTAAA	0.443000													17	19					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552058	27552058	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27552058A>C	ENST00000359541.2	-	14	2398	c.1969T>G	c.(1969-1971)Ttg>Gtg	p.L657V	GTF3C2_ENST00000264720.3_Missense_Mutation_p.L657V			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	657						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTACTCAAGAAGCGCTTG	0.502000													82	170					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29606708	29606708	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:29606708C>T	ENST00000389048.3	-	5	2078	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	391	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCGATTCTTCCCTGGAGCAC	0.498000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	55					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204399104	204399104	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:204399104T>G	ENST00000367187.3	-	30	4899	c.4343A>C	c.(4342-4344)gAg>gCg	p.E1448A	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E1420A	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1448	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTAGCTCCTCCCTCCGCCG	0.682000													18	82					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749795	142749795	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142749795C>T	ENST00000418316.1	+	1	379	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCCCTTGATCGCTTTGTGGC	0.577000													60	75					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791794	220791794	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220791794A>C	ENST00000402574.1	+	8	1292	c.290A>C	c.(289-291)aAg>aCg	p.K97T	MARK1_ENST00000366917.4_Missense_Mutation_p.K232T|MARK1_ENST00000366918.4_Missense_Mutation_p.K210T	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	232	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAAGGAAAGAAGTATGATGGG	0.448000													9	47					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286023	130286023	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130286023A>G	ENST00000358511.6	+	4	1791	c.1760A>G	c.(1759-1761)gAa>gGa	p.E587G	COL6A6_ENST00000453409.2_Missense_Mutation_p.E587G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	587	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCAGGAGAGGAAAAGAGAGTG	0.433000													23	91					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426936	116426936	+	Missense_Mutation	SNP	G	G	A	rs78385846		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:116426936G>A	ENST00000395715.3	-	7	3777	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	TRPS1_ENST00000220888.5_Missense_Mutation_p.S1054F|TRPS1_ENST00000520276.1_Missense_Mutation_p.S1058F|TRPS1_ENST00000519076.1_Missense_Mutation_p.S808F	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1054	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTCAGATACGGATGAACTATT	0.438000									Langer-Giedion syndrome				27	114					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44152191	44152191	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44152191T>G	ENST00000291539.6	+	6	514	c.454T>G	c.(454-456)Tta>Gta	p.L152V	PDE9A_ENST00000335512.4_Missense_Mutation_p.L92V|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398224.3_Missense_Mutation_p.L25V|PDE9A_ENST00000398232.3_Missense_Mutation_p.L85V|PDE9A_ENST00000398234.3_Missense_Mutation_p.L51V|PDE9A_ENST00000328862.6_Missense_Mutation_p.L126V|PDE9A_ENST00000398236.3_Missense_Mutation_p.L66V|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.L111V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	152					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GAGAGAAGAATTAATCCAGAG	0.488000													4	27					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131035	45131035	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45131035G>A	ENST00000457685.2	-	6	2152	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	ZNF334_ENST00000593880.1_Missense_Mutation_p.H338Y|ZNF334_ENST00000347606.4_Missense_Mutation_p.H315Y			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCCCTCCATGAATTTTCTGG	0.448000													66	76					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412356	14412356	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:14412356C>T	ENST00000382080.1	-	2	834	c.119G>A	c.(118-120)gGa>gAa	p.G40E	SGCZ_ENST00000421524.2_Missense_Mutation_p.G27E	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	27					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCATAAATTCCCACTGGGTA	0.383000													92	86					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084284	31084284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31084284G>A	ENST00000376288.2	-	2	1134	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	370	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCACTGGCTGGAATGCAATG	0.632000													9	9					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175151	57175151	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57175151C>T	ENST00000537055.2	-	2	1647	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACTCGTAGGGCTTCTCCCCGG	0.662000													46	325					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187442764	187442764	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:187442764G>A	ENST00000406870.2	-	9	2308	c.1942C>T	c.(1942-1944)Cac>Tac	p.H648Y	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.H592Y|BCL6_ENST00000232014.4_Missense_Mutation_p.H648Y|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	648					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ATTCGCAGGTGGCTCTTCAGA	0.582000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								20	105					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197549	11197549	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:11197549C>T	ENST00000337414.4	-	7	2225	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	ARHGAP6_ENST00000380718.1_Silent_p.G451G|ARHGAP6_ENST00000380732.3_Silent_p.G483G|ARHGAP6_ENST00000534860.1_Silent_p.G276G|ARHGAP6_ENST00000413512.3_Silent_p.G260G|ARHGAP6_ENST00000380736.1_Silent_p.G248G|ARHGAP6_ENST00000303025.6_Silent_p.G248G|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	451	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.G451G(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGACATCAATCCCACGGTCAA	0.527000													51	1					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704227	131704227	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:131704227T>A	ENST00000409359.1	+	4	4212	c.3014T>A	c.(3013-3015)cTc>cAc	p.L1005H	ARHGEF4_ENST00000326016.5_Intron|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000525839.1_Intron|ARHGEF4_ENST00000392953.3_Intron			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	0					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGCGCCTCTCTCTTTTGCTAT	0.537000													16	61					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106979	186106979	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186106979G>A	ENST00000271588.4	+	89	14028	c.13799G>A	c.(13798-13800)aGg>aAg	p.R4600K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4600K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4600	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGCACAAGGAGCTGTGGA	0.468000													40	66					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653315	1653315	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1653315C>T	ENST00000252804.4	-	17	2287	c.2237G>A	c.(2236-2238)gGc>gAc	p.G746D		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	746					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)		GTTACAGGTGCCGTCGTGCGT	0.617000													78	64					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21944461	21944461	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21944461T>A	ENST00000542643.2	-	7	373	c.71A>T	c.(70-72)gAg>gTg	p.E24V	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E55V|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E24V|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E88V|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.E24V	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	24					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTAGTCCTCCTCTGTCTGCAA	0.597000													18	90					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26156151	26156151	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26156151A>C	ENST00000466284.1	+	5	2076	c.494A>C	c.(493-495)cAt>cCt	p.H165P	MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000374300.3_Silent_p.P201P|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000474295.1_Missense_Mutation_p.H165P|MTFR1L_ENST00000374303.2_Silent_p.P201P|MTFR1L_ENST00000374301.3_Silent_p.P201P|MTFR1L_ENST00000524618.1_Silent_p.P104P|MTFR1L_ENST00000374307.5_Silent_p.P189P					mitochondrial fission regulator 1-like																		CTGAGCTTCCATCAGTCCCCC	0.502000													25	132					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128588146	128588146	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128588146A>G	ENST00000402030.2	+	7	1175	c.1103A>G	c.(1102-1104)aAg>aGg	p.K368R	IRF5_ENST00000357234.5_Missense_Mutation_p.K384R|IRF5_ENST00000477535.1_Missense_Mutation_p.K282R|IRF5_ENST00000249375.4_Missense_Mutation_p.K368R|IRF5_ENST00000473745.1_Missense_Mutation_p.K368R	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	368					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTCAAGACCAAGCTTTTCAGC	0.587000													6	107					0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19707193	19707193	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:19707193A>C	ENST00000438754.2	+	2	430	c.150A>C	c.(148-150)aaA>aaC	p.K50N	SEPT5_ENST00000455784.2_Missense_Mutation_p.K41N|SEPT5_ENST00000406395.1_Missense_Mutation_p.K41N|SEPT5_ENST00000383045.3_Missense_Mutation_p.K50N	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	41					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGGTGAAGAAAGGCTTTGACT	0.612000													7	43					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417819	46417819	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:46417819C>T	ENST00000341294.2	-	1	217	c.133G>A	c.(133-135)Ggg>Agg	p.G45R		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	45					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		TGATCCTGCCCCAGCGGAGGC	0.662000													26	91					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131808	130131808	+	Translation_Start_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:130131808A>C	ENST00000525842.1	-	0	328				ZBTB44_ENST00000357899.4_De_novo_Start_InFrame|ZBTB44_ENST00000397753.1_De_novo_Start_InFrame	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CAAGGATGCAAATAAATCAGA	0.343000													4	2					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167973186	167973186	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167973186T>C	ENST00000367840.3	+	9	1170	c.1076T>C	c.(1075-1077)gTt>gCt	p.V359A	DCAF6_ENST00000312263.6_Missense_Mutation_p.V359A|DCAF6_ENST00000432587.2_Missense_Mutation_p.V328A|DCAF6_ENST00000367843.3_Missense_Mutation_p.V359A	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	359					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCAAGTGAGGTTGCACAAAGC	0.383000													17	21					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63682182	63682182	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:63682182A>G	ENST00000301459.4	-	5	812	c.425T>C	c.(424-426)cTg>cCg	p.L142P		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	142	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTGTTCAAACAGCACCTTGTC	0.592000													20	377					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44057491	44057491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44057491C>T	ENST00000359947.4	+	10	1880	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*	PTPRF_ENST00000438120.1_Nonsense_Mutation_p.Q514*|PTPRF_ENST00000422171.2_5'UTR|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.Q514*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.Q514*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	514	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGCCTGCCCAGCCCGCGGA	0.637000													5	21					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	10					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55803423	55803423	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:55803423A>C	ENST00000395863.3	-	2	978	c.473T>G	c.(472-474)tTt>tGt	p.F158C	BMP7_ENST00000450594.2_Missense_Mutation_p.F158C|BMP7_ENST00000395864.3_Missense_Mutation_p.F158C	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	158					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GGAAAGATCAAACCGGAACTC	0.522000													56	148					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220213566	220213566	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220213566G>A	ENST00000366923.3	-	2	361	c.92C>T	c.(91-93)tCc>tTc	p.S31F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	31					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCTTCAACGGAAATGCTGAC	0.303000													37	54					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62579860	62579860	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62579860C>T	ENST00000371158.2	+	35	4711	c.4597C>T	c.(4597-4599)Cct>Tct	p.P1533S	INADL_ENST00000316485.6_Missense_Mutation_p.P1563S|INADL_ENST00000545929.1_Missense_Mutation_p.P178S|INADL_ENST00000543708.1_Missense_Mutation_p.P347S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1533	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAGATTTTCCCTGTGGATCT	0.567000													23	29					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48424030	48424030	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48424030C>T	ENST00000264313.6	+	8	2100	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S394F	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	561						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TATTACAGATCCTTGCCAGCT	0.358000													9	5					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324085	25324085	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25324085G>A	ENST00000549804.2	+	0	1320																											AGATGGCAGGGAACCCATGGA	0.502000													6	10					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13053636	13053636	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:13053636C>T	ENST00000379350.1	+	4	419	c.290C>T	c.(289-291)tCc>tTc	p.S97F	PHACTR1_ENST00000332995.7_Missense_Mutation_p.S97F|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000379345.2_5'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	97						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CGTTCTGACTCCCTCGTCCCA	0.493000													13	15					0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103236285	103236285	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:103236285T>A	ENST00000251810.3	-	5	782	c.539A>T	c.(538-540)aAa>aTa	p.K180I	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.K128I|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	180					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AAAAGTAGATTTTCTATCTGC	0.343000								Modulation of nucleotide pools					41	131					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45009485	45009485	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45009485A>C	ENST00000415811.2	+	4	311	c.256A>C	c.(256-258)Aac>Cac	p.N86H	GOSR2_ENST00000439730.2_Missense_Mutation_p.N86H|GOSR2_ENST00000575949.1_Missense_Mutation_p.N86H|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.N86H|GOSR2_ENST00000225567.4_Missense_Mutation_p.N86H|GOSR2_ENST00000393456.2_Missense_Mutation_p.N86H|GOSR2_ENST00000576910.2_Missense_Mutation_p.N86H	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	86					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGCGCTCAGAAACTTCCAGCA	0.532000													41	93					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170068	22170068	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22170068C>T	ENST00000397126.4	-	3	324	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF208_ENST00000597040.1_Missense_Mutation_p.G27E|ZNF208_ENST00000601773.1_Missense_Mutation_p.G59E|ZNF208_ENST00000599916.1_Missense_Mutation_p.G59E	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G59E(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGACTCTTTTCCTTCCTCCAG	0.413000													28	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613097	179613097	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179613097G>A	ENST00000360870.5	-	46	14252	c.14030C>T	c.(14029-14031)tCt>tTt	p.S4677F	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	792	Ig-like 27.						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)			TTGACTGGAAGAAATTTCTTG	0.333000													20	51					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813489	101813489	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:101813489G>A	ENST00000506729.1	-	3	864	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F231F|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	231						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAAGGATGAAGAAAGACAGGT	0.378000													29	49					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332510	123332510	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123332510A>C	ENST00000223023.4	-	9	1570	c.1238T>G	c.(1237-1239)aTt>aGt	p.I413S		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	413	WH2 1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCCTCTCTAATTTGATCTAA	0.542000													10	64					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076780	73076780	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73076780T>C	ENST00000263674.3	+	20	6133	c.5783T>C	c.(5782-5784)cTg>cCg	p.L1928P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1928					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACAGCGCTGCTGGTGTGTGAG	0.642000													4	45					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20721139	20721139	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:20721139T>G	ENST00000404938.2	+	15	2371	c.1719T>G	c.(1717-1719)ggT>ggG	p.G573G	ABCB5_ENST00000258738.6_Silent_p.G128G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	128	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGAGCAAAGGTCGGACTACAA	0.413000													9	33					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9782037	9782037	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9782037A>G	ENST00000536656.1	+	17	2340	c.2132A>G	c.(2131-2133)gAa>gGa	p.E711G	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000361110.2_Missense_Mutation_p.E711G|PIK3CD_ENST00000377346.4_Missense_Mutation_p.E687G			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	687					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCAGGGGGAAGCACTGAGC	0.667000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	52					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352492	103352492	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103352492C>T	ENST00000358392.2	-	63	5082	c.4765G>A	c.(4765-4767)Gaa>Aaa	p.E1589K	COL11A1_ENST00000512756.1_Missense_Mutation_p.E1461K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1577K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1538K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1577	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATATTTCTTCCATTCCATCC	0.403000													56	55					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96282324	96282324	+	Silent	SNP	G	G	A	rs147346095	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:96282324G>A	ENST00000347108.3	-	5	1161	c.729C>T	c.(727-729)atC>atT	p.I243I	DZIP1_ENST00000361156.3_Silent_p.I243I|DZIP1_ENST00000376829.2_Silent_p.I243I|DZIP1_ENST00000361396.2_Silent_p.I243I			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	243					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.I243I(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCAATACGACGATCTCACTCC	0.468000													26	15					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397035	3397035	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3397035C>T	ENST00000378378.4	+	15	2419	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R376W|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R384W|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R384W	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	672	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAGAGGCTCCGGGACGGAGA	0.672000													41	57					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603530	138603530	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138603530A>C	ENST00000440172.1	-	2	890	c.842T>G	c.(841-843)cTt>cGt	p.L281R	KIAA1549_ENST00000422774.1_Missense_Mutation_p.L281R|KIAA1549_ENST00000242365.4_Missense_Mutation_p.L231R	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	281						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTTAAAAAAAGGGTGGTTTC	0.502000			O	BRAF	pilocytic astrocytoma								14	35					0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152488014	152488014	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152488014G>T	ENST00000368790.3	+	2	228	c.155G>T	c.(154-156)tGc>tTc	p.C52F		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	52	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCAGGCTGCTGCGGCTCC	0.751000													6	14					0.0215528	0.0215663	1	1	0
PITPNM1	9600	broad.mit.edu	37	11	67267283	67267283	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67267283T>G	ENST00000356404.3	-	8	1307	c.1082A>C	c.(1081-1083)gAg>gCg	p.E361A	PITPNM1_ENST00000534749.1_Missense_Mutation_p.E361A|PITPNM1_ENST00000436757.2_Missense_Mutation_p.E361A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	361					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GAAGACCTCCTCACTGTCCGA	0.582000													15	56					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368763	111368763	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111368763G>A	ENST00000428084.1	-	53	5767	c.5495C>T	c.(5494-5496)tCt>tTt	p.S1832F	DOCK4_ENST00000437633.1_Missense_Mutation_p.S1823F|DOCK4_ENST00000494651.2_Missense_Mutation_p.S706F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1823	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGGGTGAAAGACTGCACAGA	0.597000													8	13					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27212510	27212510	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27212510A>C	ENST00000374135.4	-	3	883	c.683T>G	c.(682-684)cTc>cGc	p.L228R	GPN2_ENST00000374133.3_Missense_Mutation_p.L49R	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	228							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GTCTTCGATGAGCTGCACTAG	0.517000													15	124					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945664	16945664	+	RNA	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16945664T>C	ENST00000412962.1	-	0	1855																											CTCAGGCTTCTTGCTGCCTAG	0.622000													12	378					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906379	906379	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:906379C>T	ENST00000379409.2	+	5	755	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.P202L|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.P202L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	242										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACTCGGCACCCCCACAGGTC	0.726000													16	9					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957224	49957224	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49957224A>G	ENST00000376056.2	-	5	2263	c.2113T>C	c.(2113-2115)Tat>Cat	p.Y705H	AKAP4_ENST00000358526.2_Missense_Mutation_p.Y714H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.Y331H|AKAP4_ENST00000376064.3_Missense_Mutation_p.Y705H			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	714					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCGTTGCTATACTTAGCCATG	0.468000													15	24					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101420	58101420	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58101420C>G	ENST00000597850.1	+	4	456	c.241C>G	c.(241-243)Cag>Gag	p.Q81E	ZIK1_ENST00000307468.4_Silent_p.T25T|ZIK1_ENST00000599456.1_Missense_Mutation_p.Q26E|ZIK1_ENST00000536878.2_Missense_Mutation_p.Q68E	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	81	KRAB.				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)		ACCTTCTGACCAGAATGTTTC	0.463000													14	59					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959759	157959759	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:157959759G>A	ENST00000389413.3	-	6	877	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PTPRN2_ENST00000404321.2_Silent_p.P281P|PTPRN2_ENST00000389416.4_Silent_p.P241P|PTPRN2_ENST00000389418.4_Silent_p.P258P|PTPRN2_ENST00000409483.1_Silent_p.P220P	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	258						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCCCTCCCCGGGGGGAGCTG	0.652000													13	9					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91937287	91937287	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91937287A>C	ENST00000554684.1	-	10	2011	c.1515T>G	c.(1513-1515)ttT>ttG	p.F505L	SMEK1_ENST00000555462.1_Missense_Mutation_p.F279L|SMEK1_ENST00000554943.1_Missense_Mutation_p.F518L|SMEK1_ENST00000428424.2_Missense_Mutation_p.F279L|SMEK1_ENST00000337238.4_Missense_Mutation_p.F505L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	518						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCTCCACACAAAATGTTAACA	0.348000													8	49					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44816856	44816856	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:44816856G>C	ENST00000326047.4	+	3	322	c.173G>C	c.(172-174)aGt>aCt	p.S58T		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	58	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCCTCCACGAGTCTCCGGCTG	0.463000													23	51					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155254976	155254976	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:155254976C>T	ENST00000285718.7	+	0	1281				WASH6P_ENST00000461007.1_RNA																							CAGACTCCATCCCTCCTGTGC	0.642000													5	13					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397303	196397303	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196397303C>T	ENST00000367433.5	-	10	1017	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	KCNT2_ENST00000367431.4_Missense_Mutation_p.V306I|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.V306I|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	306						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTGAGCTGACACACAGGACG	0.393000													13	55					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38945127	38945127	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38945127G>A	ENST00000357387.3	-	35	4707	c.4677C>T	c.(4675-4677)atC>atT	p.I1559I	RICTOR_ENST00000296782.5_Silent_p.I1583I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1559					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAGGATTATGGATAGTCTGCT	0.403000													96	25					0	0	1	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013093	107013093	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107013093C>T	ENST00000390625.2	-	0	281																											CTAATGAAACCTACCCACTCC	0.512000													47	64					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165973	3165973	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3165973C>T	ENST00000520002.1	-	25	4242	c.3687G>A	c.(3685-3687)agG>agA	p.R1229R	CSMD1_ENST00000537824.1_Silent_p.R1228R|CSMD1_ENST00000542608.1_Silent_p.R1228R|CSMD1_ENST00000400186.3_Silent_p.R1229R|CSMD1_ENST00000539096.1_Silent_p.R1228R|CSMD1_ENST00000602557.1_Silent_p.R1229R|CSMD1_ENST00000602723.1_Silent_p.R1229R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1229	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATCACGGATCCTATAGCCGT	0.507000													16	15					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032337	9032337	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9032337C>T	ENST00000383836.3	-	21	3172	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	SRGAP3_ENST00000360413.3_Silent_p.A891A	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	915					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCCGAACGTCGCCATCCTCC	0.657000			T	RAF1	pilocytic astrocytoma								6	21					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175305	140175305	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140175305A>G	ENST00000526136.1	+	1	756	c.756A>G	c.(754-756)ttA>ttG	p.L252L	PCDHA2_ENST00000520672.2_Silent_p.L252L|PCDHA2_ENST00000378132.1_Silent_p.L252L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAATTGTTAGAGAATACGG	0.398000													22	41					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122217648	122217648	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:122217648G>A	ENST00000263710.4	-	12	1475	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	CLASP1_ENST00000541859.1_Silent_p.F131F|CLASP1_ENST00000397587.3_Silent_p.F362F|CLASP1_ENST00000545861.1_Silent_p.F130F|CLASP1_ENST00000541377.1_Silent_p.F362F|CLASP1_ENST00000455322.2_Silent_p.F362F|CLASP1_ENST00000409078.3_Silent_p.F362F|CLASP1_ENST00000430234.1_5'UTR	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	362					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)					AATGTTGAAAGAAGTTATCAT	0.403000													14	42					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100609808	100609808	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100609808C>T	ENST00000319509.7	+	9	2448	c.2448C>T	c.(2446-2448)tcC>tcT	p.S816S	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CACCTAGGTCCTGGGACCAGG	0.692000													16	117					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174695	207174695	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207174695C>T	ENST00000374423.3	+	5	5829	c.5443C>T	c.(5443-5445)Cca>Tca	p.P1815S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1815							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCCTGATGAACCAGTTCTTGA	0.398000													11	14					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9427561	9427561	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9427561G>A	ENST00000328089.6	+	3	1090	c.749G>A	c.(748-750)gGg>gAg	p.G250E	SPSB1_ENST00000357898.3_Missense_Mutation_p.G250E|SPSB1_ENST00000377399.2_Missense_Mutation_p.G250E	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	250	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGCCCTGGGGAGGGAGCGC	0.672000													68	37					0	0	1	0	0
CCNO	10309	broad.mit.edu	37	5	54528360	54528360	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:54528360G>A	ENST00000282572.4	-	2	552	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	132					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GCTTACAGCGGGATTCCGCCG	0.647000													16	12					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020367	5020367	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5020367G>C	ENST00000321543.1	+	1	155	c.155G>C	c.(154-156)tGg>tCg	p.W52S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGTCATTTGGATAGAATCC	0.438000													52	69					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160326852	160326852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160326852C>T	ENST00000368063.1	+	17	2036	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	NCSTN_ENST00000535857.1_Nonsense_Mutation_p.Q468*|NCSTN_ENST00000392212.4_Nonsense_Mutation_p.Q586*|NCSTN_ENST00000368065.4_Nonsense_Mutation_p.Q348*|NCSTN_ENST00000294785.5_Nonsense_Mutation_p.Q606*			Q92542	NICA_HUMAN	nicastrin	606					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCATGGGTCCAGGGCCCTTT	0.547000													50	63					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29104742	29104742	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:29104742G>A	ENST00000261590.8	+	8	1114	c.905G>A	c.(904-906)gGt>gAt	p.G302D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	302	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GATGAAATAGGTTCTGATAAT	0.378000													34	4					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26694951	26694951	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26694951C>T	ENST00000226218.4	-	7	1727	c.1109G>A	c.(1108-1110)aGg>aAg	p.R370K	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	370	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ATGCCTAAACCTTTGTTTCTT	0.652000													4	11					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36937364	36937364	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36937364C>T	ENST00000262865.4	+	3	379	c.290C>T	c.(289-291)tCc>tTc	p.S97F	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	97					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CTTCCCAGTTCCCAGATAAGC	0.453000													53	64					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002976	122002976	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122002976C>T	ENST00000498619.1	+	7	2643	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	CASR_ENST00000296154.5_Silent_p.F725F|CASR_ENST00000490131.1_Silent_p.F725F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	725					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACCTGCAGTTCCTGCTGGTTT	0.572000													52	2					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45959846	45959846	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45959846A>C	ENST00000257821.4	-	15	2093	c.1470T>G	c.(1468-1470)gaT>gaG	p.D490E	PHF21A_ENST00000418153.2_Missense_Mutation_p.D489E|PHF21A_ENST00000323180.6_Missense_Mutation_p.D443E|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	489	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CGCTGCAAAAATCCTCATGAA	0.373000													11	56					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7893021	7893021	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:7893021C>T	ENST00000264668.2	+	11	1663	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	MTRR_ENST00000440940.2_Missense_Mutation_p.P518S	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	545	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGCCCTGGCTCCTAAGGTAAG	0.443000													8	28					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20156418	20156418	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:20156418C>T	ENST00000263754.4	+	7	1543	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	363					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAAAACTCTCCCATCTGGGAT	0.393000													10	27					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822439	26822439	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:26822439G>A	ENST00000376236.4	+	9	1340	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	295					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTAAGAACAAGGAATCCTTAC	0.323000													8	17					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76535953	76535953	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76535953C>T	ENST00000389840.5	-	18	2666	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E848K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGAATAGTTCTGCGTTTTCC	0.498000													20	13					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110975	81110975	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81110975G>A	ENST00000228644.3	+	1	285	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E45*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCACAAAGCAGAGCTGCAGGG	0.617000													13	0					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897961	61897961	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61897961A>C	ENST00000394818.3	+	4	1164	c.962A>C	c.(961-963)aAg>aCg	p.K321T	INCENP_ENST00000278849.4_Missense_Mutation_p.K321T	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	321					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTAGCCCAGAAGTACTCTCTG	0.612000													17	106					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477589	31477589	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31477589C>T	ENST00000408912.3	+	8	2789	c.2472C>T	c.(2470-2472)gaC>gaT	p.D824D	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Silent_p.D761D|ARMC5_ENST00000563544.1_Silent_p.D729D|ARMC5_ENST00000412665.2_Silent_p.D373D|ARMC5_ENST00000268314.4_Silent_p.D729D			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	729							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGACCTAGACTCACCTTCCC	0.632000													7	31					0	0	1	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84549476	84549476	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84549476G>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							CAGAAGTGCAGGTCAGAGCAG	0.522000													8	20					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512757	152512757	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152512757A>G	ENST00000397345.3	-	49	6607	c.6405T>C	c.(6403-6405)acT>acC	p.T2135T	NEB_ENST00000603639.1_Silent_p.T2135T|NEB_ENST00000172853.10_Silent_p.T2135T|NEB_ENST00000604864.1_Silent_p.T2135T|NEB_ENST00000427231.2_Silent_p.T2135T|NEB_ENST00000409198.1_Silent_p.T2135T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2135					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTGTAGTTAGTGTTGGTGA	0.463000													26	226					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3381641	3381641	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3381641T>G	ENST00000354599.6	-	4	485	c.381A>C	c.(379-381)aaA>aaC	p.K127N	ZNF195_ENST00000005082.9_Missense_Mutation_p.K176N|ZNF195_ENST00000343338.7_Missense_Mutation_p.K131N|ZNF195_ENST00000429541.2_Missense_Mutation_p.K131N|ZNF195_ENST00000526601.1_Missense_Mutation_p.K180N|ZNF195_ENST00000399602.4_Missense_Mutation_p.K199N|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	199	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATTATAATCTTTTTGCAACT	0.279000													9	38					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75357386	75357386	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:75357386T>A	ENST00000297784.5	+	10	1020	c.480T>A	c.(478-480)ttT>ttA	p.F160L	TMC1_ENST00000340019.3_Missense_Mutation_p.F160L|TMC1_ENST00000396237.3_Missense_Mutation_p.F160L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	160	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCGTGATTTTGAGAACTTCA	0.383000													6	20					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729232	42729232	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42729232A>C	ENST00000301215.3	+	3	902	c.677A>C	c.(676-678)gAg>gCg	p.E226A		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	226	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTAGAGAAAGAGGAGCGCAAT	0.552000													16	88					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241831048	241831048	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241831048C>T	ENST00000307486.8	-	2	298	c.200G>A	c.(199-201)gGg>gAg	p.G67E	C2orf54_ENST00000402775.2_Missense_Mutation_p.G48E|C2orf54_ENST00000388934.4_Missense_Mutation_p.G216E			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	216										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTGCTGCACCCCCTCCAGGGC	0.657000													29	43					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236719413	236719413	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:236719413T>C	ENST00000366582.3	-	38	5615	c.5501A>G	c.(5500-5502)gAg>gGg	p.E1834G	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1753G	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1834					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCAGTTCTTCTCAATCTGCTT	0.418000													7	90					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314056	54314056	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54314056G>A	ENST00000324134.6	-	3	1025	c.857C>T	c.(856-858)cCc>cTc	p.P286L	NLRP12_ENST00000391773.1_Missense_Mutation_p.P286L|NLRP12_ENST00000391775.3_Missense_Mutation_p.P286L|NLRP12_ENST00000354278.3_Missense_Mutation_p.P286L|NLRP12_ENST00000351894.4_Missense_Mutation_p.P286L|NLRP12_ENST00000535162.1_Missense_Mutation_p.P286L|NLRP12_ENST00000345770.5_Missense_Mutation_p.P286L|NLRP12_ENST00000391772.1_Missense_Mutation_p.P286L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	286	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGGCGCTCGGGAACTCGGAT	0.602000													34	20					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098914	11098914	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:11098914G>A	ENST00000470054.1	-	0	11									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctcagcgggagataccagaga	0.577000													5	7					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818688	166818688	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:166818688A>G	ENST00000367875.1	+	5	1232	c.872A>G	c.(871-873)gAa>gGa	p.E291G	POGK_ENST00000536514.1_Missense_Mutation_p.E206G|POGK_ENST00000367876.4_Missense_Mutation_p.E291G|POGK_ENST00000537173.1_Missense_Mutation_p.E173G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	291	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AAAGCTCTCGAAATCGCCCAG	0.522000													6	51					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805739	50805739	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:50805739C>T	ENST00000263046.4	+	6	1066	c.900C>T	c.(898-900)atC>atT	p.I300I	TFAP2B_ENST00000393655.3_Silent_p.I291I			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	291			R -> C (in CHAR).		nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TAGAAAAAATCGGTTTGAATT	0.458000													28	82					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727723	13727723	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13727723C>T	ENST00000265104.4	-	70	12030	c.11926G>A	c.(11926-11928)Gaa>Aaa	p.E3976K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3976					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCGGGTTTTCCTTATCAAAC	0.403000									Kartagener syndrome				40	26					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2428309	2428309	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:2428309C>T	ENST00000449969.1	+	15	2056	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.A659V|PLCH2_ENST00000378486.3_Missense_Mutation_p.A659V|PLCH2_ENST00000419816.2_Missense_Mutation_p.A659V|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	659	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GAGACCAAGGCCCACCAGATT	0.662000													43	51					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17720863	17720863	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17720863G>A	ENST00000434762.2	+	0	1301							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GATTCCATTGGGAACCTGATG	0.567000													18	13					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34191043	34191043	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34191043G>A	ENST00000373381.4	-	17	2778	c.2602C>T	c.(2602-2604)Ccc>Tcc	p.P868S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	828	Sushi 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)				AGGAACTGGGGAACCTGGGTC	0.557000													29	32					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413309	50413309	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50413309G>A	ENST00000435965.1	-	20	1949	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CACNA2D2_ENST00000424201.2_Silent_p.I592I|CACNA2D2_ENST00000479441.1_Silent_p.I592I|CACNA2D2_ENST00000429770.1_Silent_p.I592I|CACNA2D2_ENST00000360963.3_Silent_p.I523I|CACNA2D2_ENST00000423994.2_Silent_p.I592I|CACNA2D2_ENST00000266039.3_Silent_p.I592I|CACNA2D2_ENST00000395083.1_Silent_p.I592I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	592					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCTCCGACGGATCTGGAAGG	0.592000													19	42					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716591	40716591	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40716591C>T	ENST00000393818.2	+	3	1499	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	COASY_ENST00000421097.2_Missense_Mutation_p.P348L|COASY_ENST00000590958.1_Missense_Mutation_p.P377L|COASY_ENST00000420359.1_Missense_Mutation_p.P348L|COASY_ENST00000449624.1_Missense_Mutation_p.P53L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	348	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTTCGGCCTCCATATGTAAGC	0.577000													18	45					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52511636	52511636	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52511636T>C	ENST00000345716.4	+	9	1099	c.965T>C	c.(964-966)tTg>tCg	p.L322S	NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000420808.2_Missense_Mutation_p.L322S|NISCH_ENST00000488380.1_Missense_Mutation_p.L322S|NISCH_ENST00000479054.1_Missense_Mutation_p.L322S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	322	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACAATGGATTGCTGGTTGTG	0.537000													17	87					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39307973	39307973	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39307973C>T	ENST00000221418.4	-	5	738	c.506G>A	c.(505-507)gGg>gAg	p.G169E		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AATGCAGCCCCCATGGACGGC	0.672000													2	1					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340586	121340586	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121340586A>C	ENST00000338040.4	+	3	724	c.310A>C	c.(310-312)Aat>Cat	p.N104H		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	104					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCGCTGGCCAAATGTGGACTC	0.587000													91	2					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808596	241808596	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241808596G>A	ENST00000307503.3	+	2	562	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	59					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GATCATGGACGAGATCAAGGA	0.617000													15	70					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28228901	28228901	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28228901G>A	ENST00000305242.5	-	14	2114	c.2022C>T	c.(2020-2022)atC>atT	p.I674I	ARMC4_ENST00000545014.1_Silent_p.I199I|ARMC4_ENST00000537576.1_Silent_p.I366I	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	674							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGTTTTCAATGATCCTTTCTG	0.418000													11	44					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1013258	1013258	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1013258G>A	ENST00000356663.3	-	3	710	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	TMEM259_ENST00000333175.5_Missense_Mutation_p.P197S	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		GGCGTCTCGGGGAAGGGGAAC	0.637000													35	44					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145620651	145620651	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145620651T>G	ENST00000349769.3	-	27	3189	c.3096_splice	c.e27+1	p.K1032_splice		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1032					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGGGCAGACCTTAGACTCCAC	0.637000													14	80					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50774163	50774163	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:50774163A>C	ENST00000433963.1	+	12	2204	c.1704A>C	c.(1702-1704)gtA>gtC	p.V568V	USP8_ENST00000307179.4_Silent_p.V568V|USP8_ENST00000425032.3_Silent_p.V491V|USP8_ENST00000396444.3_Silent_p.V568V	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	568					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGAAATCTGTAGAAGATAGGG	0.418000													19	0					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272907	52272907	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52272907T>G	ENST00000598776.1	+	2	1768	c.996T>G	c.(994-996)acT>acG	p.T332T	FPR2_ENST00000598953.1_Silent_p.T332T|FPR2_ENST00000340023.6_Silent_p.T332T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	332					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAGCCCCAACTAATGACACGG	0.537000													7	89					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146428	70146428	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70146428C>T	ENST00000335568.5	+	1	212	c.210C>T	c.(208-210)ttC>ttT	p.F70F	UGT2B28_ENST00000511240.1_Silent_p.F70F	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	70					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATGACGCATTCACTCTTAAAC	0.368000													27	70					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243638	12243638	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12243638C>T	ENST00000334213.5	-	4	1587	c.1363G>A	c.(1363-1365)Gta>Ata	p.V455I	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TTGCCACATACCTTACACTCA	0.428000													6	81					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701739	103701739	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103701739G>A	ENST00000245312.3	-	5	1415	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	273					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGAGCTGAACGATGGTGGAAC	0.463000													28	43					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100828170	100828170	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100828170G>T	ENST00000355338.2	-	3	806	c.188C>A	c.(187-189)cCt>cAt	p.P63H	WARS_ENST00000344102.5_Missense_Mutation_p.P22H|WARS_ENST00000557135.1_Missense_Mutation_p.P63H|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Missense_Mutation_p.P22H|WARS_ENST00000392882.2_Missense_Mutation_p.P63H|WARS_ENST00000358655.4_Missense_Mutation_p.P22H	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	63	WHEP-TRS.				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GTTCCCTGGAGGACAGTCAGC	0.483000													43	49					2.19962e-31	2.22157e-31	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181735723	181735723	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181735723C>T	ENST00000526775.1	+	34	4965	c.4800C>T	c.(4798-4800)ttC>ttT	p.F1600F	CACNA1E_ENST00000360108.3_Silent_p.F1600F|CACNA1E_ENST00000358338.5_Silent_p.F1551F|CACNA1E_ENST00000367567.4_Silent_p.F1226F|CACNA1E_ENST00000367573.2_Silent_p.F1619F|CACNA1E_ENST00000357570.5_Silent_p.F1570F|CACNA1E_ENST00000367570.1_Silent_p.F1619F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1619					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCTTTTCTTCATTTATGCCA	0.473000													18	16					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465837	1465837	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1465837A>C	ENST00000535453.1	+	14	4250	c.2537A>C	c.(2536-2538)aAg>aCg	p.K846T	APC2_ENST00000238483.4_Missense_Mutation_p.K572T|APC2_ENST00000233607.2_Missense_Mutation_p.K846T|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	846					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAAGGCCAAGCTGGCGCTT	0.701000													6	23					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137533959	137533959	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137533959G>A	ENST00000394886.2	-	9	971	c.941C>T	c.(940-942)tCg>tTg	p.S314L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	314					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTCAACTCCGATTTCATGCT	0.328000													38	38					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580334	37580334	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:37580334A>C	ENST00000217429.4	+	4	1060	c.1019A>C	c.(1018-1020)aAg>aCg	p.K340T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	310					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGCAGCAACAAGTTTGATCAC	0.552000													27	106					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70781240	70781240	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70781240A>C	ENST00000370944.4	-	4	900	c.587T>G	c.(586-588)cTt>cGt	p.L196R	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.L161R	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	196					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTCCTCAAAAGAGCTGTAAC	0.294000													7	61					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44128288	44128288	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44128288G>A	ENST00000222374.2	-	8	1083	c.1035C>T	c.(1033-1035)gtC>gtT	p.V345V		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	345					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGAGCACCAGACCATGCCCA	0.607000													14	66					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36484943	36484943	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36484943G>A	ENST00000273183.3	+	2	499	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	STAC_ENST00000457375.2_Missense_Mutation_p.E67K|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	67					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.E67K(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AACCAACAGCGAAGACATGAA	0.532000													23	16					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11793449	11793449	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11793449A>C	ENST00000344893.3	+	0	1651					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CTCTACAGAGATGTGATGTGG	0.468000													15	66					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749922	234749922	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234749922C>T	ENST00000411486.2	-	8	1569	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	HJURP_ENST00000441687.1_Missense_Mutation_p.E417K|HJURP_ENST00000432087.1_Missense_Mutation_p.E448K	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	502					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCTAGGTTTTCAAAAGCCTCA	0.512000													22	59					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801546	109801546	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109801546C>T	ENST00000271332.3	+	2	3864	c.3803C>T	c.(3802-3804)cCc>cTc	p.P1268L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1268	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCATCCACCCCGTCGGAGGG	0.706000													16	15					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42967164	42967164	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42967164G>A	ENST00000327678.5	+	10	788	c.686G>A	c.(685-687)tGt>tAt	p.C229Y	SERHL2_ENST00000407614.4_Missense_Mutation_p.C49Y|SERHL2_ENST00000340239.4_Missense_Mutation_p.V191M|SERHL2_ENST00000335879.5_Missense_Mutation_p.C165Y|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	229						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						AGGGAGCTGTGTGCGCATTCC	0.552000													10	54					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88893049	88893049	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88893049G>A	ENST00000556553.1	+	6	1308		c.e6+1		SPATA7_ENST00000356583.5_Splice_Site|SPATA7_ENST00000045347.7_Splice_Site|SPATA7_ENST00000393545.4_Splice_Site			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7						response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CTGAATTAAGGTATGACACAT	0.348000													5	36					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113421241	113421241	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113421241A>C	ENST00000297405.5	-	33	5660	c.5416T>G	c.(5416-5418)Ttt>Gtt	p.F1806V	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1702V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1766V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1806	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCTGGAAAAATACAAACTGG	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	105					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952059	196952059	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196952059G>A	ENST00000367414.5	+	2	231	c.175G>A	c.(175-177)Gat>Aat	p.D59N	CFHR5_ENST00000256785.4_Missense_Mutation_p.D35N	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	35	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATTTCTGTATGATGAAGAAGA	0.333000													32	24					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9068638	9068638	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9068638G>A	ENST00000383836.3	-	13	2008	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.I503I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	527	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGATGTAACGGATGCAGCTCT	0.423000			T	RAF1	pilocytic astrocytoma								51	24					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222201	140222201	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140222201C>T	ENST00000531613.1	+	1	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S432L|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.632000													41	58					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40770580	40770580	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:40770580C>T	ENST00000373198.3	-	19	3046	c.2811G>A	c.(2809-2811)aaG>aaA	p.K937K	PTPRT_ENST00000373184.1_Silent_p.K905K|PTPRT_ENST00000356100.2_Silent_p.K924K|PTPRT_ENST00000373187.1_Silent_p.K915K|PTPRT_ENST00000373201.1_Silent_p.K905K|PTPRT_ENST00000373193.3_Silent_p.K918K|PTPRT_ENST00000373190.1_Silent_p.K914K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	915	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATATCGATTCTTATTGCGGT	0.483000													74	104					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643791	52643791	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52643791T>G	ENST00000356770.4	-	15	2011	c.2009A>C	c.(2008-2010)aAg>aCg	p.K670T	PBRM1_ENST00000409057.1_Missense_Mutation_p.K702T|PBRM1_ENST00000296302.7_Missense_Mutation_p.K702T|PBRM1_ENST00000409767.1_Missense_Mutation_p.K717T|PBRM1_ENST00000409114.3_Missense_Mutation_p.K717T|PBRM1_ENST00000394830.3_Missense_Mutation_p.K702T|PBRM1_ENST00000337303.4_Missense_Mutation_p.K702T|PBRM1_ENST00000410007.1_Missense_Mutation_p.K702T			Q86U86	PB1_HUMAN	polybromo 1	702					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCCATGGGCTTTTTAATAGT	0.418000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								10	79					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80050383	80050383	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:80050383T>C	ENST00000306749.2	-	8	1195	c.977A>G	c.(976-978)aAg>aGg	p.K326R		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	326	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CATGTTGGACTTGGTGGAGCC	0.701000													6	7					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37336636	37336636	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:37336636A>G	ENST00000373479.4	+	3	810	c.617A>G	c.(616-618)aAg>aGg	p.K206R	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.K206R	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	206					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTGGATCCTAAGTTGACTGCC	0.468000													16	57					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41057250	41057250	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41057250C>T	ENST00000399564.4	-	9	1330	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATTTCATTTTCCTTTACTGGA	0.403000													8	43					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87570256	87570256	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:87570256C>T	ENST00000370550.5	+	7	1311	c.948C>T	c.(946-948)ttC>ttT	p.F316F	HS2ST1_ENST00000356813.4_Intron|RP5-1052I5.2_ENST00000370548.2_Intron	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	316						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AGAATGAGTTCTATGAATTTG	0.388000													29	33					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719805	41719805	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41719805G>A	ENST00000400454.1	-	6	1479	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	334	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACGCTGCAGGACAAGGAAA	0.498000													14	62					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658696	97658696	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:97658696C>T	ENST00000370192.3	-	20	2651	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	851					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGACTCTGTCCATCCCAGTCT	0.448000													28	26					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091875	147091875	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:147091875G>A	ENST00000234739.3	+	8	2654	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	638	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCTGGCAGAGAAACAGCTGG	0.597000			T	"""IGH@, IGL@"""	B-ALL								28	42					0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585466	4585466	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:4585466G>A	ENST00000262352.3	+	12	1719	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	495					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.E495K(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCTTGACAACGAAGACTCAGA	0.473000													14	28					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95783666	95783666	+	Missense_Mutation	SNP	G	G	A	rs148958562	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95783666G>A	ENST00000272418.2	-	2	291	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MRPS5_ENST00000475040.1_5'UTR	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	28					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTGTTTAGGGAACACTGCCT	0.358000													28	9					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395663	43395663	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43395663G>A	ENST00000426263.3	-	5	738	c.560C>T	c.(559-561)cCc>cTc	p.P187L	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	187					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CAGCAGCAGGGGCCACAGGTC	0.657000													15	92					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17049365	17049365	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:17049365T>A	ENST00000395811.5	+	10	1254	c.1165T>A	c.(1165-1167)Ttc>Atc	p.F389I	MPRIP_ENST00000444976.1_Missense_Mutation_p.F351I|MPRIP_ENST00000341712.4_Missense_Mutation_p.F389I|MPRIP_ENST00000395804.3_Missense_Mutation_p.F389I	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	389	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCTGCTGAATTTCAAGAAAGG	0.537000													7	19					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468181	468181	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:468181T>G	ENST00000217244.3	-	12	1238	c.863A>C	c.(862-864)gAa>gCa	p.E288A	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.E288A|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.E152A|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.E288A	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	288	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GTGCTGATTTTCACTGTGGAC	0.527000													18	65					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41228857	41228857	+	Nonsense_Mutation	SNP	C	C	T	rs61750844		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:41228857C>T	ENST00000249749.5	+	9	1948	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	558					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTGCGGCTTCGACGGCCGGA	0.627000													22	0					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43323053	43323053	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:43323053C>T	ENST00000331495.3	+	23	3283	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.P561S|FMNL1_ENST00000328118.3_Missense_Mutation_p.P983S	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	983	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACCACATCCCCAGGCCTGTT	0.582000													64	9					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28209553	28209553	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:28209553A>C	ENST00000373921.3	+	4	1722	c.1719_splice	c.e4+1	p.K573_splice	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Splice_Site_p.K444_splice	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		GGAGGCGTCAAGGTACTAGTA	0.542000													13	37					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118674927	118674927	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:118674927G>A	ENST00000355371.4	-	13	1761	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	KIAA1598_ENST00000392903.2_Missense_Mutation_p.H422Y|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.H362Y|KIAA1598_ENST00000260777.10_Missense_Mutation_p.H422Y	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	422					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GGTCTAAGATGAACTCCCTTT	0.368000													34	52					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561088	44561088	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:44561088C>T	ENST00000332567.4	-	1	900	c.548G>A	c.(547-549)gGc>gAc	p.G183D	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	183					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCTCAGGGCCCTCGGGCAT	0.697000													61	4					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72128980	72128980	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:72128980A>G	ENST00000340726.3	-	14	1946	c.1307T>C	c.(1306-1308)tTc>tCc	p.F436S	EYA1_ENST00000303824.7_Missense_Mutation_p.F430S|EYA1_ENST00000419131.1_Missense_Mutation_p.F401S|EYA1_ENST00000388743.2_Missense_Mutation_p.F435S|EYA1_ENST00000388742.4_Missense_Mutation_p.F436S|EYA1_ENST00000388740.3_Missense_Mutation_p.F403S|EYA1_ENST00000388741.2_Missense_Mutation_p.F402S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	436					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTGTAGCGGAAGGCCAACTT	0.468000													20	59					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421145	105421145	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:105421145T>C	ENST00000264122.4	-	12	2073	c.1752A>G	c.(1750-1752)agA>agG	p.R584R	CBLB_ENST00000405772.1_Silent_p.R584R|CBLB_ENST00000403724.1_Silent_p.R584R|CBLB_ENST00000394027.3_Silent_p.R606R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	584	Pro-rich.		R -> K (in dbSNP:rs17853100).		cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGGCGGGTCTCTGGAAGGCA	0.542000			Mis S		AML								12	26					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914464	147914464	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:147914464G>A	ENST00000361727.3	+	19	3611	c.3095G>A	c.(3094-3096)aGa>aAa	p.R1032K	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R91K	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1032					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCAGCAGCAGAGTAGACAAC	0.532000										HNSCC(39;0.1)			45	53					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224493	172224493	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:172224493T>G	ENST00000241261.2	-	5	757	c.635A>C	c.(634-636)aAa>aCa	p.K212T	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	212					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACTTGTGTATTTGTAAATATA	0.333000													8	113					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225661686	225661686	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:225661686A>C	ENST00000409592.3	-	43	4917	c.4804T>G	c.(4804-4806)Tta>Gta	p.L1602V	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1608V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1608	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTACTTGTAAGTGGGACCGG	0.438000													10	117					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178412129	178412129	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:178412129C>T	ENST00000448150.3	+	8	2011	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	RASAL2_ENST00000462775.1_Missense_Mutation_p.P268L|RASAL2_ENST00000367649.3_Missense_Mutation_p.P416L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	268	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAGTGGTATCCAGTGAGTACA	0.418000													16	54					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645725	39645725	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39645725G>A	ENST00000265708.4	-	9	791	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F	ADAM2_ENST00000347580.4_Missense_Mutation_p.L211F|ADAM2_ENST00000521880.1_Missense_Mutation_p.L230F|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	230	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTATCCAAAGCTCCAATGAA	0.279000													11	51					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383782	31383782	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31383782C>T	ENST00000268296.4	+	18	2365	c.2244C>T	c.(2242-2244)aaC>aaT	p.N748N	ITGAX_ENST00000562522.1_Silent_p.N748N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	748					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTTCAGAAACCTGCGGCCTA	0.647000													41	19					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110119	33110119	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:33110119G>A	ENST00000267068.3	-	2	1210	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.P349L	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	349										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATTTCCAGAGGGATGAACACT	0.363000													38	24					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35860956	35860956	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35860956G>A	ENST00000303115.3	+	2	214	c.85G>A	c.(85-87)Gac>Aac	p.D29N	IL7R_ENST00000506850.1_Missense_Mutation_p.D29N|IL7R_ENST00000343305.4_Missense_Mutation_p.D29N|IL7R_ENST00000511982.1_Missense_Mutation_p.D29N|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	29					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.D29Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTCCCCAGGAGACTTGGAAGA	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						25	124					0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240981428	240981428	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:240981428G>A	ENST00000408934.1	-	1	971	c.972C>T	c.(970-972)gcC>gcT	p.A324A		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	324										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGGATGAAGAGGCATGGACGA	0.602000													43	41					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56462757	56462757	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56462757G>A	ENST00000370754.5	-	47	11882	c.11883C>T	c.(11881-11883)aaC>aaT	p.N3961N	DST_ENST00000312431.6_Silent_p.N3781N|DST_ENST00000446842.2_Silent_p.N3457N|DST_ENST00000370788.2_Silent_p.N1695N|DST_ENST00000421834.2_Silent_p.N1695N|DST_ENST00000370769.4_Silent_p.N3783N|DST_ENST00000361203.3_Silent_p.N3781N|DST_ENST00000244364.6_Silent_p.N1369N			Q03001	DYST_HUMAN	dystonin	3781					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTCCAAAAGGTTTTCTATTT	0.458000													14	34					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74458389	74458389	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74458389A>G	ENST00000394019.2	-	25	3218	c.2821T>C	c.(2821-2823)Tct>Cct	p.S941P	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.S941P|SLC4A5_ENST00000377632.1_Missense_Mutation_p.S941P|SLC4A5_ENST00000377634.4_Missense_Mutation_p.S941P|SLC4A5_ENST00000358683.4_Missense_Mutation_p.S839P|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.L881P|SLC4A5_ENST00000346834.4_Missense_Mutation_p.S941P|SLC4A5_ENST00000359484.4_Missense_Mutation_p.S839P	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	941						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAAGACAGAGATTCCCGTC	0.557000													6	63					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113039	57113039	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57113039A>G	ENST00000262510.6	+	44	5384	c.5159A>G	c.(5158-5160)gAg>gGg	p.E1720G	NLRC5_ENST00000539144.1_Missense_Mutation_p.E1691G|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1691G|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1720					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CATTTGGAAGAGATCAGGTAA	0.652000													4	77					0	0	1	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23934794	23934794	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:23934794A>G	ENST00000443659.2	-	4	1148	c.371T>C	c.(370-372)cTt>cCt	p.L124P	NKIRAS1_ENST00000415901.2_Missense_Mutation_p.L124P|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.L124P|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.L124P|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.L124P|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.L124P|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.L124P|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.L124P			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	124					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CTGCTCAGAAAGGTCGATTTT	0.438000													16	48					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117170978	117170978	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117170978T>G	ENST00000003084.6	+	4	431	c.299T>G	c.(298-300)cTc>cGc	p.L100R	CFTR_ENST00000454343.1_Missense_Mutation_p.L100R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	100	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTACAGCCTCTCTTACTGGGA	0.388000									Cystic Fibrosis				8	13					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204304836	204304836	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:204304836T>G	ENST00000319170.5	-	14	3376	c.3077A>C	c.(3076-3078)aAg>aCg	p.K1026T	RAPH1_ENST00000374493.3_Missense_Mutation_p.K1078T|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1026					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTCCAGGCTTGGGGGGTGC	0.552000													8	74					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767078	88767078	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88767078G>A	ENST00000497649.2	+	6	1364	c.986G>A	c.(985-987)aGa>aAa	p.R329K	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.R384K|MEPE_ENST00000560249.1_Missense_Mutation_p.R240K|MEPE_ENST00000361056.3_Missense_Mutation_p.R353K|MEPE_ENST00000424957.3_Missense_Mutation_p.R353K|MEPE_ENST00000540395.1_Missense_Mutation_p.R240K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	353					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CTCCCTGGAAGAGAAGGAAAC	0.478000													6	26					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154938918	154938918	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154938918G>T	ENST00000448116.2	-	8	1279	c.1059C>A	c.(1057-1059)ttC>ttA	p.F353L	SHC1_ENST00000368449.4_Missense_Mutation_p.F124L|SHC1_ENST00000368453.4_Missense_Mutation_p.F243L|SHC1_ENST00000606391.1_Missense_Mutation_p.F154L|SHC1_ENST00000368450.1_Missense_Mutation_p.F243L|SHC1_ENST00000368445.5_Missense_Mutation_p.F353L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	353	CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	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)			CCTTCCCCGGGAAGTCATTAT	0.607000													16	16					2.35188e-11	2.36486e-11	1	1	0
BTC	685	broad.mit.edu	37	4	75675848	75675848	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:75675848C>T	ENST00000395743.3	-	4	723	c.363G>A	c.(361-363)gtG>gtA	p.V121V		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	121					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCAAACAAATCACCAGAATCT	0.373000													76	53					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209796	139209796	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139209796G>A	ENST00000395297.1	-	8	956	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	262										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTCCCGCATGATCACCAGGA	0.622000										HNSCC(54;0.14)			29	23					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105876214	105876214	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105876214T>C	ENST00000372548.4	+	5	1250	c.1141T>C	c.(1141-1143)Tta>Cta	p.L381L	CXorf57_ENST00000372544.2_Silent_p.L381L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	381										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATTGGCCTTTTAGTTTTTGT	0.289000													30	25					0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46032600	46032600	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:46032600T>C	ENST00000323060.3	-	2	334	c.257A>G	c.(256-258)gAg>gGg	p.E86G		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	86					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GATGATGCCCTCGCCCAGCAG	0.627000													8	141					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116750725	116750725	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:116750725G>A	ENST00000288466.7	+	3	301	c.202G>A	c.(202-204)Gat>Aat	p.D68N	ZNF618_ENST00000374126.5_Missense_Mutation_p.D68N	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGAGCTGCCCGATGACTACAT	0.632000													9	30					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111845626	111845626	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111845626A>G	ENST00000440460.2	+	5	872	c.575A>G	c.(574-576)gAg>gGg	p.E192G	DIXDC1_ENST00000531396.1_Missense_Mutation_p.E192G|DIXDC1_ENST00000529225.1_Missense_Mutation_p.E191G|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	192	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GAGGAAATTGAGAATCCATAC	0.507000													3	8					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98548574	98548574	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:98548574C>T	ENST00000359863.4	+	38	5598	c.5389C>T	c.(5389-5391)Ccc>Tcc	p.P1797S	TRRAP_ENST00000355540.3_Missense_Mutation_p.P1779S|TRRAP_ENST00000446306.3_Missense_Mutation_p.P1778S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1797					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGGGACCTCCCAATCCAGA	0.438000													88	138					0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256664	12256664	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12256664T>C	ENST00000355738.1	-	4	718	c.369A>G	c.(367-369)ggA>ggG	p.G123G	ZNF625_ENST00000542938.1_Silent_p.G123G|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Silent_p.G189G			Q96I27	ZN625_HUMAN	zinc finger protein 625	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						ATTTGTAGGGTCCATCTCCAC	0.418000													23	88					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449172	91449172	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91449172C>T	ENST00000360468.3	+	4	651	c.633C>T	c.(631-633)ttC>ttT	p.F211F	MAN2A2_ENST00000559717.1_Silent_p.F211F	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	211					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGCGCTTCCTCTGGGCAG	0.572000													14	5					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	861901	861901	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:861901G>A	ENST00000381922.3	-	5	966	c.864C>T	c.(862-864)ttC>ttT	p.F288F	ANGPT4_ENST00000546022.1_Silent_p.F288F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	288	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						CACAGTCCTGGAACACCTGCT	0.572000													17	29					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512702	68512702	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:68512702C>T	ENST00000370981.1	-	4	915	c.279G>A	c.(277-279)aaG>aaA	p.K93K	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.K93K|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	93					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGTCGCCACTCTTGCTGTCGG	0.592000													93	118					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867518	107867518	+	Silent	SNP	G	G	A	rs142977353	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:107867518G>A	ENST00000370067.1	+	3	1488	c.861G>A	c.(859-861)gcG>gcA	p.A287A	NTNG1_ENST00000370074.4_Silent_p.A287A|NTNG1_ENST00000370073.2_Silent_p.A287A|NTNG1_ENST00000370061.3_Silent_p.A287A|NTNG1_ENST00000370071.2_Silent_p.A287A|NTNG1_ENST00000542803.1_Silent_p.A287A|NTNG1_ENST00000370066.1_Silent_p.A287A|NTNG1_ENST00000370072.3_Silent_p.A287A|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370068.1_Silent_p.A287A|NTNG1_ENST00000370070.2_Silent_p.A287A|NTNG1_ENST00000370065.1_Silent_p.A287A			Q9Y2I2	NTNG1_HUMAN	netrin G1	287	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A287A(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACTTTTACGCGATCTCAGACA	0.458000													54	40					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220422647	220422647	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220422647G>A	ENST00000404537.1	-	11	3744	c.3688C>T	c.(3688-3690)Ctc>Ttc	p.L1230F	OBSL1_ENST00000265318.4_Missense_Mutation_p.L1138F|OBSL1_ENST00000603926.1_Missense_Mutation_p.L1230F|OBSL1_ENST00000265317.5_Missense_Mutation_p.L221F|OBSL1_ENST00000373876.1_Missense_Mutation_p.L1230F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1230	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGATGCAGAGGACTCGGCGG	0.711000													5	29					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684205	75684205	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75684205G>A	ENST00000370855.5	-	17	1612	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L	SLC44A5_ENST00000535611.1_Missense_Mutation_p.P370L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P500L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	500						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGTAAAAAGTGGATATCGTGG	0.428000													42	181					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149841	34149841	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:34149841C>T	ENST00000346193.3	-	1	606	c.555G>A	c.(553-555)ggG>ggA	p.G185G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	185	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCAGAATTCCCCACAGGGAT	0.597000													42	1					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048308	105048308	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105048308A>G	ENST00000369849.4	+	3	1431	c.1382A>G	c.(1381-1383)aAg>aGg	p.K461R		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	461	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GTAGCCTCTAAGAAAACCTCC	0.418000													18	21					0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14139133	14139133	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14139133C>T	ENST00000431365.2	+	1	174	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RLN3_ENST00000585987.1_Silent_p.F39F	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	39						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GCCGAGAATTCATCCGAGCAG	0.657000													17	89					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163292089	163292089	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163292089G>A	ENST00000332142.5	-	8	1672	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	KCNH7_ENST00000328032.4_Missense_Mutation_p.L518F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	525					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTCTTCAAAAGACCAATTAAT	0.418000													10	21					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738915	12738915	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12738915A>G	ENST00000343325.4	+	4	734	c.572A>G	c.(571-573)aAg>aGg	p.K191R	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.K159R|ZNF791_ENST00000540038.1_Missense_Mutation_p.K82R|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TATGAATGTAAGCAATGTGGA	0.398000													13	43					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77919711	77919711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77919711G>A	ENST00000553888.1	-	3	637	c.127C>T	c.(127-129)Cga>Tga	p.R43*	VIPAS39_ENST00000557658.1_Nonsense_Mutation_p.R43*|VIPAS39_ENST00000556412.1_Nonsense_Mutation_p.R69*|VIPAS39_ENST00000448935.2_Nonsense_Mutation_p.R43*|VIPAS39_ENST00000343765.2_Nonsense_Mutation_p.R43*|VIPAS39_ENST00000327028.4_Nonsense_Mutation_p.R43*	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		ACGAAGTCTCGGAGGCTGTTC	0.532000													205	219					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138313035	138313035	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138313035C>T	ENST00000421622.1	-	7	785	c.577G>A	c.(577-579)Ggt>Agt	p.G193S	SVOPL_ENST00000288513.5_Missense_Mutation_p.G161S|SVOPL_ENST00000436657.1_Missense_Mutation_p.G161S|SVOPL_ENST00000419765.3_Missense_Mutation_p.G313S			Q8N434	SVOPL_HUMAN	SVOP-like	313						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GACTTTGAACCACAGACCAAG	0.557000													25	23					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000803	11000803	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:11000803G>T	ENST00000324288.8	+	11	1587	c.1454G>T	c.(1453-1455)aGc>aTc	p.S485I	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	485	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGGTTTTCAGCCACATCTTG	0.617000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								61	70					5.82218e-30	5.87933e-30	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5410823	5410823	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5410823G>A	ENST00000399537.4	-	11	3750	c.3402C>T	c.(3400-3402)cgC>cgT	p.R1134R	TNRC18_ENST00000430969.1_Silent_p.R1134R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1134	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGGGGACAAGCGGATGGGCT	0.701000													19	17					0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205416	100205416	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100205416C>T	ENST00000223061.5	+	8	1449	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	390	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)					AAGCAGTGCCCCCCCATGAAG	0.507000													34	47					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806934	143806934	+	Nonsense_Mutation	SNP	C	C	T	rs61734798		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143806934C>T	ENST00000408979.2	+	1	328	c.259C>T	c.(259-261)Cag>Tag	p.Q87*		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTAATGAACCAGAAAAGAAC	0.428000													86	127					0	0	1	0	0
BET1L	51272	broad.mit.edu	37	11	205491	205491	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:205491G>A	ENST00000325147.9	-	3	348	c.288C>T	c.(286-288)atC>atT	p.I96I	BET1L_ENST00000529614.2_Intron|BET1L_ENST00000486280.1_Intron|BET1L_ENST00000332865.6_Intron|BET1L_ENST00000382762.3_Intron|BET1L_ENST00000410108.1_Intron			Q9NYM9	BET1L_HUMAN	Bet1 golgi vesicular membrane trafficking protein-like	0					protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity						all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCCAGCAAGATCACACAGA	0.557000													22	11					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901482	150901482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150901482G>A	ENST00000261800.5	-	18	10684	c.10672C>T	c.(10672-10674)Cga>Tga	p.R3558*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3558	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGGTCTCGGTCTGTGGCA	0.582000													12	17					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611808	44611808	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44611808C>T	ENST00000336976.6	+	6	1749	c.1495C>T	c.(1495-1497)Ctt>Ttt	p.L499F	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	499					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)				AAATTCACATCTTCATTCCCA	0.408000													25	62					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88376767	88376767	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:88376767G>C	ENST00000392844.3	+	20	2110	c.2062G>C	c.(2062-2064)Gaa>Caa	p.E688Q	ORC3_ENST00000546266.1_Missense_Mutation_p.E545Q|ORC3_ENST00000257789.4_Missense_Mutation_p.E689Q	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	688					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTCTGAACTAGAACTTTTAGG	0.388000													8	22					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039296	11039296	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:11039296G>A	ENST00000470054.1	-	0	907									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTGTGTAACGACTTCAATGT	0.388000													17	179					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101758	81101758	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81101758G>A	ENST00000228641.3	+	1	482	c.260G>A	c.(259-261)aGa>aAa	p.R87K		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	87					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACCTGCAAGAGAAAATCTGCC	0.622000													30	3					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48503748	48503748	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48503748C>T	ENST00000427954.2	+	1	169	c.126C>T	c.(124-126)ctC>ctT	p.L42L	ACSF2_ENST00000504392.1_Silent_p.L42L|ACSF2_ENST00000300441.4_Silent_p.L42L|ACSF2_ENST00000541920.1_5'UTR|ACSF2_ENST00000502667.1_Silent_p.L42L			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	42					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCGCTTCCTCAGGTACTGGC	0.721000													10	2					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32487516	32487516	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:32487516T>C	ENST00000379882.1	-	8	1350	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	DDX58_ENST00000542096.1_Missense_Mutation_p.K372R|DDX58_ENST00000379868.1_Missense_Mutation_p.K240R|DDX58_ENST00000379883.2_Missense_Mutation_p.K443R|DDX58_ENST00000545044.1_Missense_Mutation_p.K240R			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	443	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CAGATTGTGTTTGACTGTTGC	0.448000													6	66					0	0	1	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111158	22111158	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22111158G>A	ENST00000390423.2	+	0	50																											CAGGAACTGGGAATGCAGTGC	0.478000													5	20					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940093	31940093	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31940093G>A	ENST00000375331.2	+	2	401	c.235G>A	c.(235-237)Gag>Aag	p.E79K	STK19_ENST00000375333.2_Missense_Mutation_p.E79K	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	79						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GACGCCCGGGGAGACCGTACG	0.602000													33	46					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651456	135651456	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135651456C>T	ENST00000513104.1	-	3	1074	c.792G>A	c.(790-792)agG>agA	p.R264R	TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	264					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGATAACTTCCTGTAATCGT	0.483000													6	5					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907460	12907460	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12907460G>A	ENST00000317869.6	-	2	908	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTTCTTCATGGAGCTACTGCT	0.458000													95	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466414	179466414	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179466414T>A	ENST00000589042.1	-	286	55627	c.55403A>T	c.(55402-55404)aAg>aTg	p.K18468M	TTN_ENST00000342175.6_Missense_Mutation_p.K9595M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K9403M|TTN_ENST00000359218.5_Missense_Mutation_p.K9528M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K16827M|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K15900M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16827	Ig-like 106.						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)			ATTTGCAGTCTTTTGTCCTGC	0.358000													16	42					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62334927	62334927	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62334927T>C	ENST00000378019.3	-	6	836	c.746A>G	c.(745-747)cAg>cGg	p.Q249R	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.Q199R			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	199					response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGCCCGGAACTGGGGCTGGTT	0.542000													4	14					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172052739	172052739	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:172052739T>A	ENST00000336824.4	+	15	1746	c.1647T>A	c.(1645-1647)acT>acA	p.T549T	FNDC3B_ENST00000416957.1_Silent_p.T549T|FNDC3B_ENST00000415807.2_Silent_p.T549T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	549	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCTAGCTGACTGCTTCTAATA	0.438000													25	234					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56468852	56468852	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56468852T>G	ENST00000370754.5	-	39	10474	c.10475A>C	c.(10474-10476)aAg>aCg	p.K3492T	DST_ENST00000312431.6_Missense_Mutation_p.K3314T|DST_ENST00000446842.2_Missense_Mutation_p.K2988T|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.K3314T|DST_ENST00000361203.3_Missense_Mutation_p.K3314T|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	3314					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATATGTGGCTTTTCTTCCAT	0.333000													4	3					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186948	61186948	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:61186948G>A	ENST00000216513.4	-	2	1138	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	360						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAAGACAGGTGAAGTACTTGC	0.398000													24	31					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169866895	169866895	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169866895T>G	ENST00000494943.1	-	5	584	c.516A>C	c.(514-516)caA>caC	p.Q172H	PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.1_Missense_Mutation_p.Q184H|PHC3_ENST00000474275.1_Missense_Mutation_p.Q168H			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	172	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GGAGATACATTTGAGCTTGGC	0.418000													8	31					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115858560	115858560	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:115858560A>T	ENST00000264363.2	-	5	1999	c.1321T>A	c.(1321-1323)Tgg>Agg	p.W441R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	441	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGAATACCCCAGACCTTCTTC	0.498000													47	14					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	G	A	rs142762485		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:189612073G>A	ENST00000264731.3	+	14	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Missense_Mutation_p.E605K|TP63_ENST00000382063.4_Missense_Mutation_p.E524K|TP63_ENST00000354600.5_Missense_Mutation_p.E515K|TP63_ENST00000449992.1_Missense_Mutation_p.E430K|TP63_ENST00000456148.1_Missense_Mutation_p.E511K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	609					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E609K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)			50	121					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629991	1629991	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:1629991C>T	ENST00000381580.1	-	2	217	c.38G>A	c.(37-39)gGa>gAa	p.G13E	SIRPG_ENST00000381583.2_Missense_Mutation_p.G46E|SIRPG_ENST00000216927.4_Missense_Mutation_p.G46E|SIRPG_ENST00000303415.3_Missense_Mutation_p.G46E|SIRPG_ENST00000344103.4_Missense_Mutation_p.G46E			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	46					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCTGTCTTTCCAACTGTGAC	0.512000													21	38					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924380	70924380	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70924380C>G	ENST00000603540.1	+	2	422	c.164C>G	c.(163-165)gCa>gGa	p.A55G	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.A55G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	55					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGCAGAAGTGCAAAGGCTCCT	0.527000													27	150					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208058	140208058	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140208058G>A	ENST00000529310.1	+	1	496	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D128N|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATTAACGACAACCCGCC	0.587000													51	74					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496542	152496542	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152496542T>C	ENST00000397345.3	-	62	8920	c.8718A>G	c.(8716-8718)agA>agG	p.R2906R	NEB_ENST00000603639.1_Silent_p.R2906R|NEB_ENST00000172853.10_Silent_p.R2906R|NEB_ENST00000604864.1_Silent_p.R2906R|NEB_ENST00000427231.2_Silent_p.R2906R|NEB_ENST00000409198.1_Silent_p.R2906R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2906					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCCAATGCCTCTCATCCACT	0.398000													4	117					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	41002292	41002292	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41002292A>C	ENST00000253799.3	+	4	2225	c.2198A>C	c.(2197-2199)aAt>aCt	p.N733T	AOC2_ENST00000452774.2_Missense_Mutation_p.N706T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	733					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGCAGCATCAATCCTGTGGCC	0.597000													55	182					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245027	46245027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:46245027C>T	ENST00000334344.6	+	15	3293	c.3121C>T	c.(3121-3123)Caa>Taa	p.Q1041*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q651*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q892*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1041	Gln-rich.				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)		GATGCAAGTTCAACCTCAACA	0.512000			"""N, S, F"""		hepatocellular carcinoma								37	169					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046836	73046836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:73046836C>T	ENST00000261180.4	+	17	2845	c.2749C>T	c.(2749-2751)Caa>Taa	p.Q917*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	917					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.Q917*(1)		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						GGTGCTGGATCAAGATGCAAT	0.343000													11	19					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145969704	145969704	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:145969704C>T	ENST00000394413.3	-	9	1708	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E369K|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E446K|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E438K|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E386K|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E380K|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E380K|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E380K|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E369K|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E383K			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	380					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTGTTTTCCCTCGAAGCC	0.522000													21	27					0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52867645	52867645	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52867645T>C	ENST00000504329.1	-	9	1111	c.1000A>G	c.(1000-1002)Atg>Gtg	p.M334V	MUSTN1_ENST00000446157.2_Missense_Mutation_p.M44V|MUSTN1_ENST00000486659.1_Missense_Mutation_p.M49V	NM_001198974.2	NP_001185903.2																					CACTCTCGCATGACCTGGTAG	0.577000													7	11					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20874556	20874556	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20874556G>A	ENST00000262715.5	-	3	611	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	TEP1_ENST00000556935.1_Missense_Mutation_p.R191C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	191					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCAAACCAACGACCCTGGGGT	0.527000													24	69					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957002	33957002	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33957002A>C	ENST00000361328.3	+	6	1297	c.1144A>C	c.(1144-1146)Aac>Cac	p.N382H	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.N328H	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	382					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TAGGGTCAAAAACCTCCTACG	0.582000													21	191					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294300	110294300	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110294300C>T	ENST00000369805.3	-	16	1771	c.1542G>A	c.(1540-1542)ggG>ggA	p.G514G	EPS8L3_ENST00000361852.4_Silent_p.G483G|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.G513G	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	513						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGCCCTGGGTCCCAGGGGTCC	0.627000													41	51					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515920	41515920	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41515920G>A	ENST00000324071.4	+	6	851	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	282					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCACACAGTGAATTCAGCCA	0.577000													28	32					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618279	37618279	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37618279C>T	ENST00000399151.3	+	19	4086	c.4001C>T	c.(4000-4002)tCg>tTg	p.S1334L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1334					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGAAGGTCTCGCACCGAGAC	0.562000													84	90					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75311162	75311162	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75311162T>C	ENST00000361900.6	+	8	753	c.546T>C	c.(544-546)agT>agC	p.S182S	SCAMP5_ENST00000562212.1_Silent_p.S190S|SCAMP5_ENST00000425597.3_Silent_p.S182S|SCAMP5_ENST00000545456.1_Silent_p.S111S|SCAMP5_ENST00000568081.1_Silent_p.S115S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	182					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GTGGGGGGAGTTTCAGCAAAG	0.537000													11	20					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95124505	95124505	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:95124505T>G	ENST00000379982.3	+	11	2171	c.1663T>G	c.(1663-1665)Ttc>Gtc	p.F555V	RHOBTB3_ENST00000504179.1_Missense_Mutation_p.F186V|GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	555	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTACTTCATTTCATTGCTAC	0.348000													17	24					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91485796	91485796	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91485796A>T	ENST00000394275.2	+	10	1607	c.772A>T	c.(772-774)Aaa>Taa	p.K258*	UNC45A_ENST00000418476.2_Nonsense_Mutation_p.K273*|UNC45A_ENST00000553671.2_Intron	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	273					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAAGGTGTCAAAAAAGGCTT	0.562000													16	33					0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42848679	42848679	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42848679A>T	ENST00000493763.1	+	2	398	c.95A>T	c.(94-96)aAg>aTg	p.K32M	RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000602561.1_Missense_Mutation_p.K32M|RPL7L1_ENST00000424341.2_Missense_Mutation_p.K32M|RPL7L1_ENST00000304734.5_Missense_Mutation_p.K32M	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	32					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			ACCCAGGCAAAGCAGGCACTT	0.418000													6	35					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36004040	36004040	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36004040A>C	ENST00000339686.3	-	1	514	c.338T>G	c.(337-339)aTt>aGt	p.I113S	DMKN_ENST00000451297.2_Missense_Mutation_p.I113S|DMKN_ENST00000429837.1_Missense_Mutation_p.I113S|DMKN_ENST00000424570.2_Missense_Mutation_p.I113S|DMKN_ENST00000418261.1_Missense_Mutation_p.I113S|DMKN_ENST00000419602.1_Missense_Mutation_p.I113S|DMKN_ENST00000440396.1_Missense_Mutation_p.I113S|DMKN_ENST00000447113.2_Missense_Mutation_p.I113S	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	113	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGTCTGCCAATCTCGTGCCC	0.612000													17	51					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35402013	35402013	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:35402013T>C	ENST00000453357.2	+	1	104	c.48T>C	c.(46-48)acT>acC	p.T16T	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGCTGGGACTTCCGGGTTCC	0.428000													18	58					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122292607	122292607	+	Splice_Site	SNP	A	A	G	rs113807474		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122292607A>G	ENST00000543163.1	-	8	743		c.e8+1		HPD_ENST00000289004.4_Splice_Site	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	AAGGGAACTCACCGTCTGCAG	0.602000													29	62					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434594	121434594	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:121434594A>G	ENST00000402929.1	+	6	1493	c.1358A>G	c.(1357-1359)cAa>cGa	p.Q453R	HNF1A_ENST00000541395.1_Intron|HNF1A_ENST00000544413.1_Intron|HNF1A_ENST00000543427.1_Missense_Mutation_p.Q336R|HNF1A_ENST00000400024.2_Intron|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000257555.6_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	289					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCATGGGGCAACCGCAGAAT	0.567000									Hepatic Adenoma, Familial Clustering of				3	3					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797106	42797106	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42797106T>G	ENST00000314073.5	+	6	1211	c.1035T>G	c.(1033-1035)gcT>gcG	p.A345A	GLTSCR1L_ENST00000394168.1_Silent_p.A345A					GLTSCR1-like																		TCTCTTTTGCTTCTGCAAGCT	0.458000													21	194					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121591617	121591617	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121591617C>T	ENST00000273668.2	+	5	789	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	EAF2_ENST00000451944.2_Missense_Mutation_p.L240F	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	240	Necessary for transactivation activity.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAACAGTGGCCTTCTGATGAA	0.363000													29	27					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30134986	30134986	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30134986A>C	ENST00000376694.4	+	2	884	c.415A>C	c.(415-417)Acg>Ccg	p.T139P	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	139					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGCTCTGAGCACGGAGAGAGA	0.458000													19	24					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33629236	33629236	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:33629236G>A	ENST00000380099.3	+	3	1391	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.M154I	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	461	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGTCCCTCATGGATGGTTTCG	0.527000													34	68					0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41399594	41399594	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:41399594C>T	ENST00000276533.3	+	8	870	c.660C>T	c.(658-660)gtC>gtT	p.V220V	RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000523277.2_3'UTR|RP11-360L9.7_ENST00000578500.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA|GINS4_ENST00000518671.1_Silent_p.V220V	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	220	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTGGAGCTGTCCAGCTAATTT	0.512000													29	42					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370401	25370401	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25370401C>T	ENST00000255324.5	+	11	1419	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	RNF17_ENST00000255325.5_Missense_Mutation_p.S457L|RNF17_ENST00000381921.1_Missense_Mutation_p.S456L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	456					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATAGGAGTTCACACCTTGAT	0.323000													39	30					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64655412	64655412	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64655412G>A	ENST00000357395.3	+	99	18156	c.7012G>A	c.(7012-7014)Gaa>Aaa	p.E2338K	SYNE2_ENST00000555002.1_Missense_Mutation_p.E2587K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E5766K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2338K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5953K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E5953K|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5953					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)		AGAAATGATTGAAAAGTTACA	0.438000													10	37					0	0	1	0	0
GRAMD3	65983	broad.mit.edu	37	5	125816168	125816168	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:125816168C>T	ENST00000285689.3	+	7	1064	c.603C>T	c.(601-603)ctC>ctT	p.L201L	GRAMD3_ENST00000511134.1_Silent_p.L185L|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000502348.1_Silent_p.L92L|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Silent_p.L97L|GRAMD3_ENST00000542322.1_Silent_p.L209L|GRAMD3_ENST00000543198.1_Silent_p.L178L|GRAMD3_ENST00000515200.1_Silent_p.L178L|GRAMD3_ENST00000513040.1_Silent_p.L216L	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	201										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TCTCCTTACTCTCCAGAGATT	0.363000													5	11					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110682671	110682671	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110682671A>C	ENST00000394634.2	-	4	866		c.e4+1		CFI_ENST00000512148.1_Splice_Site|CFI_ENST00000394635.3_Splice_Site	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I						complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TACTCCACCAACCTGCTTTCT	0.403000													20	67					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614810	7614810	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7614810C>T	ENST00000221249.6	+	17	1940	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Silent_p.F503F|PNPLA6_ENST00000414982.3_Silent_p.F551F|PNPLA6_ENST00000545201.2_Silent_p.F477F|PNPLA6_ENST00000600737.1_Silent_p.F542F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	542					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCACTTCGTGCTCTGGG	0.632000													15	54					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130578255	130578255	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130578255T>C	ENST00000344849.3	-	14	2099	c.1819A>G	c.(1819-1821)Act>Gct	p.T607A	ENG_ENST00000373203.4_Missense_Mutation_p.T607A			P17813	EGLN_HUMAN	endoglin	607					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						AGTGCAGCAGTGAGCAGGGCC	0.652000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				5	17					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925618	45925618	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45925618C>T	ENST00000395629.2	+	7	1872	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	MAPK8IP1_ENST00000241014.2_Silent_p.Y524Y			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	524	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CTGAAGACTACTGGTACGAGG	0.582000													47	58					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461979	4461979	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4461979C>T	ENST00000301395.3	-	3	776	c.717G>A	c.(715-717)ggG>ggA	p.G239G	GGT6_ENST00000381550.3_Silent_p.G277G|GGT6_ENST00000574154.1_Silent_p.G271G|GGT6_ENST00000573591.1_Silent_p.G123G	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	271					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GTAGAGCATCCCCAGCAAGGT	0.672000													14	0					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5975406	5975406	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:5975406G>A	ENST00000531445.1	-	4	1856	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	C4orf50_ENST00000324058.5_Silent_p.L130L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	130										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCCGGAGCCAGGAAGGTGGCC	0.637000													90	10					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233651924	233651924	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233651924A>C	ENST00000373566.3	+	10	860	c.663A>C	c.(661-663)tcA>tcC	p.S221S	GIGYF2_ENST00000409480.1_Silent_p.S221S|GIGYF2_ENST00000409451.3_Silent_p.S221S|GIGYF2_ENST00000373563.4_Silent_p.S199S|GIGYF2_ENST00000409547.1_Silent_p.S199S|GIGYF2_ENST00000409196.3_Silent_p.S199S|GIGYF2_ENST00000452341.2_Silent_p.S30S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	199	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTATACGCTCAGAAAGTGAAA	0.428000													5	49					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320002	31320002	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31320002T>G	ENST00000269197.5	+	11	2634	c.2634T>G	c.(2632-2634)ccT>ccG	p.P878P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGTGTTACCTTCACCATTGG	0.373000													13	14					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47845030	47845030	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47845030A>C	ENST00000595464.1	+	2	1192	c.974A>C	c.(973-975)aAa>aCa	p.K325T	C5AR2_ENST00000257267.2_Missense_Mutation_p.K325T|C5AR2_ENST00000600626.1_Missense_Mutation_p.K325T	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GACAGCAAGAAATCCACCAGC	0.562000													19	48					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103841347	103841347	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103841347T>G	ENST00000297431.4	-	3	367	c.225A>C	c.(223-225)caA>caC	p.Q75H	ORC5_ENST00000447452.2_Missense_Mutation_p.Q75H|ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000485726.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	75					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGTTTAAAATTTGTTCCAAAA	0.333000													4	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404292	179404292	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179404292C>T	ENST00000589042.1	-	352	98724	c.98500G>A	c.(98500-98502)Gag>Aag	p.E32834K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23961K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23769K|TTN_ENST00000359218.5_Missense_Mutation_p.E23894K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31193K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30266K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31193							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E23894*(1)|p.E30264*(1)|p.E30266*(1)|p.E23769*(1)|p.E23961*(1)		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)			TCTCGTCTCTCGAGGATGTAG	0.507000													99	57					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23198683	23198683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23198683G>A	ENST00000389131.3	-	4	934	c.565C>T	c.(565-567)Cga>Tga	p.R189*	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	189	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGGATGGCTCGAATCCGAATG	0.572000													40	48					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30622514	30622514	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30622514A>G	ENST00000376442.3	-	19	3161	c.2966T>C	c.(2965-2967)cTt>cCt	p.L989P	DHX16_ENST00000376437.5_Missense_Mutation_p.L508P	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	989					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGTCAAGACAAGTTCGTGGTA	0.532000													4	102					0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18462387	18462387	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:18462387T>C	ENST00000377603.4	+	8	1186	c.806T>C	c.(805-807)cTg>cCg	p.L269P	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	269				AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|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|protein binding			breast(2)	2						CACATGAAACTGTACAGGGCA	0.473000													52	273					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73055604	73055604	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:73055604T>G	ENST00000335350.6	+	14	2628	c.2212T>G	c.(2212-2214)Ttg>Gtg	p.L738V	UNC5B_ENST00000373192.4_Missense_Mutation_p.L727V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	738					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGGCGGATACTTGGTGGAGGA	0.617000													9	20					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483333	20483333	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20483333G>A	ENST00000305045.2	-	1	19	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACACCAAGGAATAGTTCTG	0.378000													30	15					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74889754	74889754	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:74889754C>T	ENST00000241436.4	+	12	1580	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.R380C	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	470					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTAAAAACTCGTGCATCTAC	0.318000								DNA polymerases (catalytic subunits)					15	12					0	0	1	0	0
NUBP2	10101	broad.mit.edu	37	16	1836547	1836547	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1836547A>C	ENST00000262302.9	+	2	146	c.26A>C	c.(25-27)aAc>aCc	p.N9T	NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000565134.1_Missense_Mutation_p.N9T|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000568706.1_5'UTR	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	9						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAGCCTGGAAACCTGGCCGGC	0.642000													15	64					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34145400	34145400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:34145400C>T	ENST00000257829.3	+	10	1212	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Nonsense_Mutation_p.Q264*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	336						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TCTGCAATATCAGGTAGGAAA	0.448000													23	26					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967671	4967671	+	Silent	SNP	G	G	A	rs147755934		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4967671G>A	ENST00000380373.2	-	1	685	c.660C>T	c.(658-660)acC>acT	p.T220T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGGATCAGGGTGTAAGACA	0.423000													4	45					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6505809	6505809	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6505809G>A	ENST00000377828.1	+	7	1446	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	426					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCACGATTGGGAAGcccacac	0.687000													8	2					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3656630	3656630	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3656630T>G	ENST00000294008.3	-	3	1245	c.605A>C	c.(604-606)aAa>aCa	p.K202T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	202	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGTGCGGGGTTTGGAGGGACT	0.542000								Direct reversal of damage					13	149					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43412925	43412925	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43412925T>G	ENST00000244533.3	+	12	3178	c.2819T>G	c.(2818-2820)cTc>cGc	p.L940R	ABCC10_ENST00000372530.4_Missense_Mutation_p.L968R	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	968	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGTTTCTACCTCACCGTGTAT	0.572000													15	84					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807250	143807250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143807250G>A	ENST00000408979.2	+	1	644	c.575G>A	c.(574-576)tGg>tAg	p.W192*		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W192L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCTGACACCTGGGTTAACCAA	0.517000													80	96					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300629	158300629	+	Silent	SNP	G	G	A	rs150676728		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158300629G>A	ENST00000368168.3	-	2	392	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	95					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTTCTCGAGCGAATCCAAAGA	0.443000													156	202					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37247321	37247321	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:37247321T>C	ENST00000373491.3	+	3	501	c.355T>C	c.(355-357)Tcg>Ccg	p.S119P		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	119						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GTCAACGACATCGGACGTCCC	0.502000													17	58					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45883615	45883615	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45883615C>T	ENST00000443527.2	+	5	742	c.720C>T	c.(718-720)ttC>ttT	p.F240F	CRY2_ENST00000417225.2_Silent_p.F158F|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	219	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CTTCAGGGTTCCCCACTGAAG	0.517000													10	8					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241964494	241964494	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:241964494T>G	ENST00000366552.2	+	27	3430	c.3223T>G	c.(3223-3225)Ttc>Gtc	p.F1075V	WDR64_ENST00000437684.2_Missense_Mutation_p.F908V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1075										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GGCTTCTTCCTTCTTCCCAGC	0.388000													16	53					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265891	39265891	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39265891A>T	ENST00000280481.7	+	1	4626	c.4410A>T	c.(4408-4410)gaA>gaT	p.E1470D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1470					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)		GTCACCTGGAATGCACGGATC	0.468000													32	34					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428576	64428576	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64428576A>C	ENST00000265459.6	-	10	2295	c.1834T>G	c.(1834-1836)Ttg>Gtg	p.L612V	NRXN2_ENST00000409571.1_Missense_Mutation_p.L605V|NRXN2_ENST00000377551.1_Missense_Mutation_p.L612V|NRXN2_ENST00000377559.3_Missense_Mutation_p.L581V|NRXN2_ENST00000496291.1_5'UTR	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	612	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGTGGCCAAGAACGGCGTG	0.617000													10	39					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39555014	39555014	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39555014A>C	ENST00000537403.1	-	3	1376	c.174T>G	c.(172-174)ccT>ccG	p.P58P	SEC23A_ENST00000545328.2_Silent_p.P231P|SEC23A_ENST00000536508.1_Silent_p.P134P|SEC23A_ENST00000307712.6_Silent_p.P260P			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	260					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGGAACGCAAAGGTCTCTTTC	0.468000													27	89					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171483	207171483	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207171483A>C	ENST00000374423.3	+	5	2617	c.2231A>C	c.(2230-2232)gAt>gCt	p.D744A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	744							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAGCTATGATTGCTCCAGC	0.428000													10	170					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355623	10355623	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10355623C>T	ENST00000255381.2	-	27	3483	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1125					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						GCCTCGATTTCCTCCTCCAGC	0.542000													24	59					0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	5966149	5966149	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5966149C>T	ENST00000405415.1	-	20	2849	c.2463G>A	c.(2461-2463)gaG>gaA	p.E821E	RSPH10B_ENST00000441023.2_Silent_p.E821E|RSPH10B_ENST00000337579.3_Silent_p.E821E|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Silent_p.E821E			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	821										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GTCTCTTGGCCTCTTCCTCTC	0.483000													21	55					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491440	151491440	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151491440C>T	ENST00000271636.7	+	2	578	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	143	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGTGGATCCTAGTAACAG	0.582000													31	34					0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11895777	11895777	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:11895777G>T	ENST00000322748.3	-	4	974	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	ZNF18_ENST00000454073.3_Missense_Mutation_p.Q124K|ZNF18_ENST00000580306.1_Missense_Mutation_p.Q124K|ZNF18_ENST00000580613.1_Missense_Mutation_p.Q73K	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	124					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CACAGTCTCTGGGGGTCCCCC	0.537000													5	76					1.024e-07	1.02771e-07	1	1	0
LUZP1	7798	broad.mit.edu	37	1	23418946	23418946	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23418946C>T	ENST00000302291.4	-	4	2610	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	LUZP1_ENST00000374623.3_Silent_p.S603S|LUZP1_ENST00000418342.1_Silent_p.S603S|LUZP1_ENST00000314174.5_Silent_p.S603S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	603						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AAGGATACTTCGATAGAACAG	0.468000													70	63					0	0	1	0	0
ID1	3397	broad.mit.edu	37	20	30193458	30193458	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30193458A>G	ENST00000376105.3	+	1	367	c.268A>G	c.(268-270)Agc>Ggc	p.S90G	ID1_ENST00000376112.3_Missense_Mutation_p.S90G	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	90	Helix-loop-helix motif.				angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCGCAAGGTGAGCAAGGTGGA	0.597000													5	14					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132534888	132534888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:132534888G>A	ENST00000265342.7	-	16	2677	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	810						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGACTCTCGGGCTGGTGTG	0.587000													10	10					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56184283	56184283	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:56184283C>T	ENST00000361673.3	-	9	6010	c.5797G>A	c.(5797-5799)Gcc>Acc	p.A1933T		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1933	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGCGGAAGGCTTTGCGGTGA	0.562000													38	4					0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957797	152957797	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152957797G>A	ENST00000307122.2	+	2	155	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SPRR1A_ENST00000368762.1_Missense_Mutation_p.E31K	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	31	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACCCCAGGAACCATGCAT	0.612000													63	77					0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959238	8959238	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8959238C>T	ENST00000325884.1	-	2	530	c.471G>A	c.(469-471)aaG>aaA	p.K157K	ASCL3_ENST00000531618.1_Silent_p.K157K	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	156					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CAGGGTTATTCTTGGTCTCAG	0.438000													35	104					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641538	36641538	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36641538T>C	ENST00000373448.2	-	3	919	c.681A>G	c.(679-681)caA>caG	p.Q227Q	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.Q227Q|TTI1_ENST00000449821.1_Silent_p.Q227Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	227							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGCTGTGACCTTGTTTAAAGT	0.418000													21	107					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41608633	41608633	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:41608633T>C	ENST00000402904.2	-	6	667	c.299A>G	c.(298-300)gAc>gGc	p.D100G	SCMH1_ENST00000372596.1_Missense_Mutation_p.D39G|SCMH1_ENST00000397171.2_Missense_Mutation_p.D39G|SCMH1_ENST00000397174.2_Missense_Mutation_p.D80G|SCMH1_ENST00000361705.3_Missense_Mutation_p.D53G|SCMH1_ENST00000372597.1_Missense_Mutation_p.D53G|SCMH1_ENST00000361191.5_Missense_Mutation_p.D39G|SCMH1_ENST00000372595.1_Missense_Mutation_p.D39G|SCMH1_ENST00000337495.5_Missense_Mutation_p.D110G|SCMH1_ENST00000326197.7_Missense_Mutation_p.D100G|SCMH1_ENST00000456518.2_Missense_Mutation_p.D53G	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	100					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCGCCAGAAGTCATTTTTGTT	0.532000													8	152					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17403476	17403476	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17403476C>T	ENST00000247706.3	-	5	1553	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	MRPL34_ENST00000595444.1_Silent_p.F9F|MRPL34_ENST00000600434.1_5'UTR	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	438							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCGGCTACTTCTTGTCTTCTG	0.692000													13	15					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131880121	131880121	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131880121C>T	ENST00000286355.5	-	9	4273	c.2181G>A	c.(2179-2181)acG>acA	p.T727T	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	727					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGTATTGCCGTGATAAATA	0.353000										HNSCC(32;0.087)			13	34					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55980310	55980310	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:55980310C>T	ENST00000263923.4	-	6	1076	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	261	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAAGGGTATTCCCAGTTGAAG	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			72	44					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185165608	185165608	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185165608A>C	ENST00000265026.3	+	5	1217	c.883A>C	c.(883-885)Att>Ctt	p.I295L	MAP3K13_ENST00000446828.1_Missense_Mutation_p.I88L|MAP3K13_ENST00000443863.1_Missense_Mutation_p.I151L|MAP3K13_ENST00000424227.1_Missense_Mutation_p.I295L|MAP3K13_ENST00000535426.1_Missense_Mutation_p.I151L	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	295	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGCGGTAAAAATTTCAGATTT	0.388000													16	86					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49051255	49051255	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49051255C>T	ENST00000395474.3	+	2	2658	c.2378C>T	c.(2377-2379)tCa>tTa	p.S793L	WDR6_ENST00000448293.1_Missense_Mutation_p.S712L|WDR6_ENST00000415265.2_Missense_Mutation_p.S211L	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	763					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGCTCAGCCCACGCA	0.577000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	14					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3761494	3761494	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3761494A>T	ENST00000378230.3	-	6	867	c.543T>A	c.(541-543)ccT>ccA	p.P181P	CEP104_ENST00000378223.3_Silent_p.P181P	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	181						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTTCTAGAGCAGGGTCCTCGC	0.488000													5	78					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203329679	203329679	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:203329679G>A	ENST00000374580.4	+	2	763	c.224G>A	c.(223-225)gGg>gAg	p.G75E	BMPR2_ENST00000374574.2_Missense_Mutation_p.G75E|BMPR2_ENST00000479069.1_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	75					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAATCAAAAGGGGACATAAAT	0.378000													22	75					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814738	128814738	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:128814738T>G	ENST00000270861.5	+	12	2667	c.2393T>G	c.(2392-2394)tTt>tGt	p.F798C	PLK4_ENST00000513090.1_Missense_Mutation_p.F766C|PLK4_ENST00000507249.1_Missense_Mutation_p.F737C|PLK4_ENST00000515069.1_Missense_Mutation_p.F720C|PLK4_ENST00000514379.1_Missense_Mutation_p.F757C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	798					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGTGCTCCCTTTTTCCCAATA	0.303000													5	24					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39604026C>T	ENST00000265708.4	-	19	2242	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000379853.2_Silent_p.R557R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000													36	31					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942625	11942625	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11942625C>T	ENST00000304060.5	+	4	798	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATTCCATTGTCTCAGATTATA	0.368000													56	56					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826343	65826343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65826343C>T	ENST00000528302.1	+	9	1012	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	SF3B2_ENST00000322535.6_Nonsense_Mutation_p.Q337*			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	337					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAAAAAGCCCCAGCGGGTGCG	0.572000													23	35					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62863651	62863651	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:62863651A>C	ENST00000536311.1	+	19	3255	c.2891A>C	c.(2890-2892)aAg>aCg	p.K964T	MYT1_ENST00000328439.1_Missense_Mutation_p.K937T			Q01538	MYT1_HUMAN	myelin transcription factor 1	937					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTCCTGGAAGTCCCTGAAG	0.632000													14	71					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135537838	135537838	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135537838G>A	ENST00000372159.3	-	2	786	c.635C>T	c.(634-636)cCa>cTa	p.P212L	DDX31_ENST00000310532.2_Missense_Mutation_p.P212L|DDX31_ENST00000438527.3_Missense_Mutation_p.P83L|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000372153.1_Missense_Mutation_p.P212L|DDX31_ENST00000544003.1_Missense_Mutation_p.P116L	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	212						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGGAGTTCTGGAATGTCAGG	0.433000													33	77					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475196	5475196	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5475196C>T	ENST00000341449.2	+	1	559	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P160S(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCCCTCTTCCCTTTCTTAT	0.498000													32	45					0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55647046	55647046	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:55647046T>G	ENST00000164305.5	+	11	1679	c.1388T>G	c.(1387-1389)cTg>cGg	p.L463R	PIGB_ENST00000539642.1_Missense_Mutation_p.L268R	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	463					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CCGCCAGACCTGACTGGAAAA	0.373000													3	21					0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6913002	6913002	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6913002G>A	ENST00000330590.2	-	2	272	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ACACACCCCGGAGAGGGACTC	0.557000													7	10					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71165669	71165669	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71165669T>C	ENST00000357585.2	+	2	580	c.211T>C	c.(211-213)Tat>Cat	p.Y71H	SSTR2_ENST00000315332.2_Missense_Mutation_p.Y71H|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	71					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CATCCTCCGCTATGCCAAGAT	0.478000													5	82					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64559447	64559447	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64559447A>G	ENST00000294066.2	-	27	2117	c.2026T>C	c.(2026-2028)Tgc>Cgc	p.C676R	MAP4K2_ENST00000377350.3_Missense_Mutation_p.C668R	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	676	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGACGCGGCAGCCGGGCCCC	0.706000													5	13					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379249	57379249	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57379249G>A	ENST00000403558.1	+	6	1584	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	SERPING1_ENST00000378323.4_Silent_p.L368L|SERPING1_ENST00000378324.2_Silent_p.L311L|SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000278407.4_Silent_p.L363L	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	363					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCAGAACCTGAAACATCGTC	0.493000													67	97					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74340365	74340365	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:74340365G>A	ENST00000263681.2	+	9	1132	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	POLD3_ENST00000532497.1_Missense_Mutation_p.E229K|POLD3_ENST00000527458.1_Missense_Mutation_p.E296K	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	335					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|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	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGTGAAGATGAAGGTGGGCA	0.373000													32	35					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084287	17084287	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17084287C>T	ENST00000455405.2	-	0	521																											ACACTTGGTCCCTGGAGGCAC	0.582000													23	476					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043083	20043083	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20043083C>T	ENST00000570682.1	-	2	1336	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	346						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATAGGTTTTCCATTTTTGTCA	0.458000													48	46					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144403444	144403444	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144403444T>A	ENST00000523676.1	-	9	1184	c.779A>T	c.(778-780)cAa>cTa	p.Q260L	TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q260L|TOP1MT_ENST00000329245.4_Missense_Mutation_p.Q358L|TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q260L			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	358					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)	CACCACGTGTTGGCAGCCATC	0.652000													4	65					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104748312	104748312	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:104748312T>C	ENST00000334877.4	+	22	3942	c.3408T>C	c.(3406-3408)acT>acC	p.T1136T	KMT2E_ENST00000334914.7_Silent_p.T191T|KMT2E_ENST00000311117.3_Silent_p.T1136T|KMT2E_ENST00000257745.4_Silent_p.T1136T					lysine (K)-specific methyltransferase 2E																		TCGGACGGACTGTTAATGACA	0.383000													9	37					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220139	13220139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:13220139C>T	ENST00000197268.8	+	7	1171	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	351						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGCCCAAAATCGAGACAGCTC	0.458000													43	54					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138378395	138378395	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:138378395T>C	ENST00000394817.2	-	5	506	c.367A>G	c.(367-369)Acc>Gcc	p.T123A	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.T123A|SIL1_ENST00000509534.1_Missense_Mutation_p.T130A	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	123	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGGTGTTGGTGTTGATATCC	0.483000									Marinesco-Sjgren syndrome				34	41					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51170694	51170694	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51170694C>T	ENST00000293441.1	-	22	4541	c.4523G>A	c.(4522-4524)aGg>aAg	p.R1508K	SHANK1_ENST00000391813.1_Missense_Mutation_p.R895K|SHANK1_ENST00000391814.1_Missense_Mutation_p.R1516K|SHANK1_ENST00000359082.3_Missense_Mutation_p.R1499K|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1508					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)		GGGGGGACCCCTTCCGCTCGT	0.751000													5	3					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133869	57133869	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57133869C>T	ENST00000328070.6	+	3	1448	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ATCGTGCACACCGGGGAGAAG	0.642000													65	42					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523977	23523977	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:23523977A>G	ENST00000305877.8	+	1	1581	c.830A>G	c.(829-831)cAg>cGg	p.Q277R	BCR_ENST00000398512.5_Missense_Mutation_p.Q277R|BCR_ENST00000359540.3_Missense_Mutation_p.Q277R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	277	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTGGAGTACCAGCCCTACCAG	0.657000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	45					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962528	10962528	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10962528G>A	ENST00000240691.2	-	1	239	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	49					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCCAAGCTGATCAGGATGA	0.403000													36	66					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139278020	139278020	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139278020A>G	ENST00000395297.1	-	4	393	c.223T>C	c.(223-225)Tta>Cta	p.L75L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	75										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCCGGTATAAGATCTGAAAG	0.488000										HNSCC(54;0.14)			9	38					0	0	1	0	0
ARMC7	79637	broad.mit.edu	37	17	73125007	73125007	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:73125007G>A	ENST00000245543.1	+	3	773	c.471G>A	c.(469-471)cgG>cgA	p.R157R	ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	157							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CCAGGCTCCGGAACCTGGCAC	0.701000													27	0					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3445953	3445953	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3445953T>G	ENST00000301365.4	-	6	637	c.506A>C	c.(505-507)aAg>aCg	p.K169T	TRPV3_ENST00000572519.1_Missense_Mutation_p.K169T|TRPV3_ENST00000576742.1_Missense_Mutation_p.K169T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	169						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CAGGCAGGTCTTCCCCGTGTC	0.602000													10	27					0	0	1	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743091	13743091	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:13743091C>T	ENST00000316412.5	+	2	379	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PRAMEF20_ENST00000602960.1_Missense_Mutation_p.R94C	NM_001099852.1	NP_001093322.1	Q5VT98	PRA20_HUMAN	PRAME family member 20	94										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACAGGGTTCGTCTCAGGTG	0.602000													31	30					0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101259573	101259573	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:101259573C>T	ENST00000223167.4	-	6	637	c.460G>A	c.(460-462)Gac>Aac	p.D154N		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	154	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCCTCTGGGTCCGTGCCTATA	0.587000													20	25					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464623	141464623	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141464623G>A	ENST00000247879.2	+	1	727	c.665G>A	c.(664-666)aGa>aAa	p.R222K	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	222					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ACAAGCTCCAGAGATCCAACC	0.478000													22	23					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529248	13529248	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:13529248G>A	ENST00000318426.2	-	2	309	c.92C>T	c.(91-93)tCa>tTa	p.S31L	C12orf36_ENST00000527705.2_Missense_Mutation_p.S31L|C12orf36_ENST00000532841.1_Missense_Mutation_p.S31L|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.S31L					chromosome 12 open reading frame 36									p.S31L(1)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		agtggagcatgaagtgtcttc	0.488000													8	17					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221352	63221352	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:63221352C>T	ENST00000449996.3	+	18	1703	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	RGS9_ENST00000443584.3_Missense_Mutation_p.A544V|RGS9_ENST00000262406.9_Missense_Mutation_p.A547V	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	547				GSMAPR -> WSGANP (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGGTCCATGGCCCCCCGTGGG	0.692000													125	9					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587489	70587489	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70587489G>A	ENST00000310961.5	+	27	4825	c.4407G>A	c.(4405-4407)atG>atA	p.M1469I	LRRC7_ENST00000035383.5_Missense_Mutation_p.M1511I|LRRC7_ENST00000415775.2_Missense_Mutation_p.M795I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1511	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGTACATATGGAACATGAAA	0.308000													14	55					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87024365	87024365	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87024365C>T	ENST00000395169.3	-	6	1005	c.285G>A	c.(283-285)caG>caA	p.Q95Q	MAPK10_ENST00000359221.3_Silent_p.Q133Q|MAPK10_ENST00000361569.2_Silent_p.Q133Q|MAPK10_ENST00000513839.1_Intron|MAPK10_ENST00000395166.1_Silent_p.Q95Q|MAPK10_ENST00000395160.3_Intron|MAPK10_ENST00000395161.2_Silent_p.Q133Q|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395157.3_Intron	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	133	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCAGCGTTTTCTGGGGTGTGA	0.398000													20	46					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052501	15052501	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15052501C>T	ENST00000248072.3	+	1	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CCAACCTGTCCTTTGCTGACA	0.483000													35	34					0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19038659	19038659	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19038659A>G	ENST00000247003.4	+	11	1254	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G	DDX49_ENST00000438170.2_3'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	396							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			AGAGAGTGTGAGATCGTGAGT	0.602000													7	63					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523987	24523987	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:24523987C>T	ENST00000376862.3	+	2	887	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	85					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TCAGTGGAGTCCCGCTACCGG	0.672000													48	35					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32049991	32049991	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32049991A>G	ENST00000375244.3	-	9	3759	c.3558T>C	c.(3556-3558)ttT>ttC	p.F1186F	TNXB_ENST00000375247.2_Silent_p.F1186F			P22105	TENX_HUMAN	tenascin XB	1273	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAGGTGTCAAACTGGCCCT	0.602000													6	54					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126473	41126473	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41126473T>C	ENST00000338469.3	-	4	631	c.528A>G	c.(526-528)ggA>ggG	p.G176G	TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000373113.3_3'UTR	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	166					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGGGACTTCTCCTGGGCTTT	0.587000													4	53					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705338	30705338	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30705338A>C	ENST00000256246.2	-	1	1270	c.1196T>G	c.(1195-1197)gTt>gGt	p.V399G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	399										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGAAATAACTGTATCAAT	0.333000													15	55					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339687	116339687	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:116339687A>C	ENST00000397752.3	+	2	749	c.549A>C	c.(547-549)aaA>aaC	p.K183N	MET_ENST00000436117.2_Missense_Mutation_p.K183N|MET_ENST00000318493.6_Missense_Mutation_p.K183N	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	183	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGGGAGCCAAAGTCCTTTCAT	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				22	107					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24728443	24728443	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24728443C>T	ENST00000206765.6	-	7	1120	c.997G>A	c.(997-999)Gat>Aat	p.D333N	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	333					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCATTGTCATCCAGGGAGTTC	0.617000													3	14					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900364	13900364	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13900364G>A	ENST00000265104.4	-	15	2314	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	737	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGAAGAGGGAAGTTGCCAG	0.408000									Kartagener syndrome				42	31					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32798458	32798458	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32798458G>A	ENST00000380250.3	+	37	5348	c.4852G>A	c.(4852-4854)Gga>Aga	p.G1618R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGTACTGGAGGATGCTGGGC	0.572000													35	36					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072453	34072453	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34072453C>T	ENST00000254466.6	-	6	2090	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.G672E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	688					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTTCCCGGTCCTGGGGTAAC	0.612000													158	12					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48040456	48040456	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48040456T>G	ENST00000403359.3	-	18	2216	c.2144A>C	c.(2143-2145)aAg>aCg	p.K715T	FBXO11_ENST00000316377.4_Missense_Mutation_p.K631T|FBXO11_ENST00000434523.2_Missense_Mutation_p.K139T|FBXO11_ENST00000402508.1_Missense_Mutation_p.K631T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	715					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTATCTGTCTTAATCCAGAC	0.338000			"""Mis, F, D"""		DLBCL								21	59					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588974	31588974	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:31588974C>T	ENST00000379416.3	-	22	2372	c.2322_splice	c.e22-1	p.S775_splice		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	775					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGCAACAAAGCTCTGTGAGTG	0.493000													20	58					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579709	44579709	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44579709A>G	ENST00000289547.4	-	2	342	c.287T>C	c.(286-288)cTg>cCg	p.L96P	NPC1L1_ENST00000546276.1_Missense_Mutation_p.L96P|NPC1L1_ENST00000423141.1_Missense_Mutation_p.L96P|NPC1L1_ENST00000381160.3_Missense_Mutation_p.L96P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	96					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGTGATACCAGCTGCTTGGC	0.592000													10	66					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076967	41076967	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:41076967G>A	ENST00000373198.3	-	9	1688	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	PTPRT_ENST00000373184.1_Missense_Mutation_p.P485S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P485S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P485S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P485S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P485S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P485S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	485	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGCTCCTGGAACTACAGAA	0.483000													38	70					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290946	132290946	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132290946G>A	ENST00000295171.6	+	8	1250	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	CCDC74A_ENST00000409856.3_Missense_Mutation_p.R305Q|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	371										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGCAGAAACGGCGCCTGCAT	0.597000													6	23					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42992732	42992732	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42992732A>C	ENST00000244496.5	+	2	150	c.140A>C	c.(139-141)aAc>aCc	p.N47T		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	47					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GGCACATCTAACATGTCATTT	0.463000													7	25					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170531145	170531145	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170531145T>G	ENST00000447353.1	-	4	708	c.603A>C	c.(601-603)caA>caC	p.Q201H		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		CTGCTTTTTCTTGTTCTTCTT	0.338000													8	32					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334911	7334911	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7334911G>A	ENST00000318881.6	+	3	1020	c.783G>A	c.(781-783)aaG>aaA	p.K261K	SYT9_ENST00000396716.2_Silent_p.K229K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	261	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTTATGTCAAGATCTATTTGC	0.408000													82	80					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032951	16032951	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16032951G>A	ENST00000326742.7	-	8	1012	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CYP4F11_ENST00000248041.7_Silent_p.L337L|CYP4F11_ENST00000402119.3_Silent_p.L337L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	337					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGACCCAGGAGAGACCACTGG	0.547000													15	63					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585795	42585795	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42585795T>G	ENST00000289957.2	+	4	436	c.308T>G	c.(307-309)aTt>aGt	p.I103S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	103					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCCATTCCATTAAAGTTCCA	0.353000													8	43					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34535446	34535446	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34535446C>T	ENST00000374012.3	+	18	3065	c.2936C>T	c.(2935-2937)cCc>cTc	p.P979L	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAACTGGAGCCCCCTGAGCCG	0.562000													25	32					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270404	53270404	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53270404T>G	ENST00000338230.3	-	3	872	c.605A>C	c.(604-606)aAg>aCg	p.K202T		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAGGTATTGCTTGTGATTAAA	0.393000													18	154					0	0	1	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847128	32847128	+	RNA	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32847128A>T	ENST00000420261.1	-	0	497																											GGTCTTTTGAAATTAATTGTC	0.373000													6	16					0	0	1	0	0
TRAV21	28662	broad.mit.edu	37	14	22521083	22521083	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22521083G>A	ENST00000390449.3	+	0	111																											GTCCCAGAAGGAGAAAACTTG	0.478000													65	37					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75698650	75698650	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:75698650G>A	ENST00000393284.3	-	8	628	c.27C>T	c.(25-27)gtC>gtT	p.V9V	CAPS2_ENST00000409799.1_Silent_p.V191V|CAPS2_ENST00000409445.3_Silent_p.V241V|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_5'UTR			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	241							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GATCACTGATGACAGCCCTAT	0.323000													16	3					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21981964	21981964	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21981964C>T	ENST00000261200.4	-	29	3596	c.3597G>A	c.(3595-3597)ctG>ctA	p.L1199L	ABCC9_ENST00000261201.4_Silent_p.L1199L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.L1163L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1199	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCGTCAGTTCCAGCATACGTT	0.413000													33	47					0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12870265	12870265	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:12870265T>A	ENST00000524591.2	+	4	716	c.227T>A	c.(226-228)cTg>cAg	p.L76Q	KIAA1456_ENST00000447063.2_Missense_Mutation_p.L76Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	76							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGTGGGCCACTGGTAGAGATT	0.478000													28	84					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031093	79031093	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79031093G>A	ENST00000446378.2	+	2	6536	c.6505G>A	c.(6505-6507)Gaa>Aaa	p.E2169K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2169						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCTTCCTGAGGAAAAGGGAAA	0.458000													22	22					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766258	13766258	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13766258G>A	ENST00000265104.4	-	59	10032	c.9928C>T	c.(9928-9930)Cgc>Tgc	p.R3310C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3310	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAACGTGCGAACAGTGGCG	0.522000									Kartagener syndrome				87	86					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287412	33287412	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33287412G>A	ENST00000374542.5	-	6	1889	c.1685C>T	c.(1684-1686)cCt>cTt	p.P562L	DAXX_ENST00000266000.6_Missense_Mutation_p.P562L|DAXX_ENST00000414083.2_Missense_Mutation_p.P487L|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	562	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGAGACACAGGGCTTTCTTC	0.532000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								51	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047843	9047843	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9047843T>A	ENST00000397910.4	-	5	33991	c.33788A>T	c.(33787-33789)aAt>aTt	p.N11263I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11265	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						CAATGAGATATTTGTAAACGG	0.478000													11	16					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276095	42276095	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42276095C>T	ENST00000399518.3	-	20	2950	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E793K|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	810	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TATGTCAGCTCCTTGGTGGCA	0.537000													4	8					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329204	88329204	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:88329204C>T	ENST00000325089.6	+	2	1780	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P280S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	521						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCAGGCCATGCCCTCAGGCGT	0.532000													56	26					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428878	142428878	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142428878C>T	ENST00000390400.2	+	0	258																											AGGAGATATTCCTGAGGGGTA	0.473000													22	29					0	0	1	0	0
FAM209B	388799	broad.mit.edu	37	20	55111489	55111489	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:55111489A>G	ENST00000371325.1	+	2	607	c.511A>G	c.(511-513)Agc>Ggc	p.S171G		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	171						integral to membrane											AGAAAGCTCTAGCTGAATGGA	0.408000													8	93					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563556	228563556	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228563556A>C	ENST00000258403.3	-	3	946	c.875T>G	c.(874-876)tTt>tGt	p.F292C	SLC19A3_ENST00000541617.1_Missense_Mutation_p.F288C|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	292					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AACCTGGTTAAAACCTGCTGT	0.453000													18	34					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661616	113661616	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:113661616G>A	ENST00000393544.2	+	0	1664																											AAGGAGATAGGAAGCCAGACT	0.507000													15	0					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47734757	47734757	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47734757A>C	ENST00000254480.5	-	12	1318	c.1199T>G	c.(1198-1200)gTt>gGt	p.V400G	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	400					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTCCTTTAACAGGTGTATT	0.333000													41	17					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220476518	220476518	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220476518C>T	ENST00000456909.1	+	18	2387	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	STK11IP_ENST00000295641.10_Missense_Mutation_p.P777L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	777					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCAGGCACCGAGCACCCGT	0.597000													5	12					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183194	140183194	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140183194A>G	ENST00000532566.2	+	1	2412	c.2412A>G	c.(2410-2412)ttA>ttG	p.L804L	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031497.1	NP_113685.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTTATTTATTCTTTCCAA	0.358000													6	18					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143078778	143078778	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143078778C>T	ENST00000322764.5	+	2	459	c.114C>T	c.(112-114)ccC>ccT	p.P38P	ZYX_ENST00000449423.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	38					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAGTGAATCCCTTCCGGCCCG	0.706000													8	17					0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23114258	23114258	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:23114258G>A	ENST00000557922.1	-	0	174					NR_040057.1																						GATTCAGAGGGCATCTTTTCT	0.443000													19	18					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61066506	61066506	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61066506G>A	ENST00000238497.5	-	8	1044	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	281					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGAACCCAGGGTATATTTGTA	0.348000													36	2					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491164	100491164	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:100491164G>A	ENST00000279907.7	-	6	860	c.648C>T	c.(646-648)atC>atT	p.I216I	UHRF1BP1L_ENST00000356828.3_Silent_p.I216I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	216										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTGACTCTGATTTTTGATT	0.338000													9	0					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:2661593C>T	ENST00000324666.5	+	8	1035	c.684C>T	c.(682-684)gaC>gaT	p.D228D	FAM193A_ENST00000382839.3_Silent_p.D228D|FAM193A_ENST00000505311.1_Silent_p.D228D|FAM193A_ENST00000545951.1_Silent_p.D228D|FAM193A_ENST00000502458.1_Silent_p.D252D	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522000													57	14					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28472176	28472176	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28472176G>A	ENST00000361902.1	-	5	608	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	GPX6_ENST00000474923.1_Silent_p.F153F	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	187					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGCCCCACCAGAAATTTCTCA	0.522000													23	34					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022789	6022789	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6022789T>G	ENST00000378858.4	-	5	1326	c.1102A>C	c.(1102-1104)Acc>Ccc	p.T368P		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	368						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGAGAGTGGTGCTTTGGTCG	0.687000													31	61					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763093	43763093	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43763093T>A	ENST00000418820.2	-	3	723	c.625A>T	c.(625-627)Aga>Tga	p.R209*	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Nonsense_Mutation_p.R209*|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000270077.3_Nonsense_Mutation_p.R302*			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	209	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTTCATTTCTCGTGACACTG	0.488000													19	98					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346465	70346465	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70346465C>T	ENST00000305107.6	-	6	1520	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	UGT2B4_ENST00000381096.3_Missense_Mutation_p.D356N|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	492					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAGTCACATCCAAAGAGTGG	0.488000													39	75					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357470	40357470	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40357470G>A	ENST00000221347.6	-	34	15850	c.15843C>T	c.(15841-15843)gtC>gtT	p.V5281V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5281	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGATCTGGACTTCGGCAA	0.572000													25	53					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410677	153410677	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153410677G>A	ENST00000368725.2	-	2	161	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACTGAGGAAGTTGGGGA	0.522000													20	26					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2112911	2112911	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2112911T>G	ENST00000355272.6	-	24	2941	c.2735A>C	c.(2734-2736)aAg>aCg	p.K912T	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000345016.5_Intron|AP3D1_ENST00000356926.4_Missense_Mutation_p.K809T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	872					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTCCGTCTTGGCGTCCTC	0.662000													14	50					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485165	35485165	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35485165A>C	ENST00000357182.4	-	4	444	c.217T>G	c.(217-219)Tca>Gca	p.S73A	ZMYM6_ENST00000317538.5_Missense_Mutation_p.S73A|ZMYM6_ENST00000373333.1_Missense_Mutation_p.S73A|ZMYM6_ENST00000373340.2_Missense_Mutation_p.S73A|ZMYM6_ENST00000487874.1_Missense_Mutation_p.S73A|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	73					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGGCCAGATGATGCAAAAGAA	0.373000													12	50					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25589753	25589753	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:25589753G>A	ENST00000269141.3	-	5	1053	c.630C>T	c.(628-630)ttC>ttT	p.F210F	CDH2_ENST00000399380.3_Silent_p.F179F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	210	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTTGATAATGAAGATACCAG	0.493000													22	48					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	420925	420925	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:420925G>A	ENST00000354200.4	-	6	882	c.735C>T	c.(733-735)tgC>tgT	p.C245C	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	245	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TCAGTGGGTGGCAGGCCAGGA	0.562000													10	24					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40113034	40113034	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:40113034T>G	ENST00000373233.3	-	15	2392	c.2215A>C	c.(2215-2217)Atg>Ctg	p.M739L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	739					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)				CTCAGCTCCATCATGGTGTTG	0.493000													6	166					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64153079	64153079	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64153079A>C	ENST00000247225.6	-	3	1164	c.1070T>G	c.(1069-1071)aTt>aGt	p.I357S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	357						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGTCACAGTAATGGGGGGCCC	0.398000													18	58					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62021645	62021645	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:62021645C>T	ENST00000280772.1	-	7	961	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	ANK3_ENST00000373827.2_Missense_Mutation_p.R251Q|ANK3_ENST00000503366.1_Missense_Mutation_p.R240Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	257					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGCAGCCGCTCGGTTTAACAG	0.428000													26	20					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092737	27092737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27092737C>T	ENST00000324856.7	+	9	3129	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	920					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								44	35					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3240139	3240139	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3240139T>G	ENST00000252032.9	-	33	3109	c.3042A>C	c.(3040-3042)aaA>aaC	p.K1014N	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1014										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAAACTTCACTTTGCCCAGGA	0.532000													11	57					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959630	102959630	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102959630A>T	ENST00000311734.2	+	7	1156	c.817A>T	c.(817-819)Aat>Tat	p.N273Y	IL1RL1_ENST00000233954.1_Missense_Mutation_p.N273Y|IL1RL1_ENST00000404917.2_Missense_Mutation_p.N156Y|IL1RL1_ENST00000409584.1_Missense_Mutation_p.N259Y			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	273	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGAAGGGCAAAATCAAAGGTA	0.413000													62	30					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60856923	60856923	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60856923T>G	ENST00000313733.3	+	9	1062	c.860T>G	c.(859-861)aTt>aGt	p.I287S	OSBPL2_ENST00000439951.2_Missense_Mutation_p.I195S|OSBPL2_ENST00000358053.2_Missense_Mutation_p.I275S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	287					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAAGGACACATTCAAGACAAA	0.478000													4	49					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53613028	53613028	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53613028C>T	ENST00000455735.2	-	7	734	c.414G>A	c.(412-414)aaG>aaA	p.K138K	ZNF415_ENST00000421033.1_Silent_p.K102K|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.K90K|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.K77K|ZNF415_ENST00000500065.4_Silent_p.K90K|ZNF415_ENST00000448501.1_Silent_p.K138K|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601215.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTATTTTTTTCTTGATTTCCC	0.403000													12	100					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670319	3670319	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3670319A>G	ENST00000344754.4	-	19	4924	c.4925T>C	c.(4924-4926)cTg>cCg	p.L1642P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1642P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1642					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						GACCCAGAGCAGCTGCTGGAA	0.667000													4	8					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691178	18691178	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18691178G>A	ENST00000433979.1	+	24	3405	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1138K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1097K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGATTTTGTGGAACTTTGCTG	0.383000													27	50					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622266	234622266	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234622266G>A	ENST00000373414.3	+	1	629	c.629G>A	c.(628-630)aGg>aAg	p.R210K	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTCCTGCAAAGGGTCAAGAAC	0.473000													101	49					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584556	189584556	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:189584556G>A	ENST00000264731.3	+	6	941	c.852G>A	c.(850-852)caG>caA	p.Q284Q	TP63_ENST00000392461.3_Silent_p.Q190Q|TP63_ENST00000320472.5_Silent_p.Q284Q|TP63_ENST00000440651.2_Silent_p.Q284Q|TP63_ENST00000382063.4_Silent_p.Q199Q|TP63_ENST00000354600.5_Silent_p.Q190Q|TP63_ENST00000392460.3_Silent_p.Q284Q|TP63_ENST00000449992.1_Silent_p.Q105Q|TP63_ENST00000418709.2_Silent_p.Q284Q|TP63_ENST00000456148.1_Silent_p.Q190Q|TP63_ENST00000437221.1_Silent_p.Q190Q|TP63_ENST00000392463.2_Silent_p.Q190Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	284					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGGAAGACAGAGTGTGCTGG	0.458000										HNSCC(45;0.13)			42	87					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120920	38120920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:38120920G>A	ENST00000395867.3	-	6	1913	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Nonsense_Mutation_p.Q455*	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGTGTTCTCTGATGTTCAGTG	0.458000													23	58					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187118751	187118751	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187118751T>G	ENST00000378802.4	+	5	973	c.669T>G	c.(667-669)gtT>gtG	p.V223V		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	223					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TCCGTGCAGTTTATAGGTAAA	0.318000													3	33					0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247202738	247202738	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247202738T>G	ENST00000366503.2	-	2	263	c.105A>C	c.(103-105)gaA>gaC	p.E35D		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TCCTGAAGATTTCTTGCATCA	0.453000													29	67					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397034	3397034	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3397034C>T	ENST00000378378.4	+	15	2418	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L	ARHGEF16_ENST00000413250.2_Silent_p.L375L|ARHGEF16_ENST00000378371.2_Silent_p.L383L|ARHGEF16_ENST00000378373.1_Silent_p.L383L	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	671	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCGAGAGGCTCCGGGACGGAG	0.677000													42	56					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12142407	12142407	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:12142407C>T	ENST00000566228.1	+	7	747	c.678C>T	c.(676-678)gcC>gcT	p.A226A	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCTCCTCTGCCGTCTCCATCC	0.582000													29	40					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48540596	48540596	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48540596T>C	ENST00000427954.2	+	8	990	c.947T>C	c.(946-948)cTg>cCg	p.L316P	ACSF2_ENST00000504392.1_Missense_Mutation_p.L248P|ACSF2_ENST00000300441.4_Missense_Mutation_p.L291P|ACSF2_ENST00000541920.1_Missense_Mutation_p.L131P|ACSF2_ENST00000502667.1_Missense_Mutation_p.L278P			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	291			V -> M (in dbSNP:rs3744523).		fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGAGAGCGCCTGAAACTGCAT	0.622000													47	70					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898785	134898785	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:134898785G>A	ENST00000398015.3	+	10	2213	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	EPHB1_ENST00000493838.1_Missense_Mutation_p.D176N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	615						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAAGGAGATTGATGTATCTTT	0.478000													29	110					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342678	40342678	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:40342678G>A	ENST00000406785.1	-	8	2718	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	SLC8A1_ENST00000405901.3_Silent_p.F874F|SLC8A1_ENST00000403092.1_Silent_p.F879F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F843F|SLC8A1_ENST00000332839.4_Silent_p.F879F|SLC8A1_ENST00000405269.1_Silent_p.F843F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F874F|SLC8A1_ENST00000542024.1_Silent_p.F843F|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F871F|SLC8A1_ENST00000406391.2_Silent_p.F843F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	879					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGATTCCCAGGAAGACATTCA	0.572000													11	41					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579459	58579459	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58579459C>T	ENST00000506786.1	+	5	2035	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	ZNF135_ENST00000511556.1_Missense_Mutation_p.P548L|ZNF135_ENST00000401053.4_Missense_Mutation_p.P560L|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.P536L|ZNF135_ENST00000439855.2_Missense_Mutation_p.P536L			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	548					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P560H(1)|p.P536H(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCTTGCTCCCCTCATTCAG	0.542000													36	81					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10264846	10264846	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:10264846G>A	ENST00000360566.2	+	5	909	c.618G>A	c.(616-618)gtG>gtA	p.V206V	RRM2_ENST00000304567.5_Silent_p.V146V	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	146					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCCACTAGGTGGAGCGATTTA	0.408000													28	29					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118036	93118036	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93118036C>T	ENST00000216487.7	+	6	801	c.642C>T	c.(640-642)gcC>gcT	p.A214A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	214					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGCCCACAGCCCATGACGCAA	0.587000													37	48					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693428	187693428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:187693428C>T	ENST00000295131.2	-	9	1224	c.1185G>A	c.(1183-1185)tgG>tgA	p.W395*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	395					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGAATTTTTCCAAGTTAAAG	0.348000													11	6					0	0	1	0	0
TAC1	6863	broad.mit.edu	37	7	97369198	97369198	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:97369198G>A	ENST00000319273.5	+	7	653	c.356G>A	c.(355-357)aGg>aAg	p.R119K	TAC1_ENST00000350485.4_Missense_Mutation_p.R101K|TAC1_ENST00000346867.4_Missense_Mutation_p.R104K	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	119					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GCTTATGAAAGGAGTGCAATG	0.323000													7	16					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2291763	2291763	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:2291763G>A	ENST00000381458.5	+	4	591	c.528G>A	c.(526-528)tgG>tgA	p.W176*		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	176					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGATTGGCTGGAACTTTGGAC	0.493000													50	73					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95480868	95480868	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95480868C>T	ENST00000432432.2	-	0	2492					NR_040113.1																						AAGAGACTTTCTTTTAAATGA	0.313000													9	32					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411960	43411960	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43411960C>T	ENST00000187910.2	-	4	818	c.753G>A	c.(751-753)agG>agA	p.R251R	PSG6_ENST00000292125.2_Silent_p.R251R|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCTTCTTCTCCCTGGGGTTTA	0.512000													58	219					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344947	23344947	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23344947A>G	ENST00000359591.4	+	5	1481	c.790A>G	c.(790-792)Agt>Ggt	p.S264G	LRP10_ENST00000546834.1_Missense_Mutation_p.S264G	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	264	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACTACTGCGTAGTCTCACCCA	0.602000													13	28					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16035410	16035410	+	Missense_Mutation	SNP	C	C	T	rs143927568	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:16035410C>T	ENST00000350896.3	-	2	285	c.88G>A	c.(88-90)Gct>Act	p.A30T	MSR1_ENST00000536385.1_5'UTR|MSR1_ENST00000262101.5_Missense_Mutation_p.A30T|MSR1_ENST00000445506.2_Missense_Mutation_p.A48T|MSR1_ENST00000355282.2_Missense_Mutation_p.A30T|MSR1_ENST00000381998.4_Missense_Mutation_p.A30T	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	30					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGAAGCAAAGCTGTCATTGAG	0.428000													15	16					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542496	10542496	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10542496G>A	ENST00000583535.1	-	25	3200	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1038F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1038					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						TTGTTCTAGGGAGCTTTCCAG	0.473000													62	4					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266684	48266684	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48266684C>T	ENST00000302329.3	+	1	77	c.29C>T	c.(28-30)tCt>tTt	p.S10F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGGTACTTTCTCCCAACCAG	0.428000													37	48					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072540	197072540	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197072540G>A	ENST00000367409.4	-	18	6097	c.5841C>T	c.(5839-5841)ctC>ctT	p.L1947L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1947	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCGCATGACGGAGTTCAATAT	0.398000													87	105					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33695655	33695655	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33695655C>T	ENST00000253193.7	+	4	574	c.372C>T	c.(370-372)atC>atT	p.I124I	LRP3_ENST00000592484.1_3'UTR	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	124	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCTCCGCCATCCCACCTGCCT	0.657000													7	151					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124211649	124211649	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124211649G>A	ENST00000360013.3	+	32	4873	c.4746G>A	c.(4744-4746)agG>agA	p.R1582R	KALRN_ENST00000460856.1_Silent_p.R1573R|KALRN_ENST00000240874.3_Silent_p.R1582R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1582					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCAAGAAAGGATCATTCACC	0.478000													22	87					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42657358	42657358	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42657358T>G	ENST00000372899.1	+	46	5334	c.5076T>G	c.(5074-5076)ttT>ttG	p.F1692L	UBR2_ENST00000372901.1_Missense_Mutation_p.F1692L|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1692					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAGGCTGTTTTTATTCTCCTC	0.473000													35	473					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994779	121994779	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121994779G>A	ENST00000498619.1	+	5	1936	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	CASR_ENST00000296154.5_Missense_Mutation_p.D500N|CASR_ENST00000490131.1_Missense_Mutation_p.D500N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	500					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCCCCAGAGGATGGCTCCAT	0.478000													156	7					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796757	43796757	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43796757G>A	ENST00000291532.3	-	11	2042	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.P447S|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.P360S|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.P362S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	363	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GAAATCAAAGGGACGGCCGCG	0.602000													121	152					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324084	25324084	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25324084G>A	ENST00000549804.2	+	0	1319																											GAGATGGCAGGGAACCCATGG	0.502000													6	10					0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354648	33354648	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33354648A>C	ENST00000373467.3	+	2	251	c.149A>C	c.(148-150)aAg>aCg	p.K50T	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	50	EF-hand 1.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GAGTTCAAGAAGATCTACGCC	0.532000													12	75					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83835246	83835246	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:83835246C>T	ENST00000349129.2	+	15	1773	c.1513C>T	c.(1513-1515)Cac>Tac	p.H505Y	DOPEY1_ENST00000369739.3_Missense_Mutation_p.H496Y|DOPEY1_ENST00000237163.5_Missense_Mutation_p.H486Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	505					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CCAGACAGAACACTTGCCCCA	0.363000													26	34					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44475715	44475715	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44475715A>C	ENST00000372310.3	-	4	406	c.241T>G	c.(241-243)Ttc>Gtc	p.F81V	SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000360584.2_Missense_Mutation_p.F154V|SLC6A9_ENST00000372307.3_Missense_Mutation_p.F16V|SLC6A9_ENST00000537678.1_Missense_Mutation_p.F16V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.F81V|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.F100V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	154						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCATGAAGAAGAGGGGGATC	0.612000													8	119					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615714	179615714	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179615714C>T	ENST00000360870.5	-	46	11635	c.11413G>A	c.(11413-11415)Gaa>Aaa	p.E3805K	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9642							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)			ATTCTTATTTCAGTCTGGAAA	0.348000													26	64					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029329	68029329	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68029329G>A	ENST00000304271.6	-	4	1536	c.1134C>T	c.(1132-1134)ccC>ccT	p.P378P	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	378						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTTGGGTGCTGGGCTGGCACG	0.607000													31	32					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130159	153130159	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153130159C>T	ENST00000370060.1	-	24	3236	c.3046_splice	c.e24-1	p.G1016_splice	L1CAM_ENST00000370055.1_Splice_Site_p.G1011_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G1018_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G1011_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G1016_splice|L1CAM_ENST00000543994.1_Splice_Site_p.G1018_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G1016_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1016	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGAGATCCCTGGGGGGAT	0.612000													76	4					0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122689170	122689170	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122689170T>G	ENST00000324189.4	+	2	361	c.5T>G	c.(4-6)cTt>cGt	p.L2R	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000546192.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	2					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCGTTCATGCTTCCTCCCCAG	0.657000													6	11					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92554330	92554330	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92554330C>T	ENST00000370382.3	+	2	492	c.225C>T	c.(223-225)gtC>gtT	p.V75V	BTBD8_ENST00000342818.3_Silent_p.V75V|BTBD8_ENST00000540648.1_Silent_p.V75V			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	75	BTB 1.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ACAAAGCAGTCCTTTTAGCAA	0.368000													10	48					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159462159	159462159	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:159462159G>A	ENST00000231238.5	+	3	453	c.343G>A	c.(343-345)Gag>Aag	p.E115K	TTC1_ENST00000522793.1_Missense_Mutation_p.E115K	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	115					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAGAAGAGAAGAGAGCACTAG	0.363000													9	13					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763093	92763093	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92763093G>A	ENST00000318238.4	-	5	3408	c.2192C>T	c.(2191-2193)cCa>cTa	p.P731L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P731L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P731L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	731										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCAAATATTGGTTTAGGAGA	0.353000													48	52					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102713377	102713377	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:102713377T>G	ENST00000259400.6	+	4	361	c.225T>G	c.(223-225)ctT>ctG	p.L75L	STX17_ENST00000525640.1_Silent_p.L75L|STX17_ENST00000534052.1_Silent_p.L75L|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	75					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTGAGAAACTTTGTTTGAAAG	0.353000													7	51					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770339	38770339	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38770339C>T	ENST00000449082.2	-	15	2333	c.2334G>A	c.(2332-2334)aaG>aaA	p.K778K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	778					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCCGATGATCTTGATGAGTG	0.517000													19	39					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501161	195501161	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195501161G>A	ENST00000463781.3	-	4	13418	c.12959C>T	c.(12958-12960)cCc>cTc	p.P4320L	MUC4_ENST00000475231.1_Missense_Mutation_p.P4320L|MUC4_ENST00000349607.4_Missense_Mutation_p.P33L|MUC4_ENST00000346145.4_Missense_Mutation_p.P84L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1077					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCCCCATAGGGGAAGAGGGA	0.632000													23	94					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398855	196398855	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196398855C>T	ENST00000367433.5	-	9	772	c.671G>A	c.(670-672)gGa>gAa	p.G224E	KCNT2_ENST00000367431.4_Missense_Mutation_p.G224E|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.G224E|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	224						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCTTCTTTCCTATTCGTTC	0.383000													17	26					0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773475	17773475	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:17773475T>C	ENST00000406397.1	+	2	659	c.134T>C	c.(133-135)cTc>cCc	p.L45P	VSNL1_ENST00000404666.2_Missense_Mutation_p.L45P|VSNL1_ENST00000295156.4_Missense_Mutation_p.L45P			P62760	VISL1_HUMAN	visinin-like 1	45	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGCTAAATCTCGAGGAATTT	0.433000													46	70					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4014112	4014112	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4014112T>G	ENST00000404826.2	+	13	2068	c.1929T>G	c.(1927-1929)ggT>ggG	p.G643G	SDK1_ENST00000389531.3_Silent_p.G643G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	643	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGACATCGGTGACTACAGCT	0.567000													18	48					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926553	6926553	+	Silent	SNP	G	G	A	rs150705433		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6926553G>A	ENST00000312053.4	+	16	2200	c.2163G>A	c.(2161-2163)ccG>ccA	p.P721P	EMR1_ENST00000381404.4_Silent_p.P669P|EMR1_ENST00000450315.3_Silent_p.P544P|EMR1_ENST00000250572.8_Silent_p.P656P|EMR1_ENST00000381407.5_Silent_p.P580P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	721					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.P721P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGGGCTGCCGATGCTGGTGG	0.512000													51	56					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548070	19548070	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19548070C>T	ENST00000396212.2	+	5	1515	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	CCP110_ENST00000381396.5_Missense_Mutation_p.S360L|CCP110_ENST00000396208.2_Missense_Mutation_p.S360L	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	360	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTTACAGGTTCATATGCCAAA	0.378000													10	15					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494166	45494166	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45494166C>T	ENST00000541297.2	+	11	1805	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S359F|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S461F			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	461					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AAGGACAAGTCCACGTATATC	0.582000													19	25					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388020	50388020	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:50388020T>G	ENST00000434422.1	-	13	1534	c.1233A>C	c.(1231-1233)aaA>aaC	p.K411N	RACGAP1_ENST00000547905.1_Missense_Mutation_p.K411N|RACGAP1_ENST00000427314.2_Missense_Mutation_p.K411N|RACGAP1_ENST00000312377.5_Missense_Mutation_p.K411N|RACGAP1_ENST00000454520.2_Missense_Mutation_p.K411N|RACGAP1_ENST00000551016.1_Missense_Mutation_p.K411N			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	411	Rho-GAP.				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						TATCATCCACTTTGCTGAGGA	0.438000													26	34					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15960897	15960897	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:15960897T>C	ENST00000268712.3	-	40	6580	c.6323A>G	c.(6322-6324)cAg>cGg	p.Q2108R	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q2005R|NCOR1_ENST00000395857.3_Missense_Mutation_p.Q692R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2108	ID1 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGACAGACTGAGCCTGGGA	0.428000													22	123					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657455	1657455	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1657455T>C	ENST00000324015.3	+	10	1180	c.1103T>C	c.(1102-1104)aTc>aCc	p.I368T	SERPINF2_ENST00000382061.4_Missense_Mutation_p.I368T|SERPINF2_ENST00000450523.2_Missense_Mutation_p.I304T	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	368					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTGCGTGGGATCTCCGAGCAG	0.682000													13	104					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641516	57641516	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57641516G>A	ENST00000254181.4	+	4	1927	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	USP29_ENST00000598197.1_Silent_p.Q491Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	491					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGTAAGCAGAAGAGTTGTG	0.388000													51	130					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317161	30317161	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:30317161C>T	ENST00000375377.1	-	3	2017	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	639										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCCATGCTTCCTGTGAGGGC	0.502000													30	33					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954858	32954858	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:32954858A>C	ENST00000342179.5	+	14	1744	c.1529A>C	c.(1528-1530)aAg>aCg	p.K510T	DPY19L3_ENST00000392250.2_Missense_Mutation_p.K510T|DPY19L3_ENST00000586987.1_Missense_Mutation_p.K510T|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	510						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTACTTCTGAAGTCAGTCCAT	0.413000													23	104					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183547	1183547	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1183547G>A	ENST00000333813.3	+	1	591	c.252G>A	c.(250-252)agG>agA	p.R84R		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	84					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGCTCAAGGAGGGCGTCCT	0.662000													74	1					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716943	55716943	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55716943T>G	ENST00000376350.3	-	4	392	c.370A>C	c.(370-372)Aac>Cac	p.N124H	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	124	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACTCTCAGGTTCCTCACTGGG	0.572000													6	100					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650072	51650072	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51650072C>T	ENST00000317643.6	+	5	1158	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Silent_p.A270A	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	363					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GAGCCACAGCCCTGGTCTTCC	0.582000													20	108					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036900	75036900	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75036900T>C	ENST00000326665.5	-	14	4712	c.4494A>G	c.(4492-4494)ccA>ccG	p.P1498P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1498										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGGCTTCACTGGAAGTGTTG	0.517000													30	164					0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317580	38317580	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38317580C>T	ENST00000311856.4	+	7	1279	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	410						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCATCTTCATCCCAGCAGGTA	0.577000													5	14					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55148445	55148445	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55148445G>A	ENST00000414150.2	+	14	2776	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	MROH7_ENST00000395690.2_Missense_Mutation_p.R833Q|MROH7_ENST00000409996.1_Missense_Mutation_p.R401Q|MROH7_ENST00000339553.5_Missense_Mutation_p.R833Q|MROH7_ENST00000545244.1_Missense_Mutation_p.R401Q|MROH7_ENST00000454855.2_Missense_Mutation_p.R351Q|MROH7_ENST00000421030.2_Missense_Mutation_p.R833Q					maestro heat-like repeat family member 7																		AAGGAGGGCCGGGCTTCCATC	0.627000													12	50					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117907600	117907600	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:117907600C>T	ENST00000425217.1	-	19	2680	c.2625_splice	c.e19-1	p.D876_splice	KSR2_ENST00000339824.5_Splice_Site_p.D905_splice|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	905	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)					AGAAGAATGTCCTAAATGAAA	0.453000													10	0					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39907865	39907865	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39907865T>C	ENST00000564288.1	+	76	19598	c.18821T>C	c.(18820-18822)cTt>cCt	p.L6274P	MACF1_ENST00000539005.1_Missense_Mutation_p.L4085P|MACF1_ENST00000289893.4_Missense_Mutation_p.L4717P|MACF1_ENST00000317713.7_Missense_Mutation_p.L4215P|MACF1_ENST00000361689.2_Missense_Mutation_p.L4215P|MACF1_ENST00000372915.3_Missense_Mutation_p.L6173P|MACF1_ENST00000567887.1_Missense_Mutation_p.L6311P|MACF1_ENST00000545844.1_Missense_Mutation_p.L4215P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6283					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAGAAGCTTAATCACCAG	0.388000													5	80					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703870	68703870	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68703870A>G	ENST00000255078.3	+	13	2033	c.1922A>G	c.(1921-1923)gAg>gGg	p.E641G		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	641					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGCCTTTGAGTATCTTGAC	0.537000													35	143					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103440208	103440208	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103440208G>A	ENST00000376004.4	-	8	1695	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	453						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATAATAACAGAATATGTCAT	0.313000													20	32					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419752	105419752	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105419752T>C	ENST00000333244.5	-	7	2155	c.2036A>G	c.(2035-2037)aAg>aGg	p.K679R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	679						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTTGAACTTGGGCATTTT	0.498000													8	266					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145601612	145601612	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145601612T>A	ENST00000334163.3	-	7	954	c.794A>T	c.(793-795)gAg>gTg	p.E265V	POLR3C_ENST00000369294.1_Missense_Mutation_p.E265V|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	265					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCGCACAATCTCGCTGCTTGT	0.448000													13	39					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76982380	76982380	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76982380A>G	ENST00000315938.4	-	5	516	c.266T>C	c.(265-267)tTc>tCc	p.F89S	GDPD4_ENST00000376217.2_Missense_Mutation_p.F89S	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	89					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TTCTTTCCAGAATTTGCATAT	0.423000													11	74					0	0	1	0	0
RPS15	6209	broad.mit.edu	37	19	1440440	1440440	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1440440C>T	ENST00000591804.2	+	5	644	c.318C>T	c.(316-318)tcC>tcT	p.S106S	RPS15_ENST00000233609.4_Silent_p.S112S|RPS15_ENST00000591032.1_Silent_p.S106S|RPS15_ENST00000586686.2_Silent_p.S139S|RPS15_ENST00000586096.2_3'UTR|RPS15_ENST00000589656.2_Silent_p.S135S|RPS15_ENST00000585665.1_Silent_p.S106S|RPS15_ENST00000593052.1_Silent_p.S146S			P62841	RS15_HUMAN	ribosomal protein S15	139					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACTCCTCCCGCTTCATCC	0.612000													26	45					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100607563	100607563	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100607563G>A	ENST00000402714.2	+	12	1739	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	EVL_ENST00000392920.3_Missense_Mutation_p.D381N			Q9UI08	EVL_HUMAN	Enah/Vasp-like	379	EVH2 block C.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGATGCCTTCGACTTGGACCG	0.637000													36	45					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661397	77661397	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77661397G>A	ENST00000296043.6	+	5	3024	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	691					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTACCCCGGGGGCAGGCCCAC	0.622000													86	52					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116080791	116080791	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:116080791C>T	ENST00000374193.4	-	10	1153	c.907G>A	c.(907-909)Gat>Aat	p.D303N	WDR31_ENST00000374195.3_Missense_Mutation_p.D178N|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.D302N	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	303										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						ACCTTGCAATCATGTGATGAG	0.423000													18	43					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101926380	101926380	+	Nonstop_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:101926380T>C	ENST00000437600.4	+	23	2381	c.2029T>C	c.(2029-2031)Tga>Cga	p.*677R	CUX1_ENST00000393824.3_Nonstop_Mutation_p.*640R|CUX1_ENST00000425244.2_Nonstop_Mutation_p.*633R|CUX1_ENST00000547394.2_Nonstop_Mutation_p.*663R|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Nonstop_Mutation_p.*679R	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					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						CTTGTGGCAGTGATACCCCGG	0.617000													11	29					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47462061	47462061	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47462061C>T	ENST00000265565.5	-	12	1958	c.1546G>A	c.(1546-1548)Gca>Aca	p.A516T	SCAP_ENST00000545718.1_Missense_Mutation_p.A124T|SCAP_ENST00000441517.2_Missense_Mutation_p.A261T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	516					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)		AGGCGCTGTGCCAGGCGGGTG	0.652000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	4					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35616133	35616133	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35616133C>T	ENST00000310123.3	-	9	2097	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	526						extracellular region		p.Q526H(1)		endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCTGGTAGATCTGTGTGGGGC	0.657000													40	43					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47953434	47953434	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47953434C>T	ENST00000402813.3	-	4	521	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CNGA1_ENST00000544810.1_Missense_Mutation_p.E58K|CNGA1_ENST00000514170.1_Missense_Mutation_p.E58K|CNGA1_ENST00000358519.4_Missense_Mutation_p.E58K|CNGA1_ENST00000420489.2_Missense_Mutation_p.E58K			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	58					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGAGGGTTTTCATTCTCTGAT	0.438000													8	28					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5969004	5969004	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:5969004T>G	ENST00000399933.3	-	3	1226	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E409D	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	409										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGGATTAACTTCTCCAAGAA	0.383000													3	17					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44698859	44698859	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44698859G>A	ENST00000290231.6	-	3	519	c.355C>T	c.(355-357)Cct>Tct	p.P119S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	119	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGTACATAGGATCTCGGGAG	0.413000													29	12					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891601	62891601	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:62891601A>C	ENST00000308824.6	+	2	410	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	PCMTD2_ENST00000369758.3_Missense_Mutation_p.S95R|PCMTD2_ENST00000299468.7_Missense_Mutation_p.S95R	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	95						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGGTATCTCAGCTCCATGGT	0.527000													7	106					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116595298	116595298	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:116595298T>A	ENST00000369248.4	+	4	632	c.297T>A	c.(295-297)tgT>tgA	p.C99*	FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.C99*	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	99										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATACCCAGTGTCCTCCGGGAA	0.418000													14	16					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824018	146824018	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:146824018G>A	ENST00000508784.1	-	2	620	c.393C>T	c.(391-393)tcC>tcT	p.S131S	ZNF827_ENST00000379448.4_Silent_p.S131S|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGAGTTTGAGGGAACCAGCCT	0.592000													11	26					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227381561	227381561	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:227381561T>G	ENST00000366769.3	-	5	1816	c.525A>C	c.(523-525)gaA>gaC	p.E175D	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E175D|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E175D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E175D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E175D|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E175D|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E175D	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	175	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAGCCATATCTTCAGGCAATC	0.368000													8	61					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54184190	54184190	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:54184190G>A	ENST00000375180.2	-	3	1017	c.961C>T	c.(961-963)Cca>Tca	p.P321S	FAM120C_ENST00000328235.4_Missense_Mutation_p.P321S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	321										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCCTCATCTGGGAGGATGTGG	0.433000													17	0					0	0	1	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877924	106877924	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106877924C>T	ENST00000390619.2	-	0	119																											TGGGACAGGACCCCTGTGAAC	0.597000													6	43					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34485444	34485444	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:34485444G>A	ENST00000242317.4	+	4	361	c.190G>A	c.(190-192)Gag>Aag	p.E64K	DNAI1_ENST00000488369.1_3'UTR|DNAI1_ENST00000545019.1_Missense_Mutation_p.E64K	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	64					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GGAGTTAAAGGAGGAGTTCAC	0.502000									Kartagener syndrome				16	25					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444260	20444260	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20444260C>T	ENST00000305051.5	+	1	658	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTTGTGGTCCTAATAAGGT	0.438000													66	54					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853581	23853581	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23853581G>A	ENST00000218867.3	+	5	593	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	SGCG_ENST00000545013.1_Missense_Mutation_p.E157K|SGCG_ENST00000537476.1_Missense_Mutation_p.E157K	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	157					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATGAGAAGGAAGTTGTGGT	0.393000													5	20					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41020921	41020921	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:41020921T>C	ENST00000267868.3	+	7	811	c.543T>C	c.(541-543)tcT>tcC	p.S181S	RAD51_ENST00000382643.3_Silent_p.S182S|RAD51_ENST00000423169.2_Silent_p.S181S|RAD51_ENST00000532743.1_Silent_p.S182S|RAD51_ENST00000557850.1_Silent_p.S84S	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	181					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		ATGGTCTCTCTGGCAGTGATG	0.443000								Homologous recombination					58	76					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152544864	152544864	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152544864A>G	ENST00000397345.3	-	25	2559	c.2357T>C	c.(2356-2358)aTa>aCa	p.I786T	NEB_ENST00000603639.1_Missense_Mutation_p.I786T|NEB_ENST00000172853.10_Missense_Mutation_p.I786T|NEB_ENST00000604864.1_Missense_Mutation_p.I786T|NEB_ENST00000427231.2_Missense_Mutation_p.I786T|NEB_ENST00000409198.1_Missense_Mutation_p.I786T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	786					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTGCTGGTATATGGCACTT	0.383000													4	34					0	0	1	0	0
ARFIP2	23647	broad.mit.edu	37	11	6501237	6501237	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6501237C>T	ENST00000254584.2	-	3	244	c.161G>A	c.(160-162)gGc>gAc	p.G54D	ARFIP2_ENST00000396777.3_Missense_Mutation_p.G54D|ARFIP2_ENST00000423813.2_Missense_Mutation_p.G16D|ARFIP2_ENST00000525235.1_Missense_Mutation_p.G54D|ARFIP2_ENST00000445086.2_Missense_Mutation_p.A9T	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	54					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCCCATAGCCACCAGACAC	0.527000													90	95					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183655807	183655807	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183655807A>C	ENST00000334444.6	-	26	3976	c.3736T>G	c.(3736-3738)Tta>Gta	p.L1246V	ABCC5_ENST00000265586.6_Missense_Mutation_p.L1203V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1246	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCCAGATAACTCCACCAGA	0.517000													18	112					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43890867	43890867	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43890867C>T	ENST00000562955.1	+	18	2634	c.2634C>T	c.(2632-2634)tcC>tcT	p.S878S	SZT2_ENST00000372442.1_Silent_p.S36S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	878						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCTACCTCCACCAAAGACA	0.572000													20	51					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200143225	200143225	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200143225G>A	ENST00000367362.3	+	8	1759	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	NR5A2_ENST00000544748.1_Missense_Mutation_p.E433K|NR5A2_ENST00000236914.3_Missense_Mutation_p.E459K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	505					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCGACTACCCGAAATCCGGGC	0.488000													25	21					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1902911	1902911	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1902911C>T	ENST00000503128.1	+	2	737	c.530C>T	c.(529-531)tCc>tTc	p.S177F	WHSC1_ENST00000508803.1_Missense_Mutation_p.S177F|WHSC1_ENST00000382892.2_Missense_Mutation_p.S177F|WHSC1_ENST00000436793.1_Missense_Mutation_p.S177F|WHSC1_ENST00000382891.5_Missense_Mutation_p.S177F|WHSC1_ENST00000398261.1_Missense_Mutation_p.S177F|WHSC1_ENST00000382895.3_Missense_Mutation_p.S177F|WHSC1_ENST00000514045.1_Missense_Mutation_p.S177F|WHSC1_ENST00000420906.2_Missense_Mutation_p.S177F			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	177					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAATATGACTCCTTGCTGGAG	0.453000			T	IGH@	MM								34	3					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18138461	18138461	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18138461C>T	ENST00000316843.4	+	10	1215	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	373					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGGTGCTGGACCTGCAGACTC	0.647000													32	33					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148515131	148515131	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148515131T>C	ENST00000320356.2	-	10	1199	c.1078A>G	c.(1078-1080)Aga>Gga	p.R360G	EZH2_ENST00000536783.1_3'UTR|EZH2_ENST00000483967.1_Missense_Mutation_p.R346G|EZH2_ENST00000478654.1_Missense_Mutation_p.R346G|EZH2_ENST00000541220.1_Missense_Mutation_p.R346G|EZH2_ENST00000476773.1_Missense_Mutation_p.R346G|EZH2_ENST00000460911.1_Missense_Mutation_p.R355G|EZH2_ENST00000350995.2_Missense_Mutation_p.R316G	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	355					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGCCGTCCTCTTCTGCGGCCT	0.522000			Mis		DLBCL								5	111					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91409504	91409504	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91409504T>G	ENST00000261991.3	-	5	709	c.536A>C	c.(535-537)aAg>aCg	p.K179T	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.K179T|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.K100T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	179	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATTCTCAAGCTTAATATCACG	0.313000													5	57					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74867171	74867171	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74867171G>A	ENST00000290536.5	-	2	348	c.232C>T	c.(232-234)Cct>Tct	p.P78S	M1AP_ENST00000409585.1_Missense_Mutation_p.P78S|M1AP_ENST00000536235.1_Missense_Mutation_p.P78S|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		ACCACAAAAGGGAGGATGCAC	0.403000													30	21					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853560	182853560	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182853560T>G	ENST00000265598.3	-	5	1317	c.1062A>C	c.(1060-1062)aaA>aaC	p.K354N	LAMP3_ENST00000466939.1_Missense_Mutation_p.K330N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	354					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CATCGGTTGTTTTCACCTGCA	0.473000													85	411					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002225	98002225	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:98002225A>T	ENST00000355273.2	+	1	494	c.494A>T	c.(493-495)gAa>gTa	p.E165V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTAATTCATGAAGTCCTTATA	0.348000													13	11					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14862289	14862289	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14862289A>C	ENST00000315576.3	-	16	2434	c.1983T>G	c.(1981-1983)atT>atG	p.I661M	EMR2_ENST00000346057.1_Missense_Mutation_p.I612M|EMR2_ENST00000594076.1_Missense_Mutation_p.I568M|EMR2_ENST00000596991.2_Missense_Mutation_p.I650M|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000353876.1_Missense_Mutation_p.I568M|EMR2_ENST00000392967.2_Missense_Mutation_p.I650M|EMR2_ENST00000353005.1_Missense_Mutation_p.I519M|EMR2_ENST00000595839.1_Missense_Mutation_p.I519M|EMR2_ENST00000594294.1_Missense_Mutation_p.I612M|EMR2_ENST00000392965.3_Missense_Mutation_p.I603M|EMR2_ENST00000601345.1_Missense_Mutation_p.I650M	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	661					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGGCTGCAGAAATGGCCACTG	0.507000													21	49					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803008	144803008	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144803008G>A	ENST00000338033.4	+	9	1034	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	305					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTACGTGCAGAGGTGGGGGT	0.677000													14	20					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29606101	29606101	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29606101C>T	ENST00000356870.3	+	10	1807	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	PTPRU_ENST00000460170.2_Missense_Mutation_p.S566F|PTPRU_ENST00000373779.3_Missense_Mutation_p.S566F|PTPRU_ENST00000345512.3_Missense_Mutation_p.S566F|PTPRU_ENST00000323874.8_Missense_Mutation_p.S566F|PTPRU_ENST00000428026.2_Missense_Mutation_p.S566F|PTPRU_ENST00000415600.2_3'UTR	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	566	Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TACCTGTTCTCCGTGCGGGCC	0.617000													147	104					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911056	139911056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139911056G>A	ENST00000265662.5	-	20	3040	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*	ABCA2_ENST00000341511.6_Nonsense_Mutation_p.Q965*|ABCA2_ENST00000371605.3_Nonsense_Mutation_p.Q964*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	964					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACAGGCCTGGTCCTCCTCC	0.677000													39	26					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148368	69148368	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:69148368G>A	ENST00000306560.1	+	4	1017	c.861G>A	c.(859-861)ttG>ttA	p.L287L	HAS3_ENST00000569188.1_Silent_p.L287L|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	287					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGGGCCCTTGGGCATGTACC	0.587000													43	4					0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124909093	124909093	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:124909093C>T	ENST00000339992.3	+	2	533	c.276C>T	c.(274-276)ccC>ccT	p.P92P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	92					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P92P(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGGTACCCCCAAGGGCAGCG	0.642000													20	34					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142190900	142190900	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142190900C>T	ENST00000519811.1	+	17	2961	c.2891C>T	c.(2890-2892)cCc>cTc	p.P964L	DENND3_ENST00000262585.2_Missense_Mutation_p.P884L|DENND3_ENST00000424248.1_Missense_Mutation_p.P832L|DENND3_ENST00000518806.1_3'UTR			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	884										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAAATCAACCCCTCGGCGGGG	0.572000													13	48					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458520	112458520	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112458520C>T	ENST00000302475.4	-	4	881	c.318G>A	c.(316-318)gaG>gaA	p.E106E	MCC_ENST00000515367.2_Silent_p.E43E|MCC_ENST00000408903.3_Silent_p.E296E|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	106					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTCATCTTCCTCCCTGAGAA	0.458000													13	24					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063816	73063816	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73063816C>T	ENST00000429829.1	-	0	8772					NR_001564.2																						AACAGTATACCCCACAGTAAT	0.383000													14	1					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59837684	59837684	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59837684C>T	ENST00000278865.3	+	7	696	c.623C>T	c.(622-624)tCc>tTc	p.S208F	MS4A3_ENST00000395032.2_Missense_Mutation_p.S85F|MS4A3_ENST00000534744.1_Missense_Mutation_p.S162F|MS4A3_ENST00000358152.2_Missense_Mutation_p.S162F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	208						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TAGGAAATTTCCTCACCTCCC	0.373000													10	23					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959920	92959920	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92959920A>C	ENST00000532405.1	+	17	2043	c.1817A>C	c.(1816-1818)gAg>gCg	p.E606A	SLC24A4_ENST00000393265.2_Missense_Mutation_p.E542A|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E589A|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E587A|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E570A			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	606						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATAATGATAGAGTTTAACGTC	0.547000													9	37					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781141	38781141	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38781141T>G	ENST00000449082.2	-	14	2144	c.2145A>C	c.(2143-2145)aaA>aaC	p.K715N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	715					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGCAATGATTTTGAAGACCA	0.433000													4	27					0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109535528	109535528	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:109535528C>T	ENST00000242576.2	+	1	150	c.44C>T	c.(43-45)cCc>cTc	p.P15L		NM_080911.2	NP_550433.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	15					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCCCCCAGCCCCGCCAGGAAG	0.716000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				6	0					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368839	22368839	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22368839G>C	ENST00000332663.2	+	1	362	c.264G>C	c.(262-264)gaG>gaC	p.E88D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTTGTGGAGAGGAAGATAA	0.443000													67	213					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291302	61291302	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61291302A>C	ENST00000263846.4	-	7	1231	c.904T>G	c.(904-906)Tca>Gca	p.S302A	SYT7_ENST00000542670.1_Missense_Mutation_p.S510A|SYT7_ENST00000539008.1_Missense_Mutation_p.S585A|SYT7_ENST00000542836.1_Missense_Mutation_p.S346A|SYT7_ENST00000535826.1_Missense_Mutation_p.S421A|SYT7_ENST00000540677.1_Missense_Mutation_p.S377A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	302	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCGTACCTGATGTGCCCCCG	0.592000													73	318					0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22081824	22081824	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22081824C>T	ENST00000454243.2	-	4	947	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PHYHIP_ENST00000321613.3_Missense_Mutation_p.E125K	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	125										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TCAGCTTTCTCCTGAAGCTGA	0.592000													26	29					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571406	30571406	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30571406A>G	ENST00000376511.2	-	16	2162	c.1610T>C	c.(1609-1611)cTg>cCg	p.L537P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	537	Interaction with WDR82 (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						CCCAGGTTCCAGAGTCTCAAC	0.498000													4	167					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76805839	76805839	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:76805839C>T	ENST00000286719.7	-	8	1010	c.654G>A	c.(652-654)gaG>gaA	p.E218E		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	218	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCATCAGGATCTCTACTGAAT	0.458000													102	50					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278783	92278783	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92278783A>C	ENST00000435962.2	-	3	497	c.174T>G	c.(172-174)acT>acG	p.T58T	TC2N_ENST00000340892.5_Silent_p.T58T|TC2N_ENST00000360594.5_Silent_p.T58T|TC2N_ENST00000556018.1_Silent_p.T58T	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	58						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AATAATCCTCAGTACAGCCAA	0.393000													9	37					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882555	228882555	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228882555C>T	ENST00000392056.3	-	7	3061	c.3015G>A	c.(3013-3015)agG>agA	p.R1005R	SPHKAP_ENST00000344657.5_Silent_p.R1005R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1005						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGTCCGTCTTCCTCTTGATCT	0.522000													19	57					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767487	105767487	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:105767487G>A	ENST00000374798.3	+	5	644	c.574G>A	c.(574-576)Gat>Aat	p.D192N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D192N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	192	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				taacaaaaaagataaaaagga	0.358000													4	28					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988680	137988680	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:137988680C>T	ENST00000409968.1	+	8	1968	c.1790C>T	c.(1789-1791)cCc>cTc	p.P597L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P566L|THSD7B_ENST00000272643.3_Missense_Mutation_p.P597L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTGAAATTCCCTGCCGAATG	0.483000													5	26					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548726	28548726	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:28548726T>C	ENST00000401766.2	-	2	763	c.251A>G	c.(250-252)aAg>aGg	p.K84R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.K84R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	84					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATCCACCTTCTTGCCCCAGGT	0.562000													28	66					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674660	4674660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4674660C>T	ENST00000396952.5	+	2	1554	c.904C>T	c.(904-906)Cga>Tga	p.R302*	OR51E1_ENST00000530215.1_3'UTR	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGAGATTCGACAGCGCAT	0.507000													59	62					0	0	1	0	0
NIFK	84365	broad.mit.edu	37	2	122488508	122488508	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:122488508T>A	ENST00000285814.4	-	4	597	c.525A>T	c.(523-525)aaA>aaT	p.K175N		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		175					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TTTTAGCTAATTTCTTCCTGA	0.383000													9	39					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8159395	8159395	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8159395T>G	ENST00000600128.1	-	47	6254	c.5840A>C	c.(5839-5841)aAc>aCc	p.N1947T	FBN3_ENST00000270509.2_Missense_Mutation_p.N1947T|FBN3_ENST00000601739.1_Missense_Mutation_p.N1947T			Q75N90	FBN3_HUMAN	fibrillin 3	1947	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCTCGAGGTTCTGGCAAGT	0.602000													10	26					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978004	138978004	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138978004T>C	ENST00000288561.8	+	16	3696	c.3447T>C	c.(3445-3447)gcT>gcC	p.A1149A	UBN2_ENST00000473989.2_Silent_p.A1232A	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1232	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CATTATTGGCTAATGCCTCAC	0.418000													5	78					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6565393	6565393	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6565393G>A	ENST00000321612.6	-	16	2037	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	GLDC_ENST00000460457.1_5'UTR	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	629					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGTAGGCTCGGATAGTGGCCA	0.532000													30	77					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18529286	18529286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:18529286C>T	ENST00000336714.3	+	16	2209	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	SEC23B_ENST00000377475.3_Nonsense_Mutation_p.Q593*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.Q593*|SEC23B_ENST00000262544.2_Nonsense_Mutation_p.Q593*	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	593					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCCATTTCTTCAAGTGTTTAA	0.423000													6	26					0	0	1	0	0
CALM1	801	broad.mit.edu	37	14	90870297	90870297	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:90870297C>T	ENST00000356978.4	+	4	518	c.270C>T	c.(268-270)ttC>ttT	p.F90F	CALM1_ENST00000553542.1_Silent_p.F54F|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Silent_p.F54F|CALM1_ENST00000447653.3_Silent_p.F91F	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	90	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GTGAGGCATTCCGAGTCTTTG	0.378000													27	39					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600167	58600167	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58600167A>C	ENST00000240727.6	-	3	840	c.441T>G	c.(439-441)atT>atG	p.I147M	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.I12M|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.I203M|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.I147M	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	147					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CATCGCTAAGAATTGAGGATG	0.622000													20	114					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18186629	18186629	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18186629G>A	ENST00000600835.1	-	8	933	c.630C>T	c.(628-630)ctC>ctT	p.L210L	IL12RB1_ENST00000430026.2_Silent_p.L210L|IL12RB1_ENST00000593993.1_Silent_p.L210L|IL12RB1_ENST00000322153.6_Silent_p.L210L			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	210	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCCGTCGTCGGAGCTGGAATT	0.602000													30	95					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84520383	84520383	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:84520383G>A	ENST00000343629.6	-	5	994	c.812C>T	c.(811-813)tCg>tTg	p.S271L	TLDC1_ENST00000535580.1_Missense_Mutation_p.S244L	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		GAGCTCAGACGAAAAGAGCAG	0.597000													22	4					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24268122	24268122	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24268122G>A	ENST00000005284.3	+	1	1249	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	16					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACCACTGTAGGAGCCTTTGCC	0.483000													64	55					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960647	150960647	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150960647G>A	ENST00000368947.4	+	11	1254	c.778G>A	c.(778-780)Gct>Act	p.A260T		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	260					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTCAGGTGGCTCTGCTCGG	0.547000													52	40					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110402868	110402868	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110402868A>G	ENST00000265175.5	+	4	1151	c.1096A>G	c.(1096-1098)Agc>Ggc	p.S366G	SEC24B_ENST00000504968.2_Missense_Mutation_p.S397G|SEC24B_ENST00000399100.2_Intron	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	366					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)		TAACCAAGCTAGCTCCGCACC	0.428000													33	103					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108955408	108955408	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:108955408G>A	ENST00000505878.1	+	9	1125	c.852G>A	c.(850-852)atG>atA	p.M284I	HADH_ENST00000403312.1_Missense_Mutation_p.M356I|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000309522.3_Missense_Mutation_p.M280I|HADH_ENST00000603302.1_Missense_Mutation_p.M297I|HADH_ENST00000454409.2_Missense_Mutation_p.M284I			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	280					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GGCATGAAATGGATGCAGAGA	0.458000													36	83					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607704	42607704	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:42607704G>A	ENST00000359486.3	-	1	3744	c.3608C>T	c.(3607-3609)cCt>cTt	p.P1203L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1203L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATTCCTGGAGGACCGCTGCT	0.498000													43	43					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684010	100684010	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100684010A>G	ENST00000306151.4	+	3	9377	c.9313A>G	c.(9313-9315)Act>Gct	p.T3105A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3105	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAAGGAAGCACTCCATTAAC	0.502000													68	391					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468694	56468694	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:56468694G>A	ENST00000288221.6	-	2	597	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	114						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTATGAAAGGACATCTGTGT	0.522000													69	45					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2381052	2381052	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:2381052C>T	ENST00000202625.2	+	7	1012	c.951C>T	c.(949-951)ttC>ttT	p.F317F	TGM6_ENST00000381423.1_Silent_p.F317F|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	317					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGACTCCTTCGGGCGGACCC	0.617000													38	52					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782228	34782228	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34782228G>A	ENST00000338074.2	+	12	1556	c.1395G>A	c.(1393-1395)cgG>cgA	p.R465R	EPB41L1_ENST00000373946.3_Silent_p.R434R|EPB41L1_ENST00000373950.2_Silent_p.R368R|EPB41L1_ENST00000373941.1_Silent_p.R465R|EPB41L1_ENST00000202028.5_Silent_p.R403R|EPB41L1_ENST00000441639.1_Silent_p.R403R	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	465					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGGGGCAACGGTCAGAGGCTG	0.602000													15	12					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27560379	27560379	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27560379A>C	ENST00000359541.2	-	6	1426	c.997T>G	c.(997-999)Tta>Gta	p.L333V	AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000589232.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.L333V|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	333						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCAGGCTAAAGGAATCCAC	0.483000													5	55					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380743	56380743	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56380743G>A	ENST00000526538.1	-	1	235	c.236C>T	c.(235-237)cCa>cTa	p.P79L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CAGCATATTTGGAGTAACATT	0.458000													62	56					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77273828	77273828	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77273828T>G	ENST00000251089.2	-	4	1006	c.894A>C	c.(892-894)gaA>gaC	p.E298D		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	298										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTTCCTGGACTTCCTGGAGAC	0.532000													9	21					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466069	110466069	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110466069G>A	ENST00000329608.6	+	6	1217	c.826G>A	c.(826-828)Ggc>Agc	p.G276S	CSF1_ENST00000344188.5_Missense_Mutation_p.G276S|CSF1_ENST00000369801.1_Missense_Mutation_p.G276S|CSF1_ENST00000369802.3_Missense_Mutation_p.G276S|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	276					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CACCATCGGTGGCTCACCACA	0.612000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	64					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8416190	8416190	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:8416190C>T	ENST00000337907.3	-	22	5090	c.4456G>A	c.(4456-4458)Gag>Aag	p.E1486K	RERE_ENST00000476556.1_Missense_Mutation_p.E932K|RERE_ENST00000400908.2_Missense_Mutation_p.E1486K|RERE_ENST00000377464.1_Missense_Mutation_p.E1218K|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1486	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATCTCGTGCTCGTGTGGGGGC	0.662000													157	111					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159146558	159146558	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:159146558G>A	ENST00000297239.9	+	10	938	c.744G>A	c.(742-744)ctG>ctA	p.L248L	SYTL3_ENST00000360448.3_Silent_p.L180L|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	248					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CAGATATTCTGAAACCTCTCA	0.423000													72	7					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34596321	34596321	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34596321T>C	ENST00000373973.3	+	9	1246	c.1073T>C	c.(1072-1074)cTa>cCa	p.L358P	CNBD2_ENST00000349339.1_Missense_Mutation_p.L358P|CNBD2_ENST00000538900.1_Missense_Mutation_p.L358P					cyclic nucleotide binding domain containing 2																		GCCTGGGGGCTACAGGGGACA	0.483000													11	67					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674284	4674284	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4674284C>T	ENST00000396952.5	+	2	1178	c.528C>T	c.(526-528)atC>atT	p.I176I	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCCAATATCCTTTCCCATT	0.542000													100	101					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114766406	114766406	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:114766406A>G	ENST00000334062.7	-	19	1866	c.1745T>C	c.(1744-1746)tTc>tCc	p.F582S	RASA3_ENST00000389544.4_Missense_Mutation_p.F550S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	582	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTTGATCATGAACCTGTGTGA	0.532000													15	54					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113651089	113651089	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113651089A>G	ENST00000297405.5	-	21	3606	c.3362T>C	c.(3361-3363)tTa>tCa	p.L1121S	CSMD3_ENST00000352409.3_Missense_Mutation_p.L1121S|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1017S|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1081S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1121	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGATCAGTAAGTAGTCATG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	26					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391484	125391484	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125391484C>T	ENST00000304833.3	-	1	368	c.331G>A	c.(331-333)Gtt>Att	p.V111I	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTATCTGTAACCCCAAATGCA	0.502000													22	9					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499702	18499702	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18499702C>T	ENST00000433979.1	+	11	1673	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	PIK3C2G_ENST00000538779.1_Silent_p.P519P|PIK3C2G_ENST00000535651.1_Silent_p.P519P|PIK3C2G_ENST00000266497.5_Silent_p.P519P	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	519					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCTAAATCCCGGGCTTCCTT	0.443000													26	22					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17430032	17430032	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17430032C>T	ENST00000302539.4	-	23	2855	c.2730G>A	c.(2728-2730)agG>agA	p.R910R	ABCC8_ENST00000389817.3_Silent_p.R909R	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	909	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGTACCCTCCCTCTGGATGG	0.547000													45	72					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710580	28710580	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28710580G>A	ENST00000257198.5	-	16	2843	c.2582C>T	c.(2581-2583)tCa>tTa	p.S861L	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	861					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAACCTACTGAGCCGGCCAG	0.443000													71	5					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17140837	17140837	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17140837G>A	ENST00000265970.7	-	16	2869	c.2870C>T	c.(2869-2871)tCc>tTc	p.S957F	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.S577F	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	957					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CACAGCTAGGGATCTTACTTC	0.378000													24	28					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989330	53989330	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:53989330G>A	ENST00000514921.1	+	3	392	c.279G>A	c.(277-279)gcG>gcA	p.A93A	MLIP_ENST00000502396.1_Silent_p.A104A|MLIP_ENST00000274897.5_Silent_p.A93A|MLIP_ENST00000358276.5_Silent_p.A87A|MLIP_ENST00000370877.2_Silent_p.A41A|MLIP_ENST00000370876.2_Silent_p.A31A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Silent_p.A41A			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	93						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GAGACCAAGCGAAATTGACTT	0.403000													30	40					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907094	101907094	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:101907094T>C	ENST00000374994.4	+	6	1171	c.1054T>C	c.(1054-1056)Tta>Cta	p.L352L	TGFBR1_ENST00000550253.1_Silent_p.L283L|TGFBR1_ENST00000374990.2_Silent_p.L275L|TGFBR1_ENST00000552516.1_Silent_p.L356L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	352	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TATTGCAGACTTAGGACTGGC	0.353000													13	54					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929222	49929222	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49929222A>C	ENST00000296474.3	-	15	3348	c.3321T>G	c.(3319-3321)aaT>aaG	p.N1107K	MST1R_ENST00000344206.4_Missense_Mutation_p.N1058K	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1107	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATTGGATTCGATTCTGGGCCT	0.537000													25	102					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534134	55534134	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55534134G>A	ENST00000220676.1	+	2	756	c.608G>A	c.(607-609)gGa>gAa	p.G203E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	203	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTACGGACGGAAGGAGGGTG	0.577000													61	88					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83180398	83180398	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:83180398C>T	ENST00000398309.2	-	20	2620	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q	DLG2_ENST00000426717.2_Missense_Mutation_p.R181Q|DLG2_ENST00000537455.1_Missense_Mutation_p.R467Q|DLG2_ENST00000418306.2_Missense_Mutation_p.R596Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R822Q|DLG2_ENST00000404783.3_Missense_Mutation_p.R195Q|DLG2_ENST00000280241.8_Missense_Mutation_p.R756Q|DLG2_ENST00000543673.1_Missense_Mutation_p.R822Q|DLG2_ENST00000531015.1_Missense_Mutation_p.R684Q|DLG2_ENST00000532653.1_Missense_Mutation_p.R699Q|DLG2_ENST00000330014.6_Missense_Mutation_p.R638Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R713Q|DLG2_ENST00000376106.3_Missense_Mutation_p.R181Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	717	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTCGTAGTCTCGCTTTGGCCT	0.388000													22	75					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450446	55450446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55450446C>A	ENST00000446217.1	-	6	2227	c.1825G>T	c.(1825-1827)Gag>Tag	p.E609*	NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E581*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E581*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E581*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E581*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.E581*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.E581*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	581							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCAGCTCCTCCTCCTGAGAC	0.493000													30	59					3.90053e-15	3.92886e-15	1	1	0
PARN	5073	broad.mit.edu	37	16	14704535	14704535	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:14704535G>A	ENST00000437198.2	-	7	661	c.520C>T	c.(520-522)Cct>Tct	p.P174S	PARN_ENST00000566021.1_5'UTR|PARN_ENST00000539279.1_Intron|PARN_ENST00000420015.2_Missense_Mutation_p.P128S|PARN_ENST00000341484.7_Missense_Mutation_p.P113S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	174					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGATCCTCAGGAATCGTGACA	0.403000													66	45					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693199	30693199	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:30693199C>T	ENST00000471646.1	-	12	1530	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Silent_p.R357R|CRHR2_ENST00000348438.4_Silent_p.R398R	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	371					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCACCTCTTCCTCACGGCTG	0.637000													30	84					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676712	7676712	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7676712A>G	ENST00000446248.2	+	13	1515	c.1414A>G	c.(1414-1416)Acc>Gcc	p.T472A	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.T445A	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	445	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGGCCAGGACCCCCACCCA	0.706000													6	28					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31105715	31105715	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31105715G>A	ENST00000394971.3	-	1	155	c.108C>T	c.(106-108)ttC>ttT	p.F36F	VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000300851.6_Intron|RP11-196G11.1_ENST00000529564.1_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CTCTTATTTCGAACACCAGTA	0.602000													13	50					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29041249	29041249	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29041249A>G	ENST00000373816.1	+	10	1794	c.1656A>G	c.(1654-1656)caA>caG	p.Q552Q	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.Q552Q|GMEB1_ENST00000294409.2_Silent_p.Q562Q	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCATCAAGTTCACAATG	0.418000													17	91					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528866	77528866	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:77528866A>C	ENST00000477717.1	+	5	1221	c.986A>C	c.(985-987)cAt>cCt	p.H329P		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	329					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCTATAAATCATCCTGAGAAT	0.433000													15	48					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43376194	43376194	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43376194T>C	ENST00000244296.2	-	3	571	c.434A>G	c.(433-435)gAg>gGg	p.E145G	PSG1_ENST00000595356.1_Missense_Mutation_p.E145G|PSG1_ENST00000436291.2_Missense_Mutation_p.E145G|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.E145G	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1									p.E145G(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTTAGGAGTCTCCACTGTGCA	0.522000													13	159					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30522672	30522672	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30522672G>A	ENST00000376621.3	-	4	1367	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	133					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTCCAAGGAGGACGTCGAGGA	0.488000													23	37					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588412	28588412	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28588412G>A	ENST00000434452.1	-	10	1497	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	DSC3_ENST00000360428.4_Missense_Mutation_p.P448L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	448	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCACTCTGGGAATATCTCT	0.438000													30	1					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230849	7230849	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7230849T>C	ENST00000379938.2	+	10	3054	c.2517T>C	c.(2515-2517)gcT>gcC	p.A839A	RREB1_ENST00000349384.6_Silent_p.A839A|RREB1_ENST00000334984.6_Silent_p.A839A|RREB1_ENST00000379933.3_Silent_p.A839A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	839					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGCCGGCCGCTGAGGCGTCGG	0.692000													4	13					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689344	49689344	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49689344A>C	ENST00000296452.4	+	5	2469	c.2355A>C	c.(2353-2355)gaA>gaC	p.E785D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	785					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAAGACGAAGACTCTGCTG	0.592000													15	20					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421727	31421727	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31421727C>T	ENST00000389202.2	+	11	1144	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	365					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCCTCTTCCTGGGGGCTG	0.577000													34	62					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780589	94780589	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94780589G>A	ENST00000341584.3	-	2	543	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	133					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CTGCCATCAAGAAACAAGGCA	0.502000													38	34					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33132170	33132170	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33132170G>A	ENST00000341947.2	-	65	5171	c.4944C>T	c.(4942-4944)caC>caT	p.H1648H	COL11A2_ENST00000374714.1_Silent_p.H1622H|COL11A2_ENST00000374712.1_Silent_p.H1567H|COL11A2_ENST00000395197.1_Silent_p.H1588H|COL11A2_ENST00000374713.1_Silent_p.H1601H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374708.4_Silent_p.H1562H|COL11A2_ENST00000357486.1_Silent_p.H1627H|COL11A2_ENST00000361917.1_Silent_p.H1541H	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1648	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGACGTCCTGGTGGGCTGAGA	0.637000													10	11					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176636	41176636	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41176636G>A	ENST00000263413.3	-	8	1373	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.S370F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	370	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.S370F(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCCTCCCAGGGAGCCAGAGGT	0.423000													11	84					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214755	161214755	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:161214755G>A	ENST00000327928.4	+	1	160	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	54						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						ACCTCCAGAAGAAGAAGAAAC	0.473000													96	2					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497384	141497384	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:141497384C>T	ENST00000264952.2	+	1	395	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	86	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGGCAACCTTCCTAGAGGACG	0.662000													55	1					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28917075	28917075	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28917075G>A	ENST00000358201.4	-	11	2029	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	RABEP2_ENST00000357573.6_Silent_p.L445L|RABEP2_ENST00000544477.1_Silent_p.L410L	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	481					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGGCTGCACAGGGAGGCTGGG	0.657000													31	12					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289809	5289809	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5289809C>T	ENST00000380237.1	-	5	678	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	HBE1_ENST00000292896.2_Missense_Mutation_p.V112M|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	112					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATAATCACCATCACGTTA	0.468000													51	94					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219605282	219605282	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219605282A>G	ENST00000392102.1	+	5	1976	c.1636A>G	c.(1636-1638)Agc>Ggc	p.S546G	TTLL4_ENST00000457313.1_Missense_Mutation_p.S381G|TTLL4_ENST00000442769.1_Missense_Mutation_p.S546G|TTLL4_ENST00000258398.4_Missense_Mutation_p.S546G	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	546					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGTCTCCCCCAGCGAATCGGT	0.438000													27	67					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222307682	222307682	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:222307682C>T	ENST00000281821.2	-	11	1982	c.1941G>A	c.(1939-1941)gaG>gaA	p.E647E	EPHA4_ENST00000409938.1_Silent_p.E647E|EPHA4_ENST00000392071.4_Silent_p.E596E|EPHA4_ENST00000409854.1_Silent_p.E647E	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	647	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCACACAGATCTCTCTCTTGC	0.468000													25	56					0	0	1	0	0
AUNIP	79000	broad.mit.edu	37	1	26161490	26161490	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26161490T>G	ENST00000374298.3	-	3	1122	c.1068A>C	c.(1066-1068)caA>caC	p.Q356H	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Intron	NM_024037.1	NP_076942.1			aurora kinase A and ninein interacting protein																		ACATTTAGAATTGGTGTCTGA	0.418000													25	203					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68580005	68580005	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68580005T>G	ENST00000265641.5	-	3	335	c.181A>C	c.(181-183)Agt>Cgt	p.S61R	CPT1A_ENST00000539743.1_Missense_Mutation_p.S61R|CPT1A_ENST00000540367.1_Missense_Mutation_p.S61R|CPT1A_ENST00000376618.2_Missense_Mutation_p.S61R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	61					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATAAGCCAACTGGAGGGGCTT	0.562000													9	48					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269664	1269664	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1269664A>G	ENST00000447027.1	+	31	11621	c.11563A>G	c.(11563-11565)Acc>Gcc	p.T3855A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3852A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3852	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			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)		CTCTGTGGCCACCCCCTCTTC	0.642000													6	127					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745168	124745168	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124745168A>C	ENST00000397801.1	+	14	2427	c.2235A>C	c.(2233-2235)caA>caC	p.Q745H	ROBO3_ENST00000538940.1_Missense_Mutation_p.Q723H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	745	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCAAGGTGCAAGCCCAAGGCC	0.577000													21	47					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640067	207640067	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207640067C>T	ENST00000367057.3	+	2	444	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CR2_ENST00000458541.2_Silent_p.F85F|CR2_ENST00000367058.3_Silent_p.F85F|CR2_ENST00000367059.3_Silent_p.F85F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	85					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGAATATTTCAATAAATATT	0.408000													34	47					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79658531	79658531	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79658531T>C	ENST00000329138.4	+	8	727	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	198					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTCCAAGTACTCCACCATCCC	0.622000													5	84					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251334	25251334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:25251334G>A	ENST00000328086.7	-	7	3510	c.2707C>T	c.(2707-2709)Cga>Tga	p.R903*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	903					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGATGTTCTCGAAATCTCGTA	0.458000													28	7					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031484	109031484	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:109031484G>A	ENST00000478945.1	-	3	335	c.89C>T	c.(88-90)cCa>cTa	p.P30L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	30						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCTTTAACTGGCACCAGTGT	0.408000													68	8					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114185969	114185969	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:114185969G>A	ENST00000297405.5	-	4	935	c.691C>T	c.(691-693)Cct>Tct	p.P231S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P231S|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.P231S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P191S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	231	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGAACAGGAAAATCCCAC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			50	47					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675980	62675980	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62675980A>G	ENST00000498273.1	+	4	1829	c.1534A>G	c.(1534-1536)Agt>Ggt	p.S512G		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	512										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AATTCCCTTTAGTTATTTGGT	0.458000													7	38					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39022606	39022606	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39022606G>A	ENST00000379907.4	+	9	851	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ADAM32_ENST00000519315.1_Missense_Mutation_p.E242K|ADAM32_ENST00000437682.2_Missense_Mutation_p.E249K	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	242	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGGTCAGATGAAAATAAGAT	0.299000													34	40					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21970211	21970211	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21970211T>C	ENST00000261200.4	-	31	3801	c.3802A>G	c.(3802-3804)Aac>Gac	p.N1268D	ABCC9_ENST00000261201.4_Missense_Mutation_p.N1268D|ABCC9_ENST00000345162.2_Missense_Mutation_p.N1232D	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1268	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAGCCAAGTTCCTCACAACC	0.388000													29	90					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39494786	39494786	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39494786G>A	ENST00000265707.5	+	8	637	c.592G>A	c.(592-594)Gat>Aat	p.D198N	ADAM18_ENST00000379866.1_Intron|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	198	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTCAGTATGATTATATGGG	0.274000													13	30					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498837	156498837	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156498837T>G	ENST00000361170.2	-	35	4452	c.4442A>C	c.(4441-4443)aAg>aCg	p.K1481T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1481					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTCTGCCTTCCGCCTGTG	0.597000													6	121					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463594	26463594	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:26463594C>T	ENST00000256737.3	+	2	1028	c.176C>T	c.(175-177)tCa>tTa	p.S59L	ANO3_ENST00000525139.1_Missense_Mutation_p.S43L|ANO3_ENST00000531646.1_Missense_Mutation_p.S59L|ANO3_ENST00000537978.1_Missense_Mutation_p.S43L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	59						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCTTCCAGTCAACCGAGAGT	0.463000													63	120					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014738	83014738	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83014738C>G	ENST00000307792.3	-	16	2214	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D523H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	583	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCAGTCTTATCCAAAGCATCC	0.363000													50	59					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51363230	51363230	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51363230T>C	ENST00000326003.2	+	5	674	c.633T>C	c.(631-633)ggT>ggC	p.G211G	KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Silent_p.G168G	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	211	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ACCCTTAGGGTGATTCTGGGG	0.527000													17	62					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437280	44437280	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44437280C>T	ENST00000255108.3	+	4	878	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.R101W|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	236					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGACCTGAGTCGGCTGCTCTT	0.622000													63	71					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57898081	57898081	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57898081A>C	ENST00000262027.5	+	11	1501	c.1368_splice	c.e11+1	p.K456_splice	MARS_ENST00000315473.5_Splice_Site_p.K222_splice|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	456					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GACCTGCCTAAGGTAAGTGAG	0.483000													20	19					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123014945	123014945	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123014945G>A	ENST00000462833.1	-	17	4261	c.3049C>T	c.(3049-3051)Ctc>Ttc	p.L1017F	ADCY5_ENST00000309879.5_Missense_Mutation_p.L667F|ADCY5_ENST00000491190.1_Missense_Mutation_p.L675F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1017					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTTTCCAGAGGAAGTCGAGG	0.642000													19	73					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212350	43212350	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43212350G>A	ENST00000255226.6	+	5	1373	c.557G>A	c.(556-558)gGg>gAg	p.G186E	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G186E	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	186						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGTACAACGGGATGCTGGTG	0.552000													57	4					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388870	1388870	+	Missense_Mutation	SNP	A	A	G	rs71299249		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1388870A>G	ENST00000324803.4	+	1	3531	c.571A>G	c.(571-573)Aca>Gca	p.T191A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	191					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCGCCTGATCACACGTGCCCA	0.657000													29	232					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45452041	45452041	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45452041A>C	ENST00000331493.2	+	12	1492	c.1081A>C	c.(1081-1083)Aaa>Caa	p.K361Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K265Q	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TAAAAGACCAAAAAATACTTG	0.323000													50	1					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241475	3241475	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:3241475C>T	ENST00000217939.6	-	5	2405	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	751						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCTTTTTCCGAATGCTTC	0.448000													40	1					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773128	60773128	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:60773128G>A	ENST00000335712.6	-	2	590	c.363C>T	c.(361-363)tgC>tgT	p.C121C	BCL11A_ENST00000358510.4_Silent_p.C121C|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.C121C|BCL11A_ENST00000538214.1_Silent_p.C121C|BCL11A_ENST00000359629.5_Silent_p.C121C	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	121	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTGTTTGGGGCAAATTCCTC	0.448000			T	IGH@	B-CLL								4	105					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47131031	47131031	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47131031T>C	ENST00000576409.1	-	2	403	c.341A>G	c.(340-342)gAc>gGc	p.D114G	EFCAB14_ENST00000544071.1_Missense_Mutation_p.T376A|ATPAF1_ENST00000371937.4_Missense_Mutation_p.D91G|ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91G|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3G|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114G			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					AGCAGCTGGGTCTGACCTGAT	0.463000													5	46					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969767	160969767	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160969767A>G	ENST00000368026.6	-	6	867	c.591_splice	c.e6-1	p.V198_splice	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Splice_Site_p.V149_splice|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	198	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GGGATCAAAGACCTGAGGAAG	0.473000													4	75					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631709	156631709	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:156631709T>C	ENST00000296518.7	+	6	601	c.392T>C	c.(391-393)gTt>gCt	p.V131A	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V131A|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V131A|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V131A|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V131A|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V131A|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	131				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCAGTGGAGGTTATCAAAGAA	0.378000													12	28					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8158980	8158980	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8158980T>G	ENST00000314666.6	+	5	678	c.545T>G	c.(544-546)cTt>cGt	p.L182R	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	182					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAGGGCCGGCTTGCGCTGGAG	0.582000													9	33					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151341648	151341648	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151341648G>A	ENST00000426705.2	-	4	462	c.318C>T	c.(316-318)ccC>ccT	p.P106P	SELENBP1_ENST00000435071.1_5'UTR|SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Silent_p.P64P	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	64					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTGGGCATGGGCAGCCGGT	0.612000													67	85					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538011	145538011	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145538011A>T	ENST00000369304.3	+	22	2865	c.2690A>T	c.(2689-2691)gAg>gTg	p.E897V	ITGA10_ENST00000539363.1_Missense_Mutation_p.E754V|ITGA10_ENST00000538811.1_Missense_Mutation_p.E766V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	897					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAGAGTTTGAGTTTAGCTGC	0.532000													56	298					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090869	50090869	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:50090869G>A	ENST00000281631.5	+	12	1204	c.1046G>A	c.(1045-1047)aGg>aAg	p.R349K	PARP8_ENST00000514067.2_Missense_Mutation_p.R349K|PARP8_ENST00000505697.2_Missense_Mutation_p.R349K|PARP8_ENST00000503750.2_Missense_Mutation_p.R349K|PARP8_ENST00000505554.1_Missense_Mutation_p.R328K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.R102K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	349						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGCGATCCCAGGGCGGAGCAG	0.512000													57	24					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11470337	11470337	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:11470337C>T	ENST00000227756.4	-	2	793	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GGCAGGCGGTCGCTGAGGTAG	0.652000													18	27					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26699865	26699865	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26699865T>G	ENST00000272371.2	-	22	2696	c.2570A>C	c.(2569-2571)aAc>aCc	p.N857T	OTOF_ENST00000338581.6_Missense_Mutation_p.N110T|OTOF_ENST00000339598.3_Missense_Mutation_p.N110T|OTOF_ENST00000402415.3_Missense_Mutation_p.N167T|OTOF_ENST00000403946.3_Missense_Mutation_p.N857T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	857					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACGCTTGTTGTTGCTCAT	0.607000													3	9					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525686	176525686	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176525686G>A	ENST00000367662.3	+	2	1392	c.228G>A	c.(226-228)ggG>ggA	p.G76G	PAPPA2_ENST00000367661.3_Silent_p.G76G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	76					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCAGGGCTGGGAACTACCTAA	0.562000													63	117					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596263	97596263	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:97596263C>T	ENST00000182096.4	+	1	445	c.381C>T	c.(379-381)gcC>gcT	p.A127A		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CAGTGGAGGCCAAAAGGTACA	0.398000													17	25					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73044480	73044480	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73044480C>T	ENST00000604411.1	+	0	32441				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAGTTTTATTCATACAGAAAG	0.328000													3	6					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624494	53624494	+	Missense_Mutation	SNP	C	C	T	rs141840932		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:53624494C>T	ENST00000219022.2	+	5	1199	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	374	Olfactomedin-like.				cell adhesion	extracellular space		p.S374L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AACCGCTTTTCATATGCTAAT	0.418000													59	96					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406016	85406016	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85406016A>C	ENST00000258888.5	+	10	5053	c.4886A>C	c.(4885-4887)aAg>aCg	p.K1629T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1629	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCCAGGCCAAGGTCATCTAC	0.612000													11	21					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25304689	25304689	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25304689C>T	ENST00000549804.2	+	0	98				SNHG14_ENST00000384733.1_RNA																							GTGTTTGGATCGATGATGAGT	0.493000													67	80					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052277	90052277	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:90052277C>T	ENST00000405460.2	+	56	11683	c.11587C>T	c.(11587-11589)Ctt>Ttt	p.L3863F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3863	Calx-beta 25.				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)		CCAGGATGACCTTCCTGAATT	0.408000													31	42					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906513	48906513	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48906513G>A	ENST00000394754.1	+	11	3595	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D1161N|STON1-GTF2A1L_ENST00000402114.2_Intron|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.D457N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D1114N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D1161N|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.D423N	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1114					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTATTTGAAAGATGGTGTTAT	0.353000													45	30					0	0	1	0	0
FAM200A	221786	broad.mit.edu	37	7	99145986	99145986	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:99145986A>G	ENST00000449309.1	-	2	424	c.45T>C	c.(43-45)ggT>ggC	p.G15G		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	15						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TCTCCTGGGTACCCCCTGGAG	0.463000													4	67					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039521	55039521	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55039521G>A	ENST00000370862.3	+	1	472	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	46					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTGTGGAGGGAATACCTGCA	0.537000													64	68					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924470	43924470	+	Silent	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:43924470G>T	ENST00000396879.1	-	13	1594	c.1482C>A	c.(1480-1482)ctC>ctA	p.L494L	CATSPER2_ENST00000354127.4_Silent_p.L494L|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Silent_p.L496L|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000381761.1_Silent_p.L500L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	496					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.L494fs*7(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AATATCGGAAGAGTGAGTCTC	0.483000													18	20					3.32936e-07	3.33983e-07	1	1	0
SMC1B	27127	broad.mit.edu	37	22	45802451	45802451	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45802451C>T	ENST00000357450.4	-	4	504	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E169K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	169					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTTTTCTTCATATTCTCCT	0.358000													16	23					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80641772	80641772	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:80641772G>A	ENST00000307624.3	-	7	733	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	235	Acyl coenzyme A hydrolase 2.|Coenzyme A binding.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATGGTCCCCGGAACTTAAACA	0.473000													14	17					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59058985	59058985	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:59058985G>A	ENST00000361488.3	+	5	1076	c.196G>A	c.(196-198)Gag>Aag	p.E66K	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	66						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CAAGAGCCAGGAGGTGATCAA	0.692000													28	27					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100217	9100217	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9100217G>A	ENST00000377424.4	-	6	782	c.603C>T	c.(601-603)gtC>gtT	p.V201V	SLC2A5_ENST00000536305.1_Silent_p.V142V|SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000535586.1_Silent_p.V86V	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	201					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGCGGGGACCCCGGTCA	0.682000													5	4					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136913319	136913319	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:136913319G>A	ENST00000303407.7	-	6	1157	c.972C>T	c.(970-972)tcC>tcT	p.S324S	BRD3_ENST00000371834.2_Silent_p.S324S|BRD3_ENST00000357885.2_Silent_p.S324S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	324						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGTGCTTCTTGGATAGCATCT	0.627000			T	C15orf55	lethal midline carcinoma of young people								15	10					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21464783	21464783	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21464783T>C	ENST00000313654.9	+	41	5510	c.5269T>C	c.(5269-5271)Tgc>Cgc	p.C1757R	LAMA3_ENST00000399516.3_Missense_Mutation_p.C1757R|LAMA3_ENST00000269217.6_Missense_Mutation_p.C148R|LAMA3_ENST00000587184.1_Missense_Mutation_p.C148R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1757	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGTGCTCCTGCAAAGCTGG	0.582000													5	147					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108691315	108691315	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:108691315G>A	ENST00000218006.2	-	6	1843	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	518					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAAAGTGGGGATTGATAAAC	0.413000													36	0					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404762	1404762	+	Silent	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:1404762C>A	ENST00000381524.3	+	4	354	c.168C>A	c.(166-168)acC>acA	p.T56T	CSF2RA_ENST00000417535.2_Silent_p.T56T|CSF2RA_ENST00000381500.1_Silent_p.T56T|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000432318.2_Silent_p.T56T|CSF2RA_ENST00000381529.3_Silent_p.T56T|CSF2RA_ENST00000361536.3_Silent_p.T56T|CSF2RA_ENST00000355432.3_Silent_p.T56T|CSF2RA_ENST00000381509.3_Silent_p.T56T|CSF2RA_ENST00000355805.2_Silent_p.T56T			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	56						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAAACACAACCTTCAGCAAGT	0.483000													4	176					0.00024832	0.000248593	1	1	0
COL21A1	81578	broad.mit.edu	37	6	56033065	56033065	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56033065G>A	ENST00000244728.5	-	6	1454	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	COL21A1_ENST00000370819.1_Missense_Mutation_p.R353C|COL21A1_ENST00000535941.1_Missense_Mutation_p.R353C	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	353	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTAAGAGACGAATTTGGTGC	0.348000													4	10					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46846053	46846053	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46846053C>T	ENST00000283296.7	-	10	1414	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	GPR116_ENST00000265417.7_Missense_Mutation_p.E376K|GPR116_ENST00000362015.4_Missense_Mutation_p.E376K|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	376	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTCATTTCTTCATTTGCCAAA	0.358000													21	17					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919780	142919780	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142919780C>T	ENST00000408947.3	+	1	651	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	203					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TGGGGATCTTCGTTCCTCTGA	0.502000													46	41					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596825	72596825	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:72596825G>A	ENST00000264839.7	+	1	99	c.99G>A	c.(97-99)agG>agA	p.R33R	RIMS1_ENST00000522291.1_Silent_p.R33R|RIMS1_ENST00000348717.5_Silent_p.R33R|RIMS1_ENST00000491071.2_Silent_p.R33R|RIMS1_ENST00000518273.1_Silent_p.R33R|RIMS1_ENST00000517960.1_Silent_p.R33R|RIMS1_ENST00000520567.1_Silent_p.R33R|RIMS1_ENST00000521978.1_Silent_p.R33R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	33	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGAGGAGAGGAACATTATCA	0.627000													14	0					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21900165	21900165	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21900165C>T	ENST00000374840.3	+	9	1120	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ALPL_ENST00000539907.1_Silent_p.F213F|ALPL_ENST00000374830.1_Intron|ALPL_ENST00000374832.1_Silent_p.F290F|ALPL_ENST00000540617.1_Silent_p.F235F|ALPL_ENST00000425315.2_Silent_p.F290F	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	290					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CAGGTCTCTTCGAGCCAGGGG	0.607000													13	25					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18347654	18347654	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18347654A>C	ENST00000429452.1	-	23	3340	c.2988T>G	c.(2986-2988)acT>acG	p.T996T	MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Silent_p.T996T|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000383094.3_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	654	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAAACAAGGAAGTGAGGCTAC	0.612000													17	87					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796742	1796742	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1796742A>G	ENST00000539485.1	-	16	1954	c.1721T>C	c.(1720-1722)gTg>gCg	p.V574A	ATP8B3_ENST00000525591.1_Missense_Mutation_p.V527A|ATP8B3_ENST00000310127.6_Missense_Mutation_p.V574A			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	574					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCACCATCACCGTGTGGCA	0.716000													7	64					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64814155	64814155	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:64814155C>T	ENST00000332707.5	+	8	1226	c.697C>T	c.(697-699)Cat>Tat	p.H233Y		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	233	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCTGCTAGGTCATATGTCAAT	0.308000													11	19					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826175	76826175	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76826175C>T	ENST00000248598.5	-	2	773	c.741G>A	c.(739-741)atG>atA	p.M247I	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	247	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AGCCTCCCCCCATGGTCTCCA	0.498000													63	69					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157512916	157512916	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157512916G>A	ENST00000361835.3	-	6	1013	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	FCRL5_ENST00000368191.3_Missense_Mutation_p.H201Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.H286Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H286Y|FCRL5_ENST00000368189.3_Missense_Mutation_p.H286Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	286						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGACAGGATGAGATGCAGGG	0.463000													8	22					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74274085	74274085	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74274085G>A	ENST00000262765.5	-	15	4783	c.4604C>T	c.(4603-4605)tCc>tTc	p.S1535F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1535							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTAGCAGGGGGAGCCCAGGCA	0.622000													42	36					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516511	154516511	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154516511C>T	ENST00000368482.4	+	9	1414	c.576C>T	c.(574-576)gtC>gtT	p.V192V	TDRD10_ENST00000368480.3_Silent_p.V192V|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	192							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATAGCGTCCGTGGGGAGG	0.612000													43	96					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149681697	149681697	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149681697C>T	ENST00000328668.7	-	1	819	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	80						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTGACCCCCTTGGCCGCCA	0.612000													10	8					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712513	247712513	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247712513G>A	ENST00000366491.2	+	4	517	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	GCSAML_ENST00000366490.3_Missense_Mutation_p.E128K|GCSAML_ENST00000536561.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366488.4_Missense_Mutation_p.R7Q|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Missense_Mutation_p.R7Q					germinal center-associated, signaling and motility-like																		TATCTCCTGCGAAAACTCAGG	0.463000													21	31					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120156575	120156575	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:120156575T>G	ENST00000392521.2	-	31	3987	c.3932A>C	c.(3931-3933)aAa>aCa	p.K1311T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K1269T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1269					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAGCGAGCTTTCTCCTTCTC	0.557000													15	33					0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73027964	73027964	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:73027964T>C	ENST00000377126.2	-	1	1576	c.316A>G	c.(316-318)Agt>Ggt	p.S106G		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	106	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						TGGGAAGGACTCGACCCAGAT	0.637000													17	84					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338852	151338852	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151338852G>A	ENST00000435071.1	-	7	1012	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	SELENBP1_ENST00000447402.3_Missense_Mutation_p.L186F|SELENBP1_ENST00000368868.5_Missense_Mutation_p.L248F|SELENBP1_ENST00000426705.2_Missense_Mutation_p.L290F			Q13228	SBP1_HUMAN	selenium binding protein 1	248					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGGAATAAGCCCATCTTTT	0.577000													88	96					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131256878	131256878	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131256878A>C	ENST00000303890.5	+	19	2355	c.1770A>C	c.(1768-1770)caA>caC	p.Q590H	ODF2_ENST00000434106.2_Missense_Mutation_p.Q614H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q590H|ODF2_ENST00000372796.4_Missense_Mutation_p.Q614H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q609H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q614H|ODF2_ENST00000546203.1_Missense_Mutation_p.Q595H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q595H|ODF2_ENST00000372814.3_Missense_Mutation_p.Q658H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q533H|ODF2_ENST00000372807.5_Missense_Mutation_p.Q609H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	614					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTGAGTGCCAAGACCAACTGC	0.582000													7	32					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57744955	57744955	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57744955C>T	ENST00000302804.7	+	5	749	c.563C>T	c.(562-564)tCt>tTt	p.S188F	AURKC_ENST00000415300.2_Missense_Mutation_p.S169F|AURKC_ENST00000598785.1_Missense_Mutation_p.S154F|AURKC_ENST00000448930.1_Missense_Mutation_p.S154F|AURKC_ENST00000599062.1_Missense_Mutation_p.S185F	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	188	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TTTGGCTGGTCTGTGCACACC	0.493000													23	73					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98550939	98550939	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:98550939C>T	ENST00000359863.4	+	39	5801	c.5592C>T	c.(5590-5592)ttC>ttT	p.F1864F	TRRAP_ENST00000355540.3_Silent_p.F1846F|TRRAP_ENST00000446306.3_Silent_p.F1845F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1864					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCATGACCTTCGCCTGGCCCT	0.612000													22	34					0	0	1	0	0
CD72	971	broad.mit.edu	37	9	35616188	35616188	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35616188A>G	ENST00000396757.1	-	6	604	c.440T>C	c.(439-441)aTa>aCa	p.I147T	CD72_ENST00000259633.4_Missense_Mutation_p.I147T|CD72_ENST00000378431.1_3'UTR|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	147					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTGCGTTATCTTGAGGCG	0.587000													23	59					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716581	45716581	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45716581C>T	ENST00000413988.1	-	10	1016	c.976G>A	c.(976-978)Ggc>Agc	p.G326S	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.G326S	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	326										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TTGCGCAGGCCACGGATGTCG	0.667000													42	53					0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26508325	26508325	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26508325C>T	ENST00000317799.5	+	15	1379	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	HADHB_ENST00000537713.1_Silent_p.S410S|HADHB_ENST00000545822.1_Silent_p.S403S|HADHB_ENST00000405867.3_Silent_p.S302S|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	425					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCTCTGTCCCTGGGACACC	0.498000													22	15					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8491502	8491502	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8491502T>A	ENST00000602117.1	+	3	641	c.186T>A	c.(184-186)ccT>ccA	p.P62P	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Silent_p.P62P|MARCH2_ENST00000381035.4_Silent_p.P62P|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000393944.1_Silent_p.P62P			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	62					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GTGATGGTCCTTTCTGCCGGA	0.572000													8	54					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49720046	49720046	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49720046C>T	ENST00000296456.5	+	19	2160	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	APEH_ENST00000438011.1_Missense_Mutation_p.S587F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	587					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.S587F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGGGTGGTTCCCATGGTGGC	0.572000													63	51					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104245089	104245089	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104245089T>G	ENST00000202556.9	-	4	629	c.347A>C	c.(346-348)gAa>gCa	p.E116A		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	116					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TACCCCATTTTCAGTACGTTT	0.403000													11	37					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101146573	101146573	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101146573T>C	ENST00000428847.2	-	4	2010	c.1694A>G	c.(1693-1695)gAg>gGg	p.E565G		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	565					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGCAGCATCCTCGACATTTAA	0.473000													13	71					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45110434	45110434	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45110434T>C	ENST00000355387.2	+	9	1641	c.1191T>C	c.(1189-1191)gaT>gaC	p.D397D	TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000372247.2_Silent_p.D397D|RNF220_ENST00000443020.2_Silent_p.D184D|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000361799.2_Silent_p.D397D|TMEM53_ENST00000372243.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220	397					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						TGGATGTGGATGGGGATGACA	0.567000													17	73					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170492691	170492691	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170492691T>C	ENST00000260970.3	+	13	1327	c.1107T>C	c.(1105-1107)gcT>gcC	p.A369A	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Silent_p.A369A|PPIG_ENST00000409714.3_Silent_p.A354A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	369					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGCAGAGAGCTCAAAGAATGA	0.388000													10	57					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74205643	74205643	+	Missense_Mutation	SNP	G	G	A	rs150942373		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74205643G>A	ENST00000286523.5	-	2	1851	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P357S	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		AGGGCGCTGGGAGGCAGGATA	0.697000													16	28					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756164	145756164	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145756164G>A	ENST00000276826.5	-	9	3180	c.2979C>T	c.(2977-2979)ccC>ccT	p.P993P	ARHGAP39_ENST00000540274.1_Silent_p.P993P|ARHGAP39_ENST00000377307.2_Silent_p.P1024P			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	993	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCGCCGCCTCGGGGCTGTCGT	0.677000													10	38					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241570	155241570	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155241570C>T	ENST00000357232.3	-	14	3615	c.3616G>A	c.(3616-3618)Gga>Aga	p.G1206R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1206	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTTCATTTCCTGAGAGGATG	0.393000													32	60					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438257	23438257	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:23438257G>A	ENST00000248996.4	+	2	1041	c.375G>A	c.(373-375)ctG>ctA	p.L125L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	125						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGAGCTGCTGGGTGTCATGC	0.667000													49	66					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724592	112724592	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:112724592A>C	ENST00000501255.2	-	3	808	c.185T>G	c.(184-186)cTt>cGt	p.L62R	GPR85_ENST00000449591.1_Missense_Mutation_p.L62R|GPR85_ENST00000297146.2_Missense_Mutation_p.L62R|GPR85_ENST00000424100.1_Missense_Mutation_p.L62R	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGAACAGCAAAGATCCAACAG	0.423000													4	132					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77702967	77702967	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77702967G>A	ENST00000298351.4	+	9	687	c.542_splice	c.e9-1	p.E181_splice		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	181						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTCCCTGCAGGAGCAAGCTCC	0.592000													36	28					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43533857	43533857	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:43533857A>G	ENST00000306846.3	-	9	1467	c.1235T>C	c.(1234-1236)tTc>tCc	p.F412S	PAIP1_ENST00000514514.1_Missense_Mutation_p.F333S|PAIP1_ENST00000338972.4_Missense_Mutation_p.F300S|PAIP1_ENST00000436644.2_Missense_Mutation_p.F333S	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	412					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AGCTGCAGTGAAAGGAACACC	0.358000													34	153					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774687	24774687	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24774687A>C	ENST00000221166.5	+	3	2101	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.K440T|NEFM_ENST00000437366.2_Missense_Mutation_p.K440T|NEFM_ENST00000433454.2_Missense_Mutation_p.K64T			P07197	NFM_HUMAN	neurofilament, medium polypeptide	440	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGAAACCCAAGGTGGAAGCT	0.468000													13	40					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420855	420855	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:420855A>G	ENST00000332826.6	-	18	1580	c.1496T>C	c.(1495-1497)gTg>gCg	p.V499A		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	499						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTTGTGGGTCACCCACCTGCG	0.746000													4	17					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21892142	21892142	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:21892142G>A	ENST00000328843.6	+	68	11006	c.10975G>A	c.(10975-10977)Gat>Aat	p.D3659N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D3652N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3659	AAA 5 (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						TCTGGAAGACGATCTCCTTTT	0.428000									Kartagener syndrome				15	26					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71499184	71499184	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:71499184A>T	ENST00000521425.1	-	8	1470	c.434T>A	c.(433-435)tTt>tAt	p.F145Y	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.F200Y|TRAM1_ENST00000262213.2_Missense_Mutation_p.F231Y			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	231	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GTGGAAAAGAAATTCAACAAA	0.308000													7	43					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101438483	101438483	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:101438483G>A	ENST00000554693.2	+	0	299				SNORD114-14_ENST00000362723.1_RNA																							GTTGGGTGATGAATAATACGT	0.373000													34	30					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876569	45876569	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45876569C>T	ENST00000291592.4	+	2	359	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	14						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCCTGCTGGTCTCCACCCGGG	0.706000													38	57					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227964390	227964390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:227964390G>A	ENST00000396625.3	-	18	1252	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.R349*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	349	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGTGCCCTCGATTTCCAGGA	0.403000													22	12					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215298009	215298009	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:215298009C>T	ENST00000444842.2	+	3	541	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S	KCNK2_ENST00000391894.2_Missense_Mutation_p.P116S|KCNK2_ENST00000391895.2_Missense_Mutation_p.P127S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	131							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	AGGGATTATACCGTTAGGAAA	0.383000													23	116					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539715	56539715	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56539715A>G	ENST00000390649.3	+	7	2116	c.2116A>G	c.(2116-2118)Agc>Ggc	p.S706G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	706						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGCATTAAACAGCTTCCAAGA	0.512000													34	246					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718616	25718616	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:25718616C>T	ENST00000520164.1	-	13	1828	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	EBF2_ENST00000408929.3_Missense_Mutation_p.G283S|EBF2_ENST00000535548.1_Missense_Mutation_p.G162S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	431					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGCTGGCTGCCATAGGAGTTG	0.483000													58	72					0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152436	58152436	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:58152436A>G	ENST00000266643.5	+	4	1228	c.797A>G	c.(796-798)aAg>aGg	p.K266R	MARCH9_ENST00000548358.1_Missense_Mutation_p.K153R	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	266						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AATTATGACAAGACCAAGGAC	0.602000													5	13					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755114	140755114	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140755114C>T	ENST00000517434.1	+	1	1464	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAAGTCTCCTACTCACTGG	0.577000													59	70					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32740684	32740684	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:32740684A>C	ENST00000545067.1	+	2	410	c.114A>C	c.(112-114)aaA>aaC	p.K38N	CCDC7_ENST00000362006.5_Missense_Mutation_p.K38N|CCDC7_ENST00000537047.1_Missense_Mutation_p.K38N|CCDC7_ENST00000277657.6_Missense_Mutation_p.K38N|CCDC7_ENST00000535327.1_Missense_Mutation_p.K38N|CCDC7_ENST00000539197.1_Missense_Mutation_p.K38N			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	38										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TAAAGGAAAAACATAATGCAA	0.363000													3	40					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947229	237947229	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237947229G>A	ENST00000366574.2	+	90	12534	c.12217G>A	c.(12217-12219)Gat>Aat	p.D4073N	RYR2_ENST00000360064.6_Missense_Mutation_p.D4079N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4057N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4073					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGGAGACGGATGAGAATGA	0.507000													10	19					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115527142	115527142	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:115527142A>C	ENST00000361048.1	+	5	590	c.263A>C	c.(262-264)aAg>aCg	p.K88T	PLEKHS1_ENST00000369312.4_5'UTR|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.K82T	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AGCCAGGAAAAGATGCAATCT	0.378000													4	12					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260841	32260841	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32260841C>T	ENST00000375015.4	-	26	1806	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	C6orf10_ENST00000527965.1_Missense_Mutation_p.E521K|C6orf10_ENST00000533191.1_Missense_Mutation_p.E535K|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000447241.2_Missense_Mutation_p.E537K|C6orf10_ENST00000375007.4_Missense_Mutation_p.E535K			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	537	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCATTGAtttctgattctctc	0.348000													31	38					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067851	3067851	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:3067851C>T	ENST00000397461.1	+	14	1936	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	CNTN4_ENST00000427331.1_Missense_Mutation_p.P518S|CNTN4_ENST00000358480.3_Missense_Mutation_p.P299S|CNTN4_ENST00000418658.1_Missense_Mutation_p.P518S|CNTN4_ENST00000397459.2_Missense_Mutation_p.P190S|CNTN4_ENST00000448906.2_Missense_Mutation_p.P190S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	518	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATTGTTTTACCGTGCCAGGT	0.423000													20	11					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031606	110031606	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110031606C>T	ENST00000369870.3	+	7	936	c.921C>T	c.(919-921)ctC>ctT	p.L307L		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	307										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAAGTTCTCGAGCGCCCCT	0.627000													18	27					0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75130993	75130993	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75130993G>A	ENST00000440863.2	-	10	1184	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	ULK3_ENST00000569437.1_Silent_p.L365L|ULK3_ENST00000568667.1_Silent_p.L376L	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	365						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						CCTCTGAGCAGGTCTCGGGCA	0.667000													4	2					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151700004	151700004	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151700004C>T	ENST00000392800.2	+	6	1118	c.864C>T	c.(862-864)ttC>ttT	p.F288F	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Silent_p.F288F	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	288						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAATGTTTTCTCTTATGAGA	0.393000													42	37					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266301	43266301	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43266301C>T	ENST00000372585.5	+	1	300	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	SLC22A7_ENST00000372589.3_Missense_Mutation_p.L69F|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.L69F	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	69						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GGAGGCCCATCTTCCCCGGGA	0.662000													22	29					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748889	152748889	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152748889C>T	ENST00000334371.2	+	1	42	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	14	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCccctcccaagtgcactc	0.622000													33	39					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19610234	19610234	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:19610234C>T	ENST00000397821.3	-	11	1379	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	SH3KBP1_ENST00000379698.4_Silent_p.K326K|SH3KBP1_ENST00000379716.1_Silent_p.K125K|SH3KBP1_ENST00000541422.1_Silent_p.K102K|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000379697.3_Silent_p.K407K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	363	Pro-rich.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CAGGAGGTATCTTTTTAATTT	0.388000													40	1					0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48830410	48830410	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:48830410T>G	ENST00000378565.5	+	3	547	c.344T>G	c.(343-345)aTt>aGt	p.I115S	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	115					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TACCAGACAATTGAAGAAAAT	0.403000													7	41					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027440	9027440	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9027440G>A	ENST00000383836.3	-	22	3490	c.3063C>T	c.(3061-3063)ccC>ccT	p.P1021P	SRGAP3_ENST00000360413.3_Silent_p.P997P	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1021					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGGCGGCATCGGGGTCGCGGA	0.701000			T	RAF1	pilocytic astrocytoma								49	23					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14791479	14791479	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:14791479G>A	ENST00000358984.4	+	16	1994	c.1814G>A	c.(1813-1815)gGa>gAa	p.G605E	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.G605E	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	605										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCTTAAGTGGAAAATTAGAA	0.308000													15	28					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90028617	90028617	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:90028617G>A	ENST00000428670.3	-	5	1181	c.725C>T	c.(724-726)tCa>tTa	p.S242L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.S242L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S242L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.S242L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	242					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACCAGTCAATGAGCTTTCATC	0.313000													24	1					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4994867	4994867	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4994867C>T	ENST00000318833.3	+	2	404	c.68C>T	c.(67-69)tCa>tTa	p.S23L		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCACATGGGTCATTATTAGAA	0.423000													46	2					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897104	23897104	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23897104C>T	ENST00000355349.3	-	16	1741		c.e16-1			NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta						adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCCCATGGGCTGAGGAAGCA	0.532000													26	15					0	0	1	0	0
NANS	54187	broad.mit.edu	37	9	100840622	100840622	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100840622T>C	ENST00000210444.5	+	4	666	c.596T>C	c.(595-597)gTc>gCc	p.V199A	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	199					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				AACCTGCGGGTCATCTCGGTG	0.507000													9	69					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161680618	161680618	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161680618G>T	ENST00000540926.1	+	3	459	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	FCRLA_ENST00000309691.6_Missense_Mutation_p.D50Y|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.D67Y|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.D67Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.D67Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.D27Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.D56Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.D50Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.D73Y			Q7L513	FCRLA_HUMAN	Fc receptor-like A	50					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCACACGGAGGATGACTTGAC	0.562000													34	34					1.99505e-19	2.01241e-19	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51791510	51791510	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:51791510T>G	ENST00000251076.5	-	18	4198	c.3911A>C	c.(3910-3912)aAt>aCt	p.N1304T	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.N1304T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1304						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCCAGCATATTAGATTTAAA	0.393000													11	47					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39440120	39440120	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:39440120A>G	ENST00000381565.2	+	3	308	c.204A>G	c.(202-204)caA>caG	p.Q68Q	APOBEC3F_ENST00000308521.5_Intron|APOBEC3F_ENST00000491387.1_Intron|APOBEC3G_ENST00000452957.2_Intron	NM_001006666.1	NP_001006667.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	0					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ccccatttcaagtgctcagta	0.517000													3	3					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544154	82544154	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82544154G>A	ENST00000423517.2	-	7	13485	c.13148C>T	c.(13147-13149)cCa>cTa	p.P4383L	PCLO_ENST00000333891.8_Missense_Mutation_p.P4383L|PCLO_ENST00000437081.1_Missense_Mutation_p.P1103L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4314					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGATATTGGTGGCAGGGG	0.527000													21	32					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135360775	135360775	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:135360775T>G	ENST00000367837.5	-	4	572	c.366A>C	c.(364-366)caA>caC	p.Q122H	HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000525067.1_Missense_Mutation_p.Q58H|HBS1L_ENST00000367826.2_Missense_Mutation_p.Q80H|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.Q122H|HBS1L_ENST00000367820.2_Missense_Mutation_p.Q122H|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000314674.3_Missense_Mutation_p.Q122H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	122					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GCACTCTATCTTGTTCCAGAA	0.398000													41	59					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56190020	56190020	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:56190020C>T	ENST00000340462.4	-	3	636	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	ZBP1_ENST00000541799.1_Missense_Mutation_p.R142Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.R67Q|ZBP1_ENST00000371173.3_Missense_Mutation_p.R142Q|ZBP1_ENST00000343535.4_Missense_Mutation_p.R142Q			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	142						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTACAAGTCTCGGTTCACATC	0.552000													90	125					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777908	31777908	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31777908T>G	ENST00000375654.4	-	2	2031	c.1842A>C	c.(1840-1842)caA>caC	p.Q614H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q614H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	614					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGCATCCTCCTTGGTAGAGTT	0.473000													8	83					0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81318690	81318690	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:81318690G>A	ENST00000372325.2	-	4	328	c.244C>T	c.(244-246)Cct>Tct	p.P82S	SFTPA2_ENST00000372327.5_Missense_Mutation_p.P82S	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	82	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CGCTCTCCAGGGACACCAGGG	0.627000									Pulmonary Fibrosis, Idiopathic				32	50					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640501	57640501	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57640501C>T	ENST00000254181.4	+	4	912	c.458C>T	c.(457-459)tCa>tTa	p.S153L	USP29_ENST00000598197.1_Missense_Mutation_p.S153L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	153					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTCAAAATCACCAACACAT	0.363000													36	84					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746016	156746016	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156746016A>C	ENST00000470811.1	+	13	1916	c.581A>C	c.(580-582)gAa>gCa	p.E194A	LEKR1_ENST00000356539.4_Missense_Mutation_p.E498A			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	90										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGAAATTGAAAATCTTAAA	0.338000													46	0					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58018241	58018241	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:58018241G>A	ENST00000290871.5	+	3	460	c.423G>A	c.(421-423)ggG>ggA	p.G141G	TEPP_ENST00000441824.2_Silent_p.G141G|TEPP_ENST00000569996.1_3'UTR	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	141						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CACTCCTTGGGGTCCCCAACA	0.527000													63	10					0	0	1	0	0
PSMD5	5711	broad.mit.edu	37	9	123595596	123595596	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123595596A>C	ENST00000210313.3	-	2	386	c.312T>G	c.(310-312)ctT>ctG	p.L104L	PSMD5_ENST00000373904.5_Silent_p.L104L|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	104					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						ATACCTGGGAAAGAGTGAGGA	0.498000													63	47					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346988	72346988	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72346988G>A	ENST00000389916.4	+	12	1669	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	AC103809.2_ENST00000599136.1_Missense_Mutation_p.A108V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	511					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGTGGCCGCAGCCCGGGAGAG	0.607000													41	91					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916128	9916128	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9916128T>G	ENST00000396573.2	-	11	2470	c.2161A>C	c.(2161-2163)Aaa>Caa	p.K721Q	GRIN2A_ENST00000404927.2_Missense_Mutation_p.K721Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K564Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K721Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K721Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K721Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	721					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACCCCGTTTTCAGGCTGACC	0.473000													6	88					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50713798	50713798	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50713798C>G	ENST00000440075.2	+	2	223	c.176C>G	c.(175-177)cCt>cGt	p.P59R	MYH14_ENST00000601313.1_Missense_Mutation_p.P59R|MYH14_ENST00000596571.1_Missense_Mutation_p.P59R|MYH14_ENST00000598205.1_Missense_Mutation_p.P59R|MYH14_ENST00000262269.8_Missense_Mutation_p.P59R|MYH14_ENST00000376970.2_Missense_Mutation_p.P59R|MYH14_ENST00000425460.1_Missense_Mutation_p.P59R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	59	Myosin head-like.				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)		GTGTGGGTGCCTTCGGAGCTT	0.761000													6	6					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402709	248402709	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248402709T>C	ENST00000306687.1	+	1	479	c.479T>C	c.(478-480)cTt>cCt	p.L160P		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			ATCATAGTGCTTGCAGCTGTC	0.458000													15	94					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6669263	6669263	+	Splice_Site	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6669263C>A	ENST00000541778.1	-	15	2266		c.e15+1		NOP2_ENST00000545200.1_Splice_Site|NOP2_ENST00000537442.1_Splice_Site|NOP2_ENST00000322166.5_Splice_Site|NOP2_ENST00000399466.2_Splice_Site|NOP2_ENST00000542015.1_Splice_Site|NOP2_ENST00000382421.3_Splice_Site			P46087	NOP2_HUMAN	NOP2 nucleolar protein						positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGATTACTTACCTGTCTGGGA	0.448000													31	23					5.60225e-13	5.63672e-13	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138373801	138373801	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:138373801G>A	ENST00000409968.1	+	18	3658	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.L1132L|THSD7B_ENST00000272643.3_Silent_p.L1163L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCATCACTGAACTCAAGGA	0.438000													31	80					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037719	148037719	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:148037719C>T	ENST00000370460.2	+	11	2623	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	AFF2_ENST00000286437.5_Missense_Mutation_p.S356L|AFF2_ENST00000342251.3_Missense_Mutation_p.S682L|AFF2_ENST00000370457.5_Missense_Mutation_p.S682L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	715					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACAGATTCATCTACATCT	0.458000													77	4					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648509	20648509	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20648509T>A	ENST00000219151.4	-	9	1313	c.103A>T	c.(103-105)Acc>Tcc	p.T35S	ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGGTCAGCGGTGTTCATGCTC	0.493000													23	57					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60088518	60088518	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:60088518G>A	ENST00000397786.2	-	9	1436	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	454					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTGCTTAGGAAGTATTTGT	0.418000													5	21					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532095	84532095	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84532095C>T	ENST00000527857.1	+	0	2117					NR_026851.1																						GCAACACATTCGAAAGAGGCT	0.483000													19	31					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25073475	25073475	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25073475T>C	ENST00000381989.3	-	5	546	c.441A>G	c.(439-441)caA>caG	p.Q147Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	147					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTTCAAAATCTTGAGGAAGAT	0.294000													6	30					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110582056	110582056	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110582056C>T	ENST00000369795.3	+	5	522	c.500C>T	c.(499-501)tCc>tTc	p.S167F	STRIP1_ENST00000369794.2_Missense_Mutation_p.S167F|STRIP1_ENST00000369796.1_Missense_Mutation_p.S72F	NM_033088.2	NP_149079.2			striatin interacting protein 1																		GAGGTGCAGTCCTGGATGCGC	0.557000													6	18					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134941914	134941914	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:134941914C>T	ENST00000607359.1	+	16	2739	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	GPR123_ENST00000392606.2_Silent_p.F97F|GPR123_ENST00000392607.3_Silent_p.F194F			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTGTGTACTTCCTGGGCACCT	0.711000													13	3					0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183253891	183253891	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:183253891G>A	ENST00000287713.6	-	6	817	c.483C>T	c.(481-483)agC>agT	p.S161S	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Silent_p.S156S	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	161					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGCAGATCCGGCTGAGGCTTT	0.542000													46	46					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24936034	24936034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:24936034C>T	ENST00000533227.1	+	7	501	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	LUZP2_ENST00000336930.6_Nonsense_Mutation_p.Q158*	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	158						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAAAAAAATCCAAGCCCAGCT	0.343000													17	11					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699953	49699953	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49699953T>C	ENST00000296452.4	+	6	10789	c.10675T>C	c.(10675-10677)Tac>Cac	p.Y3559H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3559					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGAGGAGGGCTACATCCTGGA	0.587000													6	66					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46334683	46334683	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:46334683G>A	ENST00000510861.1	-	4	377	c.204C>T	c.(202-204)gtC>gtT	p.V68V	GABRA2_ENST00000381620.4_Silent_p.V68V|GABRA2_ENST00000356504.1_Silent_p.V68V|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000507069.1_Silent_p.V68V|GABRA2_ENST00000514090.1_Silent_p.V68V|GABRA2_ENST00000515082.1_Silent_p.V68V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	68					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTAGTGAAGACTTCAGTAA	0.358000													10	24					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89755010	89755010	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:89755010C>T	ENST00000268125.5	-	7	1087	c.648G>A	c.(646-648)cgG>cgA	p.R216R		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	216	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GATCTGAAGTCCGGAGACTAG	0.547000													20	40					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663617	117663617	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117663617G>A	ENST00000368508.3	-	28	4813	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1533S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1539	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTTCCAAAGGATCTGAATAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								15	5					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929976	54929976	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:54929976C>T	ENST00000293373.6	+	28	3099	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S957F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1007					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCAGTTTCCCTCCCACTC	0.453000													24	3					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49392824	49392824	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49392824C>T	ENST00000221399.3	-	7	723	c.579G>A	c.(577-579)atG>atA	p.M193I		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	193					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		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;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGTTTGGTCCCATATTGGGTG	0.473000													40	65					0	0	1	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963163	106963163	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106963163G>A	ENST00000390621.2	-	0	176																											AGCCTTGCAGGAAACCTTCAC	0.577000													25	80					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698254	49698254	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49698254A>C	ENST00000296452.4	+	6	9090	c.8976A>C	c.(8974-8976)aaA>aaC	p.K2992N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2992					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTTGGCCAAAGACCGGGGTG	0.577000													9	51					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122748207	122748207	+	Missense_Mutation	SNP	G	G	A	rs150472752		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122748207G>A	ENST00000267199.4	-	3	320	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	VPS33A_ENST00000451053.2_Missense_Mutation_p.R70C|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R70C	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	70					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.R70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373000													11	1					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203959	135203959	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135203959G>A	ENST00000372169.2	-	10	3208	c.3026C>T	c.(3025-3027)tCc>tTc	p.S1009F	SETX_ENST00000224140.5_Missense_Mutation_p.S1009F|SETX_ENST00000393220.1_Missense_Mutation_p.S1009F			Q7Z333	SETX_HUMAN	senataxin	1009					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTCCACGGGAGGTATCTCC	0.383000													27	62					0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38003966	38003966	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38003966C>T	ENST00000276449.4	-	4	753		c.e4-1			NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein						C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CCCCATTGTCCTGTCAGAGAA	0.542000													6	35					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21906135	21906135	+	Splice_Site	SNP	A	A	C	rs146946726	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:21906135A>C	ENST00000377072.3	+	8	1046	c.699_splice	c.e8+1	p.K233_splice	MLLT10_ENST00000377059.3_Splice_Site_p.K233_splice|MLLT10_ENST00000307729.7_Splice_Site_p.K233_splice|MLLT10_ENST00000446906.2_Splice_Site_p.K233_splice	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	233	Glu/Lys-rich.|Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAAGAGAAAAAAGTAAGTGGA	0.299000			T	"""MLL, PICALM, CDK6"""	AL								10	19					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52325713	52325713	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:52325713G>A	ENST00000356297.4	-	15	2001	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S634L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	634					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCTTACTGTGAAAACAAATG	0.353000													24	18					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259811	44259811	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44259811G>A	ENST00000395749.2	-	23	1927	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	CAMK2B_ENST00000358707.3_Silent_p.I454I|CAMK2B_ENST00000350811.3_Silent_p.I493I|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000347193.4_Silent_p.I443I|CAMK2B_ENST00000440254.2_Silent_p.I493I|CAMK2B_ENST00000258682.6_Silent_p.I468I|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000457475.1_Silent_p.I469I|CAMK2B_ENST00000346990.4_Silent_p.I400I|CAMK2B_ENST00000353625.4_Silent_p.I430I|CAMK2B_ENST00000395747.2_Silent_p.I469I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	617					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGATGTAAGCGATGCAGGCGG	0.657000													21	34					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282962	152282962	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152282962C>T	ENST00000368799.1	-	3	4435	c.4400G>A	c.(4399-4401)gGa>gAa	p.G1467E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1467	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGCGGGATCCTTGTCTTCC	0.572000									Ichthyosis				172	169					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105204295	105204295	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:105204295T>G	ENST00000257700.2	+	12	2018	c.1787T>G	c.(1786-1788)aTt>aGt	p.I596S		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	596	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATGACATGATTAACCTCTTA	0.398000													7	54					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234596107	234596107	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:234596107T>G	ENST00000040877.1	-	7	1434	c.1435A>C	c.(1435-1437)Agt>Cgt	p.S479R		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	479					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAATGCCTACTTGTCATCTTC	0.393000													6	41					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488047	24488047	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:24488047G>A	ENST00000264463.4	-	12	2599	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	698					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCCTCCGAGGAATAAATAAC	0.502000										HNSCC(23;0.051)			46	24					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1630016	1630016	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:1630016C>T	ENST00000381580.1	-	2	192	c.13G>A	c.(13-15)Gag>Aag	p.E5K	SIRPG_ENST00000381583.2_Missense_Mutation_p.E38K|SIRPG_ENST00000216927.4_Missense_Mutation_p.E38K|SIRPG_ENST00000303415.3_Missense_Mutation_p.E38K|SIRPG_ENST00000344103.4_Missense_Mutation_p.E38K			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	38					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGGAGCTTCTCAGGCTGAATC	0.498000													14	50					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901439	102901439	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102901439T>G	ENST00000359520.7	+	9	2511	c.2285T>G	c.(2284-2286)cTt>cGt	p.L762R	TECPR2_ENST00000558678.1_Missense_Mutation_p.L762R	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	762							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCCACGGGCTTCCTTCTTCA	0.612000													8	97					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47856974	47856974	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47856974A>G	ENST00000359568.5	+	40	9186	c.9079A>G	c.(9079-9081)Agc>Ggc	p.S3027G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3027	Interaction with NEK2.				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)					GTCTGACTTGAGCAGGCCCAC	0.552000													3	15					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651488	15651488	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15651488G>T	ENST00000269703.2	+	8	1098	c.899G>T	c.(898-900)gGg>gTg	p.G300V	CYP4F22_ENST00000601005.2_Missense_Mutation_p.G300V	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	300						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCCAAGCAGGGGAAGACCTTG	0.637000													17	62					5.35267e-07	5.36866e-07	1	1	0
LAMP3	27074	broad.mit.edu	37	3	182871475	182871475	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182871475C>T	ENST00000265598.3	-	2	1009	c.754G>A	c.(754-756)Gag>Aag	p.E252K	LAMP3_ENST00000466939.1_Missense_Mutation_p.E228K	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	252					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTTACCGACTCCTTGTCTTGA	0.453000													30	91					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796392	69796392	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69796392G>A	ENST00000251566.4	-	5	1206	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	UGT2A3_ENST00000420231.2_Silent_p.P103P	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	392						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCAAATATGGGAACTCCCA	0.418000													40	24					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157127	145157127	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:145157127A>C	ENST00000558170.2	-	8	2811	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	ZEB2_ENST00000539609.3_Missense_Mutation_p.L519V|ZEB2_ENST00000303660.4_Missense_Mutation_p.L543V|ZEB2_ENST00000409487.3_Missense_Mutation_p.L543V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	543						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGTAGTCAAGCTCTGGAGG	0.398000													18	43					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127799	152127799	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152127799T>G	ENST00000316073.3	-	3	1840	c.1776A>C	c.(1774-1776)caA>caC	p.Q592H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	592	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TATTTTGCCCTTGTATTTCCC	0.458000													18	299					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071204	73071204	+	RNA	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73071204T>A	ENST00000429829.1	-	0	1384					NR_001564.2																						CGGCAAGACCTTCAGCCGCCA	0.527000													157	5					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56832009	56832009	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:56832009A>G	ENST00000257287.4	+	8	1152	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	343					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GCTGATAAAGAGCTTGGGGAA	0.373000													7	14					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304434	11304434	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11304434A>G	ENST00000432929.2	-	4	682	c.322T>C	c.(322-324)Tac>Cac	p.Y108H	KANK2_ENST00000589894.1_Missense_Mutation_p.Y108H|KANK2_ENST00000355150.5_Missense_Mutation_p.Y108H|KANK2_ENST00000586659.1_Missense_Mutation_p.Y108H|KANK2_ENST00000589359.1_Missense_Mutation_p.Y108H	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	108										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TACTGAGGGTAGAAGCCACGG	0.672000													4	139					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545679	234545679	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234545679G>A	ENST00000344644.5	+	1	580	c.511G>A	c.(511-513)Gga>Aga	p.G171R	UGT1A10_ENST00000373445.1_Missense_Mutation_p.G171R|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTCACCAGGGGAATATTTTG	0.448000													22	92					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127101922	127101922	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127101922C>T	ENST00000373600.3	+	9	1012	c.797C>T	c.(796-798)tCc>tTc	p.S266F	NEK6_ENST00000394199.2_Missense_Mutation_p.S266F|NEK6_ENST00000540326.1_Missense_Mutation_p.S250F|NEK6_ENST00000320246.5_Missense_Mutation_p.S232F|NEK6_ENST00000546191.1_Missense_Mutation_p.S232F|NEK6_ENST00000539416.1_Missense_Mutation_p.S257F|NEK6_ENST00000373603.1_Missense_Mutation_p.S232F|NEK6_ENST00000545174.1_Missense_Mutation_p.S232F	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	232	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GACATCTGGTCCCTGGGCTGT	0.597000													25	69					0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31549336	31549336	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31549336C>T	ENST00000429299.2	-	3	287	c.280_splice	c.e3+1	p.G94_splice	LTB_ENST00000446745.2_Splice_Site_p.*78_splice|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	94					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	AGGTCCTTACCTATGAGGTGG	0.552000													52	73					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409389	4409389	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4409389A>C	ENST00000301280.5	+	3	694	c.593A>C	c.(592-594)gAc>gCc	p.D198A		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	198	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGAGGCGACTCCCAGGAA	0.587000								Chromatin Structure					9	56					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37430004	37430004	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37430004C>T	ENST00000234170.5	-	15	3093	c.2948G>A	c.(2947-2949)gGc>gAc	p.G983D	AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_3'UTR|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000406711.1_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	983					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CAATAGATGGCCAAACTTTTA	0.294000													17	13					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417647	178417647	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178417647C>T	ENST00000231188.5	-	4	1136	c.958G>A	c.(958-960)Gag>Aag	p.E320K	GRM6_ENST00000517717.1_Missense_Mutation_p.E320K	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	320					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCACGTCCTCCAGGCTCAAG	0.672000													5	11					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91180266	91180266	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:91180266G>A	ENST00000370445.4	-	2	714	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	225						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCACAGGGGGACTCTCACGG	0.542000													86	90					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328187	48328187	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48328187A>G	ENST00000319988.1	+	1	413	c.413A>G	c.(412-414)aAg>aGg	p.K138R		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GATTGCCGGAAGTGTGGCCTG	0.577000													32	10					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51584253	51584253	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:51584253C>T	ENST00000389243.4	-	11	1622	c.683G>A	c.(682-684)gGa>gAa	p.G228E	POU6F1_ENST00000333640.10_Missense_Mutation_p.G228E|POU6F1_ENST00000550824.1_Missense_Mutation_p.G228E			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	228					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGCTCGCCTCCCACAAACTC	0.572000													60	54					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17891717	17891717	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:17891717A>C	ENST00000331429.2	+	7	1301	c.1198A>C	c.(1198-1200)Agt>Cgt	p.S400R	MRC1L1_ENST00000457317.1_Missense_Mutation_p.S400R																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGACCTCGCAAGTATCCACAC	0.463000													38	196					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100367065	100367065	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100367065T>G	ENST00000341170.4	-	9	1578	c.1196A>C	c.(1195-1197)aAg>aCg	p.K399T	TSTD2_ENST00000375172.2_Missense_Mutation_p.K173T|TSTD2_ENST00000375165.1_Missense_Mutation_p.K139T|TSTD2_ENST00000354801.2_Missense_Mutation_p.K139T	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	399										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AACAAACAACTTCCCTTTGTA	0.473000													4	61					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120816119	120816119	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:120816119T>G	ENST00000378164.2	-	5	857	c.560_splice	c.e5+1	p.R187_splice		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	187					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATAATCTACCTTGTAGAATTT	0.328000													24	103					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7211092	7211092	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7211092T>C	ENST00000379938.2	+	7	1018	c.481T>C	c.(481-483)Tct>Cct	p.S161P	RREB1_ENST00000349384.6_Missense_Mutation_p.S161P|RREB1_ENST00000334984.6_Missense_Mutation_p.S161P|RREB1_ENST00000379933.3_Missense_Mutation_p.S161P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	161					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCCCTCCATCTCCTCTGAA	0.488000													10	115					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63991125	63991125	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:63991125C>T	ENST00000370658.5	-	4	364	c.330_splice	c.e4-1	p.E111_splice	LGSN_ENST00000370657.4_Splice_Site_p.E111_splice	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	111					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTCACTTTCTCCTAAAGAAGG	0.368000													15	35					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028921	68028921	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68028921C>T	ENST00000329153.5	+	7	705	c.573C>T	c.(571-573)gtC>gtT	p.V191V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	191						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGATTCTGTCCCTTCAGAGC	0.587000													5	13					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60584706	60584706	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:60584706T>G	ENST00000400324.4	-	8	1089	c.869A>C	c.(868-870)aAa>aCa	p.K290T	DIAPH3_ENST00000377908.2_Missense_Mutation_p.K279T|DIAPH3_ENST00000267215.4_Missense_Mutation_p.K290T|DIAPH3_ENST00000400320.1_Missense_Mutation_p.K244T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.K290T|DIAPH3_ENST00000400319.1_Missense_Mutation_p.K220T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	290	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGAGAGAAGTTTAACCACATC	0.383000													3	15					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808722	241808722	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241808722C>T	ENST00000307503.3	+	2	688	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	101					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGACTCCTTCCTGGTTGGGGC	0.637000													62	31					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515118	47515118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47515118C>T	ENST00000371901.3	+	11	1547	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	CYP4X1_ENST00000538609.1_Nonsense_Mutation_p.Q432*	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	433						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						GAGGTTCTCTCAGGAGAATTC	0.458000													57	38					0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1919990	1919990	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1919990T>G	ENST00000434971.2	-	4	289	c.257A>C	c.(256-258)aAg>aCg	p.K86T				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCATGCATCTTATCCAGGGC	0.532000													13	107					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204093813	204093813	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:204093813T>C	ENST00000367204.1	+	13	1529	c.1420T>C	c.(1420-1422)Tat>Cat	p.Y474H		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	474					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAGCCCTACTATGAGGAACA	0.632000													20	21					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527972	155527972	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155527972G>A	ENST00000404648.3	-	8	1253	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	FGG_ENST00000405164.1_Silent_p.F346F|FGG_ENST00000336098.3_Silent_p.F338F|FGG_ENST00000407946.1_Silent_p.F346F	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	338	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCCAGGTACTGAACTGCATGC	0.473000													28	65					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158259881	158259881	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158259881A>G	ENST00000368170.3	+	1	306	c.27A>G	c.(25-27)ctA>ctG	p.L9L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	9					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTCTGCTGCTAGCTCTTCTTC	0.468000													14	79					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10206740	10206740	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10206740C>T	ENST00000418404.3	-	37	5705	c.5542G>A	c.(5542-5544)Gaa>Aaa	p.E1848K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1848K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1848K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1848					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACTTTGCGTTCGTACTTGTGG	0.512000													135	8					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43738694	43738694	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:43738694T>G	ENST00000263801.3	-	14	3168	c.2916A>C	c.(2914-2916)aaA>aaC	p.K972N	TP53BP1_ENST00000450115.2_Missense_Mutation_p.K977N|TP53BP1_ENST00000382044.4_Missense_Mutation_p.K977N|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K977N	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	972					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGAATCCCCTTTTCCACTCC	0.463000								Other conserved DNA damage response genes					26	41					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512459	68512459	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:68512459A>T	ENST00000370981.1	-	4	1158	c.522T>A	c.(520-522)aaT>aaA	p.N174K	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.N174K|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	174					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGAAGGCGCAATTCCACTCCA	0.542000													20	88					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49698146	49698146	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:49698146C>T	ENST00000303221.5	-	7	1100	c.885G>A	c.(883-885)ggG>ggA	p.G295G	EMB_ENST00000508934.1_Silent_p.G241G|EMB_ENST00000514111.1_Silent_p.G245G	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	295						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CAAATTCTTTCCCCTCATCTG	0.308000													12	17					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801153	185801153	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185801153G>A	ENST00000302277.6	+	4	1624	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	344						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTTATTAATGAAGACATACC	0.348000													10	12					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42557987	42557987	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42557987G>A	ENST00000381668.5	-	16	1642	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	ATP8A1_ENST00000264449.10_Missense_Mutation_p.H456Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	471					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAACTTACATGATTATTTTGG	0.303000													7	7					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111944655	111944655	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:111944655C>G	ENST00000375741.2	+	20	2638	c.2388C>G	c.(2386-2388)tgC>tgG	p.C796W	ARHGEF7_ENST00000218789.5_Intron|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.C618W|ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.C746W|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.C775W|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.C540W	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	796					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGAGCTGTTGCTCATATATCT	0.428000													3	58					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069201	82069201	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:82069201T>C	ENST00000199936.4	+	1	365	c.172T>C	c.(172-174)Ttg>Ctg	p.L58L		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	58					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TTTTTGGGGCTTGATCCTCTT	0.517000													16	2					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1793462	1793462	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1793462C>T	ENST00000250894.4	+	5	886	c.729C>T	c.(727-729)tcC>tcT	p.S243S	MAPK8IP3_ENST00000356010.5_Silent_p.S243S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	243					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCTGCAGTCCAGCTCCAGCT	0.662000													24	18					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320186	38320186	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:38320186G>A	ENST00000379705.3	-	3	1642	c.785C>T	c.(784-786)tCc>tTc	p.S262F	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.S262F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S262F|TRPC4_ENST00000426868.2_Missense_Mutation_p.S262F|TRPC4_ENST00000447043.1_Missense_Mutation_p.S262F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.S262F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S262F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	262	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGTTCTCTGGAACTTCTCGT	0.403000													58	55					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455745	42455745	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42455745G>A	ENST00000262407.5	-	20	2110	c.2079C>T	c.(2077-2079)gcC>gcT	p.A693A	ITGA2B_ENST00000353281.4_Silent_p.A693A	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CATTGCTTAGGGCCCGCATGT	0.652000													23	11					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105622934	105622934	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:105622934A>C	ENST00000258530.3	-	2	347	c.122T>G	c.(121-123)cTc>cGc	p.L41R	APPL2_ENST00000539978.2_5'UTR|APPL2_ENST00000551662.1_Missense_Mutation_p.L41R	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	41	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATTGCCTGGAGCAGCTGGTT	0.517000													7	10					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360709	16360709	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:16360709G>A	ENST00000354981.2	-	19	2095	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	KIF16B_ENST00000408042.1_Silent_p.I646I|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.I646I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	646	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGAGCTGCACGATTTCTGTCT	0.502000													53	58					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90143840	90143840	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:90143840A>C	ENST00000268138.7	+	9	2182	c.2077A>C	c.(2077-2079)Agt>Cgt	p.S693R	TICRR_ENST00000560985.1_Missense_Mutation_p.S692R					TOPBP1-interacting checkpoint and replication regulator																		TCAAGTAAAAAGTAGTCTCTT	0.284000													3	6					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206626721	206626721	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206626721A>T	ENST00000414007.1	+	16	1935	c.1935A>T	c.(1933-1935)caA>caT	p.Q645H	SRGAP2_ENST00000419187.2_Missense_Mutation_p.Q90H|SRGAP2_ENST00000471256.1_3'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	785	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCGTGGTCCAAGACACGTACG	0.582000													5	18					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728527	51728527	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51728527G>A	ENST00000262262.4	+	2	112	c.91G>A	c.(91-93)Gta>Ata	p.V31I	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.V31I	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	31	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GTCAGTGACGGTACAGGAGGG	0.582000													44	42					0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17928152	17928152	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:17928152T>G	ENST00000377768.3	-	12	1368	c.1056A>C	c.(1054-1056)caA>caC	p.Q352H	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.Q352H	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	352	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						ATTCGGAAAGTTGTTCAAATT	0.398000													10	81					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063227	46063227	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46063227G>A	ENST00000309285.3	-	2	569	c.213C>T	c.(211-213)ctC>ctT	p.L71L	XCR1_ENST00000542109.1_Silent_p.L71L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	71					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGCACAGGTTGAGGATGAAGA	0.577000													8	22					0	0	1	0	0
ZCCHC10	54819	broad.mit.edu	37	5	132342495	132342495	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:132342495C>T	ENST00000324170.3	-	2	225	c.159G>A	c.(157-159)aaG>aaA	p.K53K	ZCCHC10_ENST00000509008.1_Silent_p.K53K|ZCCHC10_ENST00000509437.1_Silent_p.K75K|ZCCHC10_ENST00000355372.2_Silent_p.K75K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513541.1_Silent_p.K75K|ZCCHC10_ENST00000513848.1_Silent_p.K53K	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	75							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAAAGCTTTCTTTAGTTCTG	0.313000													7	13					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7087524	7087524	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7087524T>G	ENST00000261407.4	-	9	1104	c.1019A>C	c.(1018-1020)aAc>aCc	p.N340T	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	340					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GGCGTTGGTGTTGATGTTGAA	0.572000													6	288					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117892106	117892106	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117892106G>T	ENST00000535237.1	-	6	1058	c.829C>A	c.(829-831)Cta>Ata	p.L277I	GOPC_ENST00000052569.6_Missense_Mutation_p.L269I|GOPC_ENST00000368498.2_Missense_Mutation_p.L277I|GOPC_ENST00000467125.1_5'UTR					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CTTTTCTTTAGGGAATCTTGA	0.338000			O	ROS1	glioblastoma								10	2					3.07112e-06	3.07884e-06	1	1	0
A1CF	29974	broad.mit.edu	37	10	52580383	52580383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:52580383G>A	ENST00000395489.2	-	10	1171	c.775C>T	c.(775-777)Cga>Tga	p.R259*	A1CF_ENST00000374001.1_Nonsense_Mutation_p.R266*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R266*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R266*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R211*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R274*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.R266*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	266	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.R274*(2)|p.R266*(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCATAGTCTCGAATTTTCTTC	0.378000													11	3					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	521129	521129	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:521129A>C	ENST00000239830.4	+	4	434	c.255A>C	c.(253-255)gaA>gaC	p.E85D	CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_Missense_Mutation_p.E53D|CCDC77_ENST00000412006.2_Missense_Mutation_p.E53D|CCDC77_ENST00000540180.1_Missense_Mutation_p.E53D	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	85						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TCTACAAAGAAGCTTGTGAAG	0.413000													9	46					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	60001	60001	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:60001G>A	ENST00000509152.2	+	3	366	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E61K					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GCAAATAAAAGAGCCCTGCAA	0.448000													12	133					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647197	57647197	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57647197T>G	ENST00000269834.1	-	5	893	c.508A>C	c.(508-510)Aat>Cat	p.N170H		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACAGGCATTACATTTCAGT	0.383000													76	144					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419695	56419695	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:56419695G>A	ENST00000407595.2	+	2	862	c.360G>A	c.(358-360)aaG>aaA	p.K120K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	120										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAAAGGCAAGAGGGTGTCTC	0.537000													10	30					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59125680	59125680	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:59125680A>T	ENST00000472487.1	-	20	2515	c.2476T>A	c.(2476-2478)Ttg>Atg	p.L826M	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	826					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CACATTAACAATTCCTTTGTA	0.299000													7	28					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301646	38301646	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38301646A>C	ENST00000260630.3	-	2	1287	c.886T>G	c.(886-888)Ttt>Gtt	p.F296V	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.F296V	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	296					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GAGAGGATAAAGGCGTCCATC	0.617000													7	15					0	0	1	0	0
BACE1	23621	broad.mit.edu	37	11	117161328	117161328	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117161328A>C	ENST00000313005.6	-	8	1600	c.1140T>G	c.(1138-1140)tgT>tgG	p.C380W	BACE1_ENST00000445823.2_Missense_Mutation_p.C336W|BACE1_ENST00000392937.6_Missense_Mutation_p.C280W|BACE1_ENST00000510630.1_Missense_Mutation_p.C255W|BACE1_ENST00000513780.1_Missense_Mutation_p.C355W|BACE1_ENST00000528053.1_Missense_Mutation_p.C346W|BACE1_ENST00000428381.2_Missense_Mutation_p.C311W	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	380					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CAAACTTGTAACAGTCGTCTT	0.522000													3	20					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703824	187703824	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:187703824G>A	ENST00000295131.2	-	4	395	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	119					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCCTGGTTGGGGAGTTTGAAC	0.393000													41	94					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16738473	16738473	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:16738473C>T	ENST00000380672.4	-	2	71	c.14G>A	c.(13-15)gGg>gAg	p.G5E	BNC2_ENST00000380666.2_Missense_Mutation_p.G5E|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Missense_Mutation_p.G5E	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGGGTGGGCCCAAGGTGTGC	0.423000													6	19					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117839	46117839	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46117839C>T	ENST00000400365.3	+	1	753	c.723C>T	c.(721-723)tcC>tcT	p.S241S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	241						keratin filament				large_intestine(1)|lung(8)	9						CCACATGTTCCCGCCTGGCCT	0.706000													58	57					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54424116	54424116	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:54424116A>C	ENST00000306888.2	-	1	268	c.17T>G	c.(16-18)tTg>tGg	p.L6W	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	102						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAAGACCAGCAACAGAAGCGC	0.542000													7	29					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326065	57326065	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57326065C>T	ENST00000326441.9	-	10	4108	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1123K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1249K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1125K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1249					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAATCATCTTCCCTATGAAGT	0.488000													4	49					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600543	31600543	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:31600543G>A	ENST00000326132.5	+	7	709	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	RNF185_ENST00000426256.2_Missense_Mutation_p.V122M|RNF185_ENST00000266252.7_Missense_Mutation_p.V128M	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	184						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TGTGGCCCTGGTGATCATGTT	0.562000													15	70					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15159163	15159163	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:15159163A>C	ENST00000198767.6	-	16	1702	c.1619T>G	c.(1618-1620)aTt>aGt	p.I540S	RRN3_ENST00000563559.1_Missense_Mutation_p.I540S|RRN3_ENST00000540462.1_Missense_Mutation_p.I358S|RRN3_ENST00000327307.7_Missense_Mutation_p.I507S|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.I510S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	540	Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GGTACTCCTAATGACTGGCAG	0.488000													18	55					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409848	56409848	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56409848A>T	ENST00000544374.1	-	1	99	c.71T>A	c.(70-72)cTt>cAt	p.L24H	OR5AP2_ENST00000302981.1_Missense_Mutation_p.L23H			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ATTGTCGGAAAGTCCTAAGAG	0.393000													17	55					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25232332	25232332	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:25232332G>A	ENST00000354454.3	+	7	901	c.71_splice	c.e7-1	p.R24_splice	LRMP_ENST00000547044.1_Splice_Site_p.R24_splice|LRMP_ENST00000548766.1_Splice_Site_p.R24_splice	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	80					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTTTTGGCAGGGAATATTCCT	0.348000													47	38					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642526	122642526	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122642526G>A	ENST00000195173.4	-	10	1513	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R458C|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R404C			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	404	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.R404C(1)|p.R458C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCCTGGTAGCGAAATGGGCCA	0.557000													121	4					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028123	170028123	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:170028123G>A	ENST00000284637.9	-	11	2714	c.2373C>T	c.(2371-2373)gcC>gcT	p.A791A		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	791						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)		AAGCATCCTGGGCCAGGGCTG	0.652000													12	35					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98457846	98457846	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:98457846G>A	ENST00000450876.1	-	3	1570	c.255C>T	c.(253-255)ttC>ttT	p.F85F	TMEM130_ENST00000416379.2_Silent_p.F169F|TMEM130_ENST00000339375.4_Silent_p.F169F|TMEM130_ENST00000546258.1_Silent_p.F150F|TMEM130_ENST00000345589.4_Silent_p.F67F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	169						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGGTCTTGAGGAAGTTGCTCG	0.587000													24	34					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228480371	228480371	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:228480371T>G	ENST00000570156.2	+	45	12112	c.12038T>G	c.(12037-12039)cTg>cGg	p.L4013R	OBSCN_ENST00000422127.1_Missense_Mutation_p.L3584R|OBSCN_ENST00000284548.11_Missense_Mutation_p.L3584R|OBSCN_ENST00000366709.4_Missense_Mutation_p.L703R|OBSCN_ENST00000359599.6_Missense_Mutation_p.L2431R|OBSCN_ENST00000366707.4_Missense_Mutation_p.L703R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3053	Ig-like 41.				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)				AGATACAGCCTGAGGCAGGAC	0.607000													13	168					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172247	95172247	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95172247C>T	ENST00000027335.3	-	12	1627	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	CDH17_ENST00000441892.2_Silent_p.G287G|CDH17_ENST00000450165.2_Silent_p.G501G	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	501	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGTGTCAACCCCCAGGCGTC	0.398000													43	41					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977644	6977644	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6977644G>A	ENST00000278319.5	+	7	2024	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF215_ENST00000414517.2_Missense_Mutation_p.R479Q|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCTCTTATTCGACACCAAATG	0.368000													30	49					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10464893	10464893	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10464893G>A	ENST00000525621.1	-	20	3214	c.2733C>T	c.(2731-2733)gtC>gtT	p.V911V	TYK2_ENST00000524462.1_Silent_p.V726V|TYK2_ENST00000264818.6_Silent_p.V911V	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	911	Protein kinase 2.				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)			AGTACAAGCTGACCTTGCCGA	0.662000													65	54					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49866548	49866548	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49866548G>A	ENST00000331456.2	-	15	1511	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F		NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	466	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACGACCACAGGAAGGTGTCCA	0.552000													40	78					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160671981	160671981	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160671981C>T	ENST00000263636.4	-	31	4511	c.4484G>A	c.(4483-4485)gGa>gAa	p.G1495E	LY75_ENST00000554112.1_Missense_Mutation_p.G1495E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G1495E|LY75_ENST00000553424.1_Missense_Mutation_p.G1495E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G1495E	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTCCAAGTTCCTTTTGGATC	0.348000													9	27					0	0	1	0	0
RNF44	22838	broad.mit.edu	37	5	175956539	175956539	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:175956539T>C	ENST00000274811.4	-	9	1645	c.1121A>G	c.(1120-1122)cAg>cGg	p.Q374R	RNF44_ENST00000537487.1_Missense_Mutation_p.Q293R	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	374							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTCCGACTGATGGCTGTC	0.642000													31	30					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14569135	14569135	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14569135A>T	ENST00000242783.6	+	9	1532	c.1367A>T	c.(1366-1368)gAg>gTg	p.E456V	PKN1_ENST00000342216.4_Missense_Mutation_p.E462V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	456	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGACAATGAGAGGCATGAG	0.582000													13	49					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541608	55541608	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55541608C>T	ENST00000361760.1	+	1	695	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AAGATGCGATCTGCAAGTGGG	0.413000													37	48					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118951	93118951	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93118951C>T	ENST00000216487.7	+	6	1716	c.1557C>T	c.(1555-1557)gcC>gcT	p.A519A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	519					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGCCACTGCCCATTCCCAGA	0.647000													21	30					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391951	23391951	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:23391951C>T	ENST00000343070.2	+	13	1928	c.1752C>T	c.(1750-1752)gcC>gcT	p.A584A	SCNN1B_ENST00000568085.1_Silent_p.A548A|SCNN1B_ENST00000307331.5_Silent_p.A629A|SCNN1B_ENST00000568923.1_Silent_p.A557A	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	584					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGGTGGAGGCCCACACCAACT	0.706000													49	23					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46539136	46539136	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:46539136G>A	ENST00000328306.4	-	3	605	c.580C>T	c.(580-582)Cat>Tat	p.H194Y		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	194					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TATCCAGCATGAAAAATAATT	0.294000													14	0					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350574	24350574	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24350574G>A	ENST00000175238.6	+	16	1757	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.K330K|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Silent_p.K558K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	558	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATGTGGAAAGATCTACTGCA	0.448000													20	25					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38525296	38525296	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:38525296T>G	ENST00000399017.2	+	27	5206	c.2459T>G	c.(2458-2460)aTt>aGt	p.I820S	TTC3_ENST00000355666.1_Missense_Mutation_p.I820S|TTC3_ENST00000354749.2_Missense_Mutation_p.I820S|TTC3_ENST00000540756.1_Missense_Mutation_p.I510S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	820					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATGACAGAATTCTACAGTGT	0.348000													4	26					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903429	4903429	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4903429C>T	ENST00000380378.1	+	1	381	c.381C>T	c.(379-381)ttC>ttT	p.F127F	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.F100F|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCTTGCTTCATTCAAATGT	0.502000													37	45					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262329	61262329	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61262329T>C	ENST00000344731.5	+	7	784	c.682T>C	c.(682-684)Ttg>Ctg	p.L228L	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	228					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCTGGAGGACTTGCAGGCCAA	0.428000													6	51					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7406597	7406597	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7406597A>C	ENST00000322644.6	+	17	3313	c.2914A>C	c.(2914-2916)Act>Cct	p.T972P		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	972					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCTTCCCAACTGGAGACAG	0.597000													7	70					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128035014	128035014	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128035014G>A	ENST00000338791.6	-	14	1829	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	IMPDH1_ENST00000378717.4_Silent_p.L424L|IMPDH1_ENST00000343214.4_Silent_p.L383L|IMPDH1_ENST00000354269.5_Silent_p.L483L|IMPDH1_ENST00000348127.6_Silent_p.L457L|IMPDH1_ENST00000470772.1_Silent_p.L407L|IMPDH1_ENST00000419067.2_Silent_p.L460L|IMPDH1_ENST00000496200.1_Silent_p.L383L|IMPDH1_ENST00000480861.1_Silent_p.L403L	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	408					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GGTACTTCTTGAGCCGCACCC	0.617000													47	54					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927709	38927709	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38927709C>T	ENST00000450244.1	-	16	3054	c.2856G>A	c.(2854-2856)gaG>gaA	p.E952E	SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000444237.2_Silent_p.E952E|SCN11A_ENST00000302328.3_Silent_p.E952E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	952					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTTCTTGTTCTCCTGATGGA	0.428000													23	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428659	179428659	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179428659A>C	ENST00000589042.1	-	326	82424	c.82200T>G	c.(82198-82200)gcT>gcG	p.A27400A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A18527A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A18335A|TTN_ENST00000359218.5_Silent_p.A18460A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.A25759A|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.A24832A|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25759							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)			GTGAAATATTAGCACCACCAT	0.468000													20	54					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126887407	126887407	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:126887407T>C	ENST00000296666.8	+	9	1325	c.1137T>C	c.(1135-1137)agT>agC	p.S379S	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Silent_p.S379S	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	379						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AGGCTCAAAGTCTAACTCCCC	0.383000													3	20					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793355	160793355	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160793355A>C	ENST00000263285.5	+	8	1629	c.1599A>C	c.(1597-1599)tcA>tcC	p.S533S	LY9_ENST00000368040.1_Silent_p.S171S|LY9_ENST00000368035.1_Silent_p.S171S|LY9_ENST00000368041.2_Silent_p.S403S|LY9_ENST00000341032.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	533					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACCCACCTCAGACAGCAGCT	0.557000													13	37					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23290646	23290646	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23290646G>A	ENST00000358689.4	-	13	1879	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	ENTPD4_ENST00000417069.2_Silent_p.F540F|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	548					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GACTGGCTCGGAAGGCCTCCT	0.587000													15	23					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605734	171605734	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:171605734C>T	ENST00000037502.5	-	3	905	c.846G>A	c.(844-846)caG>caA	p.Q282Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	282	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACGTGGTCTCCTGGGTGTAGG	0.532000													42	39					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102946616	102946616	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:102946616G>A	ENST00000504592.1	+	13	1917	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000428908.1_Missense_Mutation_p.R382Q|BANK1_ENST00000444316.2_Missense_Mutation_p.R485Q|BANK1_ENST00000508653.1_Missense_Mutation_p.R382Q|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Missense_Mutation_p.R515Q			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	515					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCCCCGCCGCGACCTGTAGCT	0.438000													17	24					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115953	26115953	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26115953G>A	ENST00000313735.6	-	4	433	c.200C>T	c.(199-201)tCt>tTt	p.S67F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	67					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGATTCTGGAGACTTCTGCAA	0.537000													71	95					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67210079	67210079	+	Silent	SNP	G	G	A	rs150308810	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67210079G>A	ENST00000393893.1	-	3	124	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CORO1B_ENST00000453768.2_Silent_p.V7V|CORO1B_ENST00000341356.5_Silent_p.V7V|CORO1B_ENST00000545016.1_Silent_p.V7V	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	7					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGCTCTGCCGGACCACTTTGC	0.612000													21	37					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079227	94079227	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94079227T>C	ENST00000553484.1	+	28	4059	c.3905T>C	c.(3904-3906)cTg>cCg	p.L1302P	UNC79_ENST00000393151.2_Missense_Mutation_p.L1280P|UNC79_ENST00000256339.4_Missense_Mutation_p.L1103P|UNC79_ENST00000555664.1_Missense_Mutation_p.L1280P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1280						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTCACCAGCTGATTACAGTG	0.507000													15	56					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38966959	38966959	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38966959G>A	ENST00000450244.1	-	5	857	c.659C>T	c.(658-660)cCc>cTc	p.P220L	SCN11A_ENST00000456224.3_Missense_Mutation_p.P220L|SCN11A_ENST00000444237.2_Missense_Mutation_p.P220L|SCN11A_ENST00000302328.3_Missense_Mutation_p.P220L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	220					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTACGCAGGGGCAATAGTTT	0.463000													15	24					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30365320	30365320	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30365320T>G	ENST00000340513.4	+	9	1289	c.761T>G	c.(760-762)gTc>gGc	p.V254G	TPX2_ENST00000300403.6_Missense_Mutation_p.V254G			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	254					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GTGAGCCAGGTCACCAAATCA	0.418000													4	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7578291T>G	ENST00000420246.2	-	6	692		c.e6-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGCCAGACCTAAGAGCAATC	0.552000		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)			16	33					0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29521266	29521266	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29521266T>A	ENST00000400338.2	+	5	546	c.493T>A	c.(493-495)Tca>Aca	p.S165T	KREMEN1_ENST00000400335.4_Missense_Mutation_p.S165T|KREMEN1_ENST00000327813.5_Missense_Mutation_p.S165T|KREMEN1_ENST00000407188.1_Missense_Mutation_p.S163T			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	163	WSC.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TGGGATGGAGTCAGGCTATGC	0.557000													8	174					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361872	9361872	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9361872C>T	ENST00000456448.1	+	1	267	c.153C>T	c.(151-153)tcC>tcT	p.S51S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGTTCCTGTCCATGTACCTGG	0.572000													31	30					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180017712	180017712	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180017712C>T	ENST00000367607.3	+	22	5082	c.4664C>T	c.(4663-4665)cCa>cTa	p.P1555L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1555	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CCTTCAGTTCCATCTTGTAAG	0.368000													30	35					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315771	50315771	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50315771G>A	ENST00000332853.3	-	2	348	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	VSTM4_ENST00000298454.3_Missense_Mutation_p.L109F	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	109	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCCTGTAGAGCGCCCCCCGC	0.617000													25	1					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33519767	33519767	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33519767A>C	ENST00000216951.2	-	10	1102	c.1004T>G	c.(1003-1005)tTt>tGt	p.F335C	GSS_ENST00000451957.2_Missense_Mutation_p.F224C|GSS_ENST00000541098.1_Missense_Mutation_p.F207C	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	335					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCCAGCAAAGGTGGCGCG	0.627000													12	62					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933408	70933408	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:70933408A>G	ENST00000264436.3	-	3	577	c.133T>C	c.(133-135)Ttc>Ctc	p.F45L	ADD2_ENST00000355733.3_Missense_Mutation_p.F45L|ADD2_ENST00000407644.2_Missense_Mutation_p.F45L|ADD2_ENST00000430656.1_Missense_Mutation_p.F61L|ADD2_ENST00000413157.2_Missense_Mutation_p.F45L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	45					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATCAGGTTGAAGTCCTGCCGC	0.682000													5	52					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70508745	70508745	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70508745G>A	ENST00000288078.6	+	18	2440	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L	FUK_ENST00000378912.2_Silent_p.L768L|FUK_ENST00000571514.1_Silent_p.L227L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	736						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGGCTGTGCTGGGCCTGGCTG	0.692000													9	1					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687431	3687431	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3687431T>C	ENST00000250699.2	-	5	1330	c.1259A>G	c.(1258-1260)aAg>aGg	p.K420R	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	420					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCCAGGCGCTTCCAGTCCTC	0.637000													23	103					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770359	112770359	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112770359C>T	ENST00000390666.3	-	1	369	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	60	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ATCTCAATTTCCCGGGGAAGG	0.488000													11	17					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014733	83014733	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83014733C>T	ENST00000307792.3	-	16	2219	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	SEMA3E_ENST00000427262.1_Silent_p.K524K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	584	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTTCTTCAGTCTTATCCAAAG	0.368000													53	65					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936527	30936527	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:30936527C>T	ENST00000355537.3	+	2	2205	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAGCCGCTCCACCACGCCGG	0.716000													14	17					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166991	140166991	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140166991C>T	ENST00000504120.2	+	1	1116	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	PCDHA1_ENST00000378133.3_Silent_p.I372I|PCDHA1_ENST00000394633.3_Silent_p.I372I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCCTCATCACCGTGTCTG	0.522000													25	25					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80750684	80750684	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:80750684C>T	ENST00000458043.2	+	48	5988	c.5982C>T	c.(5980-5982)tcC>tcT	p.S1994S	OTOGL_ENST00000547103.1_Silent_p.S1982S|OTOGL_ENST00000546620.1_Silent_p.S13S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGTTTTTCCCCTTTTTGTG	0.368000													22	0					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28119298	28119298	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:28119298T>G	ENST00000263181.6	-	2	487	c.197A>C	c.(196-198)aAg>aCg	p.K66T		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	66	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ATTTTGTTTCTTTATAACATT	0.313000													6	23					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351380	40351380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40351380C>T	ENST00000310169.2	+	4	986	c.847C>T	c.(847-849)Cag>Tag	p.Q283*		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	283					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GACTGTATTTCAGCTAATGGT	0.517000													51	103					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310241	56310241	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56310241G>A	ENST00000528616.2	-	1	516	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CAGAAGGTCAGGCGGAAGGTC	0.488000													19	24					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169639027	169639027	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169639027C>T	ENST00000428432.2	+	4	501	c.112C>T	c.(112-114)Cca>Tca	p.P38S	SAMD7_ENST00000335556.3_Missense_Mutation_p.P38S	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	38										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CACCGTAGCTCCAACTGACCC	0.413000													19	210					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6528086	6528086	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:6528086G>A	ENST00000263125.5	-	9	910	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	PRKCQ_ENST00000397176.2_Missense_Mutation_p.H271Y|PRKCQ_ENST00000539722.1_Missense_Mutation_p.H146Y	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	271					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGCATCTATGATGCACATTC	0.498000													21	34					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156866309	156866309	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156866309A>C	ENST00000295926.3	-	11	1420	c.1302T>G	c.(1300-1302)agT>agG	p.S434R	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	434					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GAGGGCTTTCACTGTGACTGC	0.403000													10	126					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31313488	31313488	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31313488G>A	ENST00000265071.2	+	8	1582	c.1317G>A	c.(1315-1317)tcG>tcA	p.S439S	CDH6_ENST00000514738.1_Silent_p.S384S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	439	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAATGGTTCGATTTTTACAT	0.393000													30	200					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528862	20528862	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20528862T>C	ENST00000315683.1	+	1	659	c.659T>C	c.(658-660)gTc>gCc	p.V220A		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCTTACATTGTCATCCTGGTC	0.458000													9	100					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965212	1965212	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:1965212G>A	ENST00000382722.5	-	22	2480	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Silent_p.I642I|CACNA2D4_ENST00000585708.1_Silent_p.I642I|CACNA2D4_ENST00000587995.1_Silent_p.I681I|CACNA2D4_ENST00000586184.1_Silent_p.I706I|CACNA2D4_ENST00000585732.1_Silent_p.I567I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	706						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGAGGAAGCGGATCATGGCCT	0.542000													21	26					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983807	51983807	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51983807G>A	ENST00000396477.4	+	2	294	c.273G>A	c.(271-273)agG>agA	p.R91R	CEACAM18_ENST00000451626.1_Silent_p.R152R	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	152						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACACTGGCAGGGAGAGAGTGA	0.542000													23	31					0	0	1	0	0
ADTRP	84830	broad.mit.edu	37	6	11723677	11723677	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:11723677A>C	ENST00000414691.3	-	5	973	c.563T>G	c.(562-564)cTc>cGc	p.L188R	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Missense_Mutation_p.L188R|ADTRP_ENST00000229583.5_Missense_Mutation_p.L206R	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	188						integral to membrane											CAAGAGGCTGAGTTTGGCAAA	0.498000													40	197					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897619	159897619	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159897619C>T	ENST00000368094.1	-	20	3486	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	IGSF9_ENST00000361509.3_Missense_Mutation_p.E1081K|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1097						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCAGCAATTCCATGTCCCCA	0.522000													40	34					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906609	29906609	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:29906609C>T	ENST00000308713.5	-	5	1351	c.824G>A	c.(823-825)aGg>aAg	p.R275K	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R205K|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R231K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	275	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCACCGCCCCTTGGGACCCG	0.567000													66	46					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823892	74823892	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74823892T>C	ENST00000256362.4	+	2	647	c.406T>C	c.(406-408)Tcc>Ccc	p.S136P		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	136					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGTGCGCTACTCCCTATGCTC	0.627000													5	44					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86361729	86361729	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:86361729C>T	ENST00000370571.2	-	30	3218	c.2852G>A	c.(2851-2853)gGa>gAa	p.G951E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G951E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	951	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCCTCTTTTTCCTTGATCTCC	0.318000													16	21					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103927	53103927	+	Missense_Mutation	SNP	G	G	A	rs1689291		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:53103927G>A	ENST00000408890.4	+	1	579	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCCAAGGGAAGCGCTAGG	0.716000													43	48					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411708	105411708	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105411708G>A	ENST00000333244.5	-	7	10199	c.10080C>T	c.(10078-10080)ctC>ctT	p.L3360L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3360						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCACAGAAGGGAGCTGAATGC	0.672000													138	126					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88651881	88651881	+	Nonstop_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88651881A>C	ENST00000340700.5	-	7	2066	c.1615T>G	c.(1615-1617)Taa>Gaa	p.*539E	KCNK10_ENST00000312350.5_Nonstop_Mutation_p.*544E|KCNK10_ENST00000319231.5_Nonstop_Mutation_p.*544E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CTTCACATTTAGTTTCTGTCT	0.453000													14	70					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297789	139297789	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:139297789T>C	ENST00000406164.1	-	4	670	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000512391.1_Missense_Mutation_p.Q73R|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000339837.5_Missense_Mutation_p.Q36R|NMNAT3_ENST00000511444.1_Missense_Mutation_p.Q36R|NMNAT3_ENST00000296202.7_Missense_Mutation_p.Q73R			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	73					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GTCGGATGTCTGCAGGGCCAG	0.577000													13	46					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33695697	33695697	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33695697C>T	ENST00000253193.7	+	4	616	c.414C>T	c.(412-414)ttC>ttT	p.F138F	LRP3_ENST00000592484.1_3'UTR	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	138	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCTGGATTTTCTTCCACTCAG	0.662000													55	71					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101911	47101911	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:47101911C>T	ENST00000261292.4	+	5	1022	c.744C>T	c.(742-744)ttC>ttT	p.F248F	LIPG_ENST00000577628.1_Silent_p.F284F|LIPG_ENST00000580036.1_Silent_p.F248F|LIPG_ENST00000427224.2_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	248					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GGGGTGACTTCCAGCCAGGCT	0.493000													15	17					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223002	78223002	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78223002C>T	ENST00000361193.3	+	16	1852	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	SLC26A11_ENST00000546047.2_Silent_p.I524I|SLC26A11_ENST00000572725.1_Silent_p.I524I|SLC26A11_ENST00000411502.3_Silent_p.I524I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	524	STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTGCAGCATCGACTACACTG	0.667000													23	1					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45620618	45620618	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:45620618C>T	ENST00000267430.5	+	5	1022	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	FANCM_ENST00000556036.1_Missense_Mutation_p.R313C|FANCM_ENST00000542564.2_Missense_Mutation_p.R287C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	313					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATCATTTGCTCGTTCTTTGAT	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				25	17					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666917	12666917	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:12666917C>T	ENST00000425538.1	+	14	3117	c.2917C>T	c.(2917-2919)Ctc>Ttc	p.L973F	MYOCD_ENST00000343344.4_Missense_Mutation_p.L925F|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	925					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTCACTGATCTCAATTTGAA	0.522000													54	5					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000117	56000117	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56000117G>A	ENST00000313264.4	-	1	620	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATTGATGAGTGGCATGTAGAC	0.443000													55	76					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028206	18028206	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18028206G>A	ENST00000262608.8	+	16	3166	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	CECR2_ENST00000400573.4_Missense_Mutation_p.E1055K|CECR2_ENST00000400585.2_Missense_Mutation_p.E913K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1097					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGTGGTTCCGAAAAGCTGCT	0.617000													17	26					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63963004	63963004	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:63963004T>C	ENST00000324472.4	-	21	2309	c.2126_splice	c.e21+1	p.K709_splice	DPY19L2_ENST00000413230.2_Splice_Site_p.K156_splice	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	709					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TAATACTCACTTAGTTCTCAC	0.294000													23	51					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592187	17592187	+	Missense_Mutation	SNP	G	G	A	rs146573703	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17592187G>A	ENST00000375460.3	+	4	420	c.380G>A	c.(379-381)gGa>gAa	p.G127E		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	127					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AACTGTGAGGGAAGGCAGGAC	0.542000													57	64					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740162	110740162	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110740162G>A	ENST00000331565.4	+	11	2241	c.1756G>A	c.(1756-1758)Gcc>Acc	p.A586T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	586					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTCACCACAGCCAGCATCAT	0.602000											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	25					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40718847	40718847	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40718847C>T	ENST00000253055.3	+	7	1976	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	563					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGGCCCAGCTCCACCCTGCAG	0.657000													28	43					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369711	126369711	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126369711C>T	ENST00000394329.3	+	9	7553	c.7540C>T	c.(7540-7542)Cac>Tac	p.H2514Y	FAT4_ENST00000335110.5_Missense_Mutation_p.H812Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2514	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAAAATTTCACATTGACCC	0.433000													13	38					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47876067	47876067	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47876067C>T	ENST00000328771.4	+	8	2198	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	617						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGTCCAGTCGCCCTTCACCCG	0.667000													22	36					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3660346	3660346	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3660346T>A	ENST00000263087.4	-	10	1201	c.1103A>T	c.(1102-1104)aAg>aTg	p.K368M		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	368	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTTGGTCACCTTGAAAGCATG	0.577000													83	206					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175048	57175048	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57175048G>A	ENST00000537055.2	-	2	1750	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCAGGCGTGGGAGCTGGGCAA	0.617000													101	202					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186076	127186076	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:127186076G>A	ENST00000371124.3	-	1	306	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	37						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCCCAAGACGGAGCTGATGAC	0.468000													46	1					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47747398	47747398	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:47747398G>A	ENST00000376954.1	+	4	423	c.54_splice	c.e4-1	p.V19_splice	ZNF81_ENST00000338637.7_Splice_Site_p.V19_splice|ZNF81_ENST00000334937.4_Splice_Site_p.V19_splice			P51508	ZNF81_HUMAN	zinc finger protein 81	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GTTGTTACAGGTATCAGTGTC	0.418000													24	3					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968030	9968030	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9968030A>G	ENST00000264833.4	-	4	674	c.489T>C	c.(487-489)atT>atC	p.I163I	OLFM2_ENST00000590841.1_Silent_p.I85I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	163						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCTCCTCCTGAATGGCCGCCA	0.642000													15	59					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782364	107782364	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:107782364T>C	ENST00000311955.3	-	1	109	c.55A>G	c.(55-57)Aag>Gag	p.K19E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	19					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGCGTATCTTCCGGAGGGCG	0.622000													24	63					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277505	44277505	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:44277505C>T	ENST00000216177.4	-	8	1264	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	PNPLA5_ENST00000381198.2_Missense_Mutation_p.G264S|PNPLA5_ENST00000597664.1_Missense_Mutation_p.G378S|PNPLA5_ENST00000593866.1_Missense_Mutation_p.G264S	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	378					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCAGCAGGCCCTGCATCCAC	0.662000													16	16					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28011316	28011316	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:28011316T>C	ENST00000381116.1	-	6	789	c.555A>G	c.(553-555)aaA>aaG	p.K185K	MTIF3_ENST00000431572.2_Silent_p.K185K|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Silent_p.K185K|MTIF3_ENST00000381120.3_Silent_p.K185K			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	185					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTAGGTGTTTTTTCTTAATCC	0.373000													5	22					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124560393	124560393	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124560393T>G	ENST00000296181.4	-	5	913	c.617A>C	c.(616-618)aAg>aCg	p.K206T	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGGAAACAACTTGTAACTAGA	0.473000													12	56					0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132377894	132377894	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:132377894T>G	ENST00000372478.4	-	4	950	c.749A>C	c.(748-750)aAg>aCg	p.K250T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	250										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CAGCGCAGCCTTGAGCCTGGG	0.687000													5	103					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127892099	127892099	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127892099T>A	ENST00000308868.4	+	2	79	c.28T>A	c.(28-30)Ttg>Atg	p.L10M		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	10					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GTGCGGATTCTTGTGGCTTTG	0.493000													5	157					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844600	128844600	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:128844600G>A	ENST00000310343.9	-	20	2449	c.2450C>T	c.(2449-2451)tCc>tTc	p.S817F	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S743F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S468F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S468F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	817					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTAAAAAGGAAGCACCACT	0.458000													12	18					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49079202	49079202	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49079202G>A	ENST00000376265.2	-	16	2275	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	CACNA1F_ENST00000323022.5_Silent_p.F727F|CACNA1F_ENST00000376251.1_Silent_p.F673F|CACNA1F_ENST00000480889.1_5'UTR	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	738					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGAGAATGATGAAATAGATGC	0.517000													24	3					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035712	17035712	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17035712G>T	ENST00000532079.1	-	2	133	c.59C>A	c.(58-60)gCa>gAa	p.A20E	PLEKHA7_ENST00000355661.3_Silent_p.R41R|PLEKHA7_ENST00000531066.1_Silent_p.R41R|PLEKHA7_ENST00000448080.2_Silent_p.R41R|OR7E14P_ENST00000530490.1_RNA			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	566	WW 1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCTCCCCGGTGCGCGGATGCA	0.761000													22	12					2.39556e-15	2.41373e-15	1	1	0
EPRS	2058	broad.mit.edu	37	1	220193456	220193456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220193456C>T	ENST00000366923.3	-	10	1492	c.1223G>A	c.(1222-1224)tGg>tAg	p.W408*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	408	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCAATAATCCAGTAAAACTG	0.393000													41	39					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818531	200818531	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200818531A>G	ENST00000358823.2	+	11	2904	c.2634A>G	c.(2632-2634)ttA>ttG	p.L878L	CAMSAP2_ENST00000413307.2_Silent_p.L862L|CAMSAP2_ENST00000236925.4_Silent_p.L889L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	889						cytoplasm|microtubule	protein binding										GAGAGATTTTAGAATATACCA	0.393000													8	150					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106819106	106819106	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:106819106G>A	ENST00000379987.2	+	2	336	c.120G>A	c.(118-120)ggG>ggA	p.G40G	NPNT_ENST00000506666.1_Silent_p.G40G|NPNT_ENST00000514622.1_Silent_p.G40G|NPNT_ENST00000453617.2_Silent_p.G40G|NPNT_ENST00000305572.8_Silent_p.G40G|NPNT_ENST00000427316.2_Silent_p.G40G	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	40					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GTTATGGTGGGAGGATTGACT	0.498000													21	36					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064800	42064800	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:42064800G>A	ENST00000400454.1	-	3	921	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	148	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCACCGAGGAGGGGATAATGC	0.537000													16	63					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543277	46543277	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:46543277G>A	ENST00000242848.4	-	14	3750	c.3402C>T	c.(3400-3402)gcC>gcT	p.A1134A	ZC3H13_ENST00000282007.3_Silent_p.A1134A|ZC3H13_ENST00000378921.2_Silent_p.A90A			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1134							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)		aaatagtgatggcagatgtgc	0.512000													4	51					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455199	37455199	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37455199T>C	ENST00000234170.5	-	2	1282	c.1137A>G	c.(1135-1137)gaA>gaG	p.E379E		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	379					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAGCCTTTTCTTCCTCAGGCT	0.413000													15	46					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675607	100675607	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100675607A>T	ENST00000306151.4	+	3	974	c.910A>T	c.(910-912)Att>Ttt	p.I304F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	304	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCACCAACATTCCTGTGAT	0.488000													134	156					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159241	118159241	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:118159241G>A	ENST00000456015.2	+	2	120	c.120G>A	c.(118-120)gaG>gaA	p.E40E	SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000521243.1_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	40					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTCCCAGAGAGAGACCAGAGG	0.502000													12	41					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105651964	105651964	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105651964A>C	ENST00000224950.3	-	8	967	c.800T>G	c.(799-801)tTt>tGt	p.F267C	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.F267C	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	267					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		AGCATTCTTAAATATACTATG	0.343000													15	16					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12791287	12791287	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12791287T>C	ENST00000314124.7	-	2	401	c.45A>G	c.(43-45)caA>caG	p.Q15Q	TMEM40_ENST00000435218.2_Silent_p.Q15Q|TMEM40_ENST00000431022.2_Silent_p.Q31Q|TMEM40_ENST00000435575.1_Silent_p.Q15Q|TMEM40_ENST00000264728.8_Silent_p.Q15Q	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	15						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CTCTGTGGACTTGACTGTTGT	0.453000													3	54					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23999861	23999861	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:23999861G>A	ENST00000303531.7	+	3	390	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	PRKCB_ENST00000321728.7_Missense_Mutation_p.E80K	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	80					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GCGGTGCCATGAATTTGTCAC	0.512000													19	50					0	0	1	0	0
RBM3	5935	broad.mit.edu	37	X	48433611	48433611	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:48433611T>C	ENST00000376759.3	+	2	106	c.43T>C	c.(43-45)Ttt>Ctt	p.F15L	RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000430348.2_5'UTR|RBM3_ENST00000376755.1_Missense_Mutation_p.F15L	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	15	RRM.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AGGGCTCAACTTTAACACCGA	0.512000											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49237773	49237773	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49237773T>G	ENST00000308025.3	-	3	349	c.270A>C	c.(268-270)cgA>cgC	p.R90R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	90	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGTCTCGATCTCGGTCCTTCT	0.493000													192	275					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48660545	48660545	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:48660545A>G	ENST00000258648.2	-	3	261	c.236T>C	c.(235-237)cTa>cCa	p.L79P	MED4_ENST00000378586.1_Missense_Mutation_p.L33P	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	79					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|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			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CAATTTCATTAGTTCTTGAAA	0.358000													4	25					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91835652	91835652	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91835652G>A	ENST00000394232.1	+	13	2392	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	SV2B_ENST00000330276.4_Missense_Mutation_p.G641E|SV2B_ENST00000545111.2_Missense_Mutation_p.G490E	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	641					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCCATCCTGGGAAACACCATC	0.473000													24	53					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186076056	186076056	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186076056C>T	ENST00000271588.4	+	70	11040	c.10811C>T	c.(10810-10812)cCt>cTt	p.P3604L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3604L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3604	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCATCCAGTCCTGCAGGAGAT	0.348000													26	90					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21827781	21827781	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:21827781T>A	ENST00000434536.1	+	4	488	c.386T>A	c.(385-387)gTc>gAc	p.V129D	XPO7_ENST00000252512.9_Missense_Mutation_p.V129D|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Missense_Mutation_p.V130D			Q9UIA9	XPO7_HUMAN	exportin 7	129					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GATGACTATGTCTTCAGAAAT	0.393000													10	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179572401	179572401	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179572401C>T	ENST00000589042.1	-	100	29117	c.28893G>A	c.(28891-28893)aaG>aaA	p.K9631K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.K9314K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.K8387K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9314							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)			TGTCTGAAGGCTTTATTTCCC	0.488000													32	19					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16738474	16738474	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:16738474C>T	ENST00000380672.4	-	2	70	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	BNC2_ENST00000380666.2_Missense_Mutation_p.G5R|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Missense_Mutation_p.G5R	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGGTGGGCCCAAGGTGTGCC	0.423000													7	19					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18323328	18323328	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:18323328G>A	ENST00000251900.4	-	7	653	c.494C>T	c.(493-495)cCa>cTa	p.P165L		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	165					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGGGGCTTTGGTGGTTCCTA	0.363000													31	35					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517932	1517932	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:1517932T>G	ENST00000381623.3	-	3	1635	c.446A>C	c.(445-447)aAc>aCc	p.N149T	SIRPD_ENST00000381621.1_Missense_Mutation_p.N150T			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	149						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGCAGGTCTGTTCTTGGGAGG	0.522000													28	121					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70710827	70710827	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70710827A>G	ENST00000338779.6	-	10	1061	c.787T>C	c.(787-789)Tca>Cca	p.S263P		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	263	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CTGGGTGATGAGGGTGGGGTC	0.622000													8	19					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957435	49957435	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49957435G>A	ENST00000376056.2	-	5	2052	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	AKAP4_ENST00000358526.2_Silent_p.F643F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.F260F|AKAP4_ENST00000376064.3_Silent_p.F634F			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	643					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTCACATTTGAAGGGGTTCT	0.458000													75	4					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25422029	25422029	+	RNA	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25422029A>T	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							GATGACTTAAAAATCATGCTC	0.522000													92	113					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244627250	244627250	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:244627250A>T	ENST00000366534.4	+	2	160	c.106A>T	c.(106-108)Aga>Tga	p.R36*	C1orf101_ENST00000366531.3_Intron|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Nonsense_Mutation_p.R36*	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	36						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTTTAGTACCAGAAGTACTGT	0.294000													7	70					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837298	12837298	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12837298T>C	ENST00000357726.4	+	3	1035	c.1008T>C	c.(1006-1008)ccT>ccC	p.P336P		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	336										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTCAGTCCTGAGCCCCTCT	0.577000													10	119					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830854	13830854	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:13830854C>T	ENST00000284951.5	-	19	2004	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N	SEL1L2_ENST00000378072.5_Missense_Mutation_p.D531N|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	644						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AACAGGATATCCCGGAGCAAA	0.473000													11	31					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25168014	25168014	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:25168014C>T	ENST00000276440.7	+	13	1328	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	428						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGCAATAGCCCGGAAGATGG	0.463000													6	32					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73789661	73789661	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73789661A>G	ENST00000334126.7	-	23	4328	c.4102T>C	c.(4102-4104)Tcc>Ccc	p.S1368P	C2CD3_ENST00000313663.7_Missense_Mutation_p.S1368P			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1368						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCGTGAAGGAAATCGAAAGC	0.502000													49	54					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026296	16026296	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:16026296C>T	ENST00000350896.3	-	4	498	c.301G>A	c.(301-303)Gga>Aga	p.G101R	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.G101R|MSR1_ENST00000445506.2_Missense_Mutation_p.G119R|MSR1_ENST00000355282.2_Missense_Mutation_p.G101R|MSR1_ENST00000381998.4_Missense_Mutation_p.G101R	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	101	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G101R(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGTCATTTCCTTTTCCCGTG	0.373000													53	87					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885298	60885298	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60885298A>T	ENST00000252999.3	-	77	10736	c.10670T>A	c.(10669-10671)cTg>cAg	p.L3557Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3557	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGAAGATCAGTCCGGTGAC	0.637000													23	55					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515919	101515919	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:101515919C>T	ENST00000553692.1	+	0	28				MIR655_ENST00000362159.2_RNA																							AGAGGTTATCCGTGTTATGTT	0.463000													35	37					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704331	68704331	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68704331C>T	ENST00000255078.3	+	13	2494	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	795	Gln/Pro-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCCCTGGGACCCCCAGCAGG	0.706000													17	16					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525538	61525538	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61525538G>A	ENST00000266070.4	-	12	2906	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P861S|DIDO1_ENST00000395335.2_Missense_Mutation_p.P861S|DIDO1_ENST00000395340.1_Missense_Mutation_p.P861S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	861					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTGCGGAGGGAACCTGGCCT	0.493000													54	64					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23848683	23848683	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23848683G>A	ENST00000359320.3	+	5	902	c.457_splice	c.e5-1	p.G153_splice	CMTM5_ENST00000382809.2_Splice_Site_p.G122_splice|CMTM5_ENST00000342473.4_Splice_Site_p.G71_splice|CMTM5_ENST00000397227.3_Splice_Site_p.G102_splice|CMTM5_ENST00000555731.1_Splice_Site_p.G115_splice|CMTM5_ENST00000339180.4_Splice_Site_p.G220_splice	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	220	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		ATCCTCACAGGGGACCAGCAG	0.632000													15	38					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41021099	41021099	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41021099G>A	ENST00000244669.2	+	1	57	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	5					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCCAGAAGGAAGAGGCTGC	0.637000													14	45					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12805448	12805448	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12805448A>G	ENST00000380339.3	-	3	674	c.638T>C	c.(637-639)cTg>cCg	p.L213P	FBXW9_ENST00000587955.1_Missense_Mutation_p.L203P|FBXW9_ENST00000393261.3_Missense_Mutation_p.L213P|FBXW9_ENST00000544494.1_5'UTR			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	213							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGTCTTGATCAGAACCTGGTT	0.572000													10	34					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125487000	125487000	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125487000C>T	ENST00000259466.1	+	1	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTGTGGCTCCCACCTCACTG	0.522000													34	75					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17766155	17766155	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:17766155C>T	ENST00000581396.1	-	10	1038	c.942G>A	c.(940-942)ggG>ggA	p.G314G	TOM1L2_ENST00000478943.1_Silent_p.G97G|TOM1L2_ENST00000542206.1_Silent_p.G216G|TOM1L2_ENST00000395739.4_Silent_p.G319G|TOM1L2_ENST00000540946.1_Silent_p.G266G|TOM1L2_ENST00000535933.1_Silent_p.G311G|TOM1L2_ENST00000318094.10_Silent_p.G319G|TOM1L2_ENST00000379504.3_Silent_p.G364G	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	364					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CGCTCTCTGTCCCCAAGTCTG	0.537000													81	3					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320538	136320538	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:136320538T>C	ENST00000371929.3	+	25	3825	c.3381T>C	c.(3379-3381)gcT>gcC	p.A1127A	ADAMTS13_ENST00000356589.2_Silent_p.A1096A|ADAMTS13_ENST00000355699.2_Silent_p.A1127A|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1127	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTGCTGGGCTGGGCCCTGTG	0.697000													26	80					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139576	142139576	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142139576C>T	ENST00000390374.3	-	0	94																											CCTGTGTGATCTGTGGAAATA	0.488000													28	17					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18745686	18745686	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18745686T>C	ENST00000513874.1	-	2	237	c.98A>G	c.(97-99)aAg>aGg	p.K33R	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	33										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCCCACGATCTTGGTTGTCTG	0.587000													18	81					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114360	10114360	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10114360G>A	ENST00000264828.3	-	6	815	c.730C>T	c.(730-732)Cct>Tct	p.P244S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	244	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTCCGCCGAGGACGAGGGGTT	0.582000													12	42					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150499314C>T	ENST00000484928.1	+	3	767	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176A_ENST00000461345.1_Silent_p.I3I|TMEM176A_ENST00000004103.3_Silent_p.I62I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000													41	48					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127101923	127101923	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127101923C>T	ENST00000373600.3	+	9	1013	c.798C>T	c.(796-798)tcC>tcT	p.S266S	NEK6_ENST00000394199.2_Silent_p.S266S|NEK6_ENST00000540326.1_Silent_p.S250S|NEK6_ENST00000320246.5_Silent_p.S232S|NEK6_ENST00000546191.1_Silent_p.S232S|NEK6_ENST00000539416.1_Silent_p.S257S|NEK6_ENST00000373603.1_Silent_p.S232S|NEK6_ENST00000545174.1_Silent_p.S232S	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	232	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						ACATCTGGTCCCTGGGCTGTC	0.602000													25	67					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371360	34371360	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:34371360C>T	ENST00000297625.7	-	2	1705	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	528					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AACCCCAGGTCGTAGCCCCAC	0.637000													12	11					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255339	30255339	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30255339T>C	ENST00000303775.5	-	2	214	c.189A>G	c.(187-189)ctA>ctG	p.L63L	N6AMT1_ENST00000351429.3_Silent_p.L63L	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	63					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TCATAGAGGCTAGGAATGCAG	0.338000													14	47					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	712435	712435	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:712435A>T	ENST00000382303.1	+	7	2321	c.1669A>T	c.(1669-1671)Aat>Tat	p.N557Y	KANK1_ENST00000382293.3_Missense_Mutation_p.N399Y|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.N557Y	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	557					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGAATGTAAGAATAAAGTCGT	0.512000													8	79					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779950	50779950	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:50779950C>T	ENST00000404971.1	-	10	2993	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	NRXN1_ENST00000406859.3_Missense_Mutation_p.E512K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E512K|NRXN1_ENST00000405472.3_Missense_Mutation_p.E504K|NRXN1_ENST00000401669.2_Missense_Mutation_p.E512K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E504K|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	512	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCATTTGGCTCTGTTGTACGG	0.418000													21	45					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21215499	21215499	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:21215499A>G	ENST00000574002.1	-	10	1306	c.824T>C	c.(823-825)cTc>cCc	p.L275P	ZP2_ENST00000574091.1_Missense_Mutation_p.L275P|ZP2_ENST00000219593.4_Missense_Mutation_p.L275P|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	275					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGGTATGGTGAGAGTCATGTG	0.453000													21	47					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509528	71509528	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71509528A>C	ENST00000396073.3	+	9	2666	c.2385A>C	c.(2383-2385)aaA>aaC	p.K795N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	795					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTTACAAAAAGCCCCAGCTA	0.473000													12	56					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368504	145368504	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145368504T>G	ENST00000342960.5	+	84	10517	c.10482T>G	c.(10480-10482)tgT>tgG	p.C3494W	NBPF10_ENST00000369339.2_Missense_Mutation_p.C612W|NBPF10_ENST00000369338.1_Missense_Mutation_p.C610W	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3494										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGATAGATGTTATTCGACTC	0.463000													31	527					0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520829	153520829	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153520829A>C	ENST00000368713.3	-	2	329	c.133T>G	c.(133-135)Tgg>Ggg	p.W45G	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.W45G	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	45	EF-hand 1.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCGGGGTCCAGGTGGCCAGC	0.617000													5	178					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789736	130789736	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130789736A>C	ENST00000276708.4	-	2	979	c.98T>G	c.(97-99)tTa>tGa	p.L33*		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	33						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AAACTGACGTAATTTGGTGGC	0.398000													27	97					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50247564	50247564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50247564G>A	ENST00000246801.3	-	8	1367	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.Q229*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	429							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGAGAGTTCTGAAATTGCCGC	0.617000													27	26					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573154	44573154	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44573154G>A	ENST00000289547.4	-	8	2340	c.2285C>T	c.(2284-2286)gCc>gTc	p.A762V	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A762V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P724S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A762V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	762	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGGGTCAGGGCCCCTGTGAG	0.612000													38	42					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22163357	22163357	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22163357G>A	ENST00000374695.3	-	75	10372	c.10293C>T	c.(10291-10293)ctC>ctT	p.L3431L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3431	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGAACCAACGGAGCTGGGTAC	0.667000													5	6					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003312	120003312	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:120003312A>G	ENST00000354888.5	+	3	744	c.240A>G	c.(238-240)gcA>gcG	p.A80A	STEAP3_ENST00000409811.1_Silent_p.A80A|STEAP3_ENST00000393107.2_Silent_p.A80A|STEAP3_ENST00000393108.2_Silent_p.A80A|STEAP3_ENST00000450943.2_Silent_p.A80A|STEAP3_ENST00000393106.2_Silent_p.A80A|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Silent_p.A80A|STEAP3_ENST00000393110.2_Silent_p.A90A	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	80					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						AAGAGGAGGCAGTGAGCTCCC	0.602000													5	24					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767955	39767955	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39767955C>T	ENST00000301653.4	-	2	614	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	184	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGCGCATTCTCAATGGTGGCC	0.577000													11	0					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911653	107911653	+	Missense_Mutation	SNP	C	C	T	rs104886393		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:107911653C>T	ENST00000328300.6	+	41	3953	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1237S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1237	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCAGGGTCCCCCAGGCCCTCC	0.602000									Alport syndrome with Diffuse Leiomyomatosis				22	0					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20028411	20028411	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20028411C>T	ENST00000377340.2	-	6	1134	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R356Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R207Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	368					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAGGATATATCGCTCATAAAT	0.507000													9	52					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079356	10079356	+	Missense_Mutation	SNP	C	C	T	rs145643115		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10079356C>T	ENST00000264828.3	-	58	4286	c.4201G>A	c.(4201-4203)Gaa>Aaa	p.E1401K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1401	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTACCTTTTCCCCCTTGGGG	0.582000													5	9					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3742419	3742419	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3742419A>G	ENST00000378230.3	-	18	2591	c.2267T>C	c.(2266-2268)tTt>tCt	p.F756S		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	756						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCCCACAAAAAATACACAA	0.463000													12	86					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110926051	110926051	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:110926051A>C	ENST00000316534.4	-	6	675	c.602T>G	c.(601-603)cTt>cGt	p.L201R	NPHP1_ENST00000393272.3_Missense_Mutation_p.L201R|NPHP1_ENST00000355301.4_Missense_Mutation_p.L139R|NPHP1_ENST00000417665.1_Missense_Mutation_p.L201R|NPHP1_ENST00000445609.2_Missense_Mutation_p.L201R			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	201	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TCTGGGAACAAGACCTTCATT	0.343000													20	44					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57073746	57073746	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57073746A>C	ENST00000436936.1	+	16	3080	c.2855A>C	c.(2854-2856)aAg>aCg	p.K952T	NLRC5_ENST00000539144.1_Missense_Mutation_p.K952T|NLRC5_ENST00000308149.7_Missense_Mutation_p.K952T|NLRC5_ENST00000262510.6_Missense_Mutation_p.K952T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	952					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGAGCAGAAGGGGCCCCAG	0.577000													7	71					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81970632	81970632	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:81970632T>C	ENST00000336735.4	-	5	643	c.527A>G	c.(526-528)aAg>aGg	p.K176R	SEL1L_ENST00000555824.1_Missense_Mutation_p.K176R	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	176	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTGCCGTCTCTTAGCAGCCTC	0.358000													4	71					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127464	45127464	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:45127464C>T	ENST00000296129.1	-	9	2311	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	726						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTGTCCTTTCGCCCTTTCTG	0.493000													98	71					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104079749	104079749	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104079749G>A	ENST00000374874.3	+	7	1355	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	LPPR1_ENST00000395056.2_Missense_Mutation_p.E306K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		306						integral to membrane	catalytic activity										CCCAAGGATAGAAAGCCCTCT	0.468000													28	48					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722110	196722110	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196722110G>A	ENST00000312428.6	-	44	8505	c.8405C>T	c.(8404-8406)tCa>tTa	p.S2802L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2802	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTATCATATGAATCCATTGC	0.343000													23	14					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924673	150924673	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150924673G>A	ENST00000261800.5	-	9	6027	c.6015C>T	c.(6013-6015)ctC>ctT	p.L2005L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2005	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCATTCAAGAGAAAGTAGG	0.502000													26	20					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35620618	35620618	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:35620618A>G	ENST00000353139.5	-	11	1780	c.1299T>C	c.(1297-1299)gcT>gcC	p.A433A	ACACA_ENST00000394406.2_Silent_p.A396A|ACACA_ENST00000360679.3_Silent_p.A338A|ACACA_ENST00000335166.5_Silent_p.A318A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	396	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGCTGGAGTAGCAATAGTAG	0.373000													12	139					0	0	1	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52035376	52035376	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52035376C>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000595997.1_RNA																							GATTTCTCTTCCCTGAGGAAA	0.458000													11	14					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733000	164733000	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164733000C>T	ENST00000264382.3	-	33	3972	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1304	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTTGTTTCATTTCCTGAA	0.353000										HNSCC(35;0.089)			18	39					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103428225	103428225	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103428225C>T	ENST00000358392.2	-	39	3361	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G887E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1003E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G964E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1003	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTCTTTTCCTGCAGCACC	0.473000													20	71					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72110079	72110079	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:72110079G>A	ENST00000563709.1	+	0	279																											ctactgaaacgaaacatttgc	0.428000													5	1					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192362	66192362	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66192362C>T	ENST00000311034.2	+	7	2177	c.2001C>T	c.(1999-2001)ccC>ccT	p.P667P		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	667					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GACTGGAGCCCCTGGACTCCA	0.617000													103	112					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995539	63995539	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:63995539G>A	ENST00000370658.5	-	3	316	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	LGSN_ENST00000370657.4_Missense_Mutation_p.L95F	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	95					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACGCCGTGGAGGTCTGTTGCT	0.418000													23	15					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381109	147381109	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:147381109G>A	ENST00000240986.4	+	2	1080	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	GJA8_ENST00000369235.1_Missense_Mutation_p.E343K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	343					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E343K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGAGGGAGCCGAACCCGAGGT	0.657000													13	6					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	624595	624595	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:624595C>T	ENST00000264935.5	+	4	503	c.413C>T	c.(412-414)cCc>cTc	p.P138L	CEP72_ENST00000444221.1_Missense_Mutation_p.P138L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	138	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GACGATCGCCCCGTGAGAGCA	0.597000													20	48					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90340883	90340883	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:90340883G>A	ENST00000300060.6	-	15	2393	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	694	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCCTCCCAGGGCATGTACTGT	0.557000													39	103					0	0	1	0	0
CTDSPL	10217	broad.mit.edu	37	3	38017265	38017265	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38017265A>T	ENST00000443503.2	+	6	792	c.552A>T	c.(550-552)gaA>gaT	p.E184D	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Missense_Mutation_p.E195D	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	195	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TCTTCAGAGAATCATGTGTTT	0.537000													17	76					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149776370	149776370	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149776370C>T	ENST00000451292.1	+	25	4526	c.4418C>T	c.(4417-4419)cCa>cTa	p.P1473L	TCOF1_ENST00000323668.7_Missense_Mutation_p.P1359L|TCOF1_ENST00000377797.3_Missense_Mutation_p.P1437L|TCOF1_ENST00000439160.2_Missense_Mutation_p.P1399L|TCOF1_ENST00000504761.2_Missense_Mutation_p.P1436L|TCOF1_ENST00000445265.2_Missense_Mutation_p.P1360L|TCOF1_ENST00000513346.1_Missense_Mutation_p.P1436L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1436					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGCAACCCAAAGAGCAAG	0.602000													3	5					0	0	1	0	0
RPS4Y1	6192	broad.mit.edu	37	Y	2712177	2712177	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:2712177C>T	ENST00000250784.8	+	3	280	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_001008.3	NP_000999.1			ribosomal protein S4, Y-linked 1											kidney(1)|lung(2)	3						TGATCGTCTTCCTCAGGAATA	0.453000													87	2					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9580358	9580358	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9580358G>A	ENST00000301480.4	-	8	690	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	159	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCAGCCAAGAGATCAGACTGG	0.473000													8	32					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90647974	90647974	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:90647974T>C	ENST00000257749.4	-	8	2639	c.1932A>G	c.(1930-1932)ttA>ttG	p.L644L	BACH2_ENST00000343122.3_Silent_p.L644L|BACH2_ENST00000537989.1_Silent_p.L644L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	644						nucleus	protein dimerization activity|sequence-specific DNA binding	p.L644L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAATAAACTCTAACTGTTCTG	0.433000													6	34					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582747	158582747	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158582747C>T	ENST00000368148.3	-	51	7174	c.6994G>A	c.(6994-6996)Ggc>Agc	p.G2332S	SPTA1_ENST00000368147.3_Missense_Mutation_p.G2329S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2332	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGACATAGCCCTTCCTGTGG	0.478000													21	25					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045673	53045673	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:53045673C>T	ENST00000276480.7	-	21	3071	c.2388G>A	c.(2386-2388)agG>agA	p.R796R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	796						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CACCACCTTTCCTTGCACGAG	0.478000													43	59					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190355	58190355	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:58190355G>A	ENST00000302581.2	-	1	431	c.380C>T	c.(379-381)cCc>cTc	p.P127L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGTGTAGGGGTTTGCACAC	0.527000													30	36					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130764114	130764114	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130764114G>A	ENST00000276708.4	-	9	1791	c.910C>T	c.(910-912)Cca>Tca	p.P304S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	304						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCACCTACTGGGAGGATGTGA	0.502000													113	140					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125255479	125255479	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:125255479T>G	ENST00000298282.9	+	6	531	c.260T>G	c.(259-261)tTt>tGt	p.F87C	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.F23C	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	87						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ACGCTGCTGTTTGAGAAATGT	0.567000													12	44					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56174988	56174988	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56174988A>G	ENST00000450554.2	+	7	1579	c.620A>G	c.(619-621)gAg>gGg	p.E207G	U2AF2_ENST00000308924.4_Missense_Mutation_p.E207G|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.E43G	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	207	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCAGTGGACGAGACTACCCAG	0.547000													13	321					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35792451	35792451	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35792451G>A	ENST00000440995.2	+	31	4442	c.4442G>A	c.(4441-4443)gGa>gAa	p.G1481E	SPEF2_ENST00000356031.3_Missense_Mutation_p.G1486E|SPEF2_ENST00000303129.4_Missense_Mutation_p.G283E|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1486					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATAATAGGAAATAAAGCA	0.338000													21	61					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158059975	158059975	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:158059975G>A	ENST00000264428.4	+	7	895	c.625G>A	c.(625-627)Gat>Aat	p.D209N	GLRB_ENST00000509282.1_Missense_Mutation_p.D209N|GLRB_ENST00000541722.1_Missense_Mutation_p.D209N|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	209					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTACACAACTGATGATTTACG	0.254000													11	30					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763773	23763773	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23763773T>C	ENST00000336689.3	-	14	1236	c.1192A>G	c.(1192-1194)Agc>Ggc	p.S398G	ASAP3_ENST00000437606.2_Missense_Mutation_p.S389G|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	398					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AAGGCGCTGCTCAGGGCTTCG	0.667000													4	26					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033166	20033166	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20033166C>T	ENST00000377340.2	-	2	335	c.304G>A	c.(304-306)Gga>Aga	p.G102R	CRNKL1_ENST00000377327.4_Missense_Mutation_p.G90R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	102					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCACCGTTTCCATGGTGACCA	0.617000													20	53					0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111196329	111196329	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111196329C>T	ENST00000368885.3	+	1	357	c.21C>T	c.(19-21)ttC>ttT	p.F7F	AMD1_ENST00000368877.5_Silent_p.F7F|AMD1_ENST00000368882.3_5'UTR|AMD1_ENST00000451850.2_Silent_p.F7F	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	7					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CACATTTTTTCGAAGGGACCG	0.562000													11	0					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49728662	49728662	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49728662G>A	ENST00000327697.6	+	2	208	c.64G>A	c.(64-66)Gag>Aag	p.E22K	RNF123_ENST00000432042.1_Intron	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	22						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCAGATGCTGAGAAATCCAG	0.587000													27	13					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116277703	116277703	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:116277703G>A	ENST00000606080.1	-	5	1316	c.870C>T	c.(868-870)atC>atT	p.I290I	FRK_ENST00000538210.1_Silent_p.I148I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	290	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CATAAAGCTGGATAAGCTTTG	0.373000													55	6					0	0	1	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69424032	69424032	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:69424032C>T	ENST00000357336.3	+	15	2609	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	776										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAAGACTTCGTGCTAGAAG	0.348000													48	104					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107260918	107260918	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:107260918C>T	ENST00000282251.5	-	12	1781	c.1754G>A	c.(1753-1755)aGa>aAa	p.R585K	CWF19L2_ENST00000433523.1_Missense_Mutation_p.R585K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	585							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GACCCTTTCTCTTTCCTCATG	0.303000													3	0					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1154280	1154280	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1154280C>T	ENST00000356191.2	+	2	126	c.126C>T	c.(124-126)ctC>ctT	p.L42L						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		ACCCTGCCCTCTCTCCTATCG	0.672000													11	15					0	0	1	0	0
FAM122A	116224	broad.mit.edu	37	9	71395913	71395913	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:71395913T>G	ENST00000394264.3	+	1	950	c.833T>G	c.(832-834)tTt>tGt	p.F278C	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	278										endometrium(1)|lung(2)	3						GCTTCTCCATTTATTCCACTA	0.473000													62	143					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4544397	4544397	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4544397C>T	ENST00000586582.1	-	17	2193	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	SEMA6B_ENST00000586965.1_Intron|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R628Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	628					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGCTCCCGCCGCTCACG	0.731000													3	10					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19679971	19679971	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:19679971T>G	ENST00000397977.3	+	5	861	c.463T>G	c.(463-465)Tta>Gta	p.L155V	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	155					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGAGGCACTATTAGAGGCTGA	0.318000													8	42					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19682404	19682404	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:19682404A>G	ENST00000397977.3	+	8	1325	c.927A>G	c.(925-927)caA>caG	p.Q309Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	309					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATAAAAACCAAGTGGTGTATT	0.368000													4	42					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432449	140432449	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140432449A>C	ENST00000306549.3	+	1	1471	c.1394A>C	c.(1393-1395)aAc>aCc	p.N465T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		465	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)			CGAGAAAACAACAGTCCTGCG	0.413000													10	26					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884860	23884860	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23884860C>G	ENST00000355349.3	-	35	5297	c.5135G>C	c.(5134-5136)cGg>cCg	p.R1712P	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1712			R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCTGCACCCGCTCACTAGT	0.612000													14	55					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447811	38447811	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38447811A>C	ENST00000209728.4	+	4	1022	c.551A>C	c.(550-552)aAt>aCt	p.N184T		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	184					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GTCATCAGGAATTTCTTGAGG	0.517000													12	64					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140469211	140469211	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140469211T>G	ENST00000277540.2	-	4	617	c.460A>C	c.(460-462)Act>Cct	p.T154P	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		TACCTTCCAGTTTTCCCAGTG	0.557000													36	123					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27497254	27497254	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27497254A>G	ENST00000396271.3	-	10	1451	c.1325T>C	c.(1324-1326)cTc>cCc	p.L442P	ACBD5_ENST00000375905.4_Missense_Mutation_p.L407P|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.L451P|ACBD5_ENST00000375901.1_Missense_Mutation_p.L333P|ACBD5_ENST00000375897.3_Missense_Mutation_p.L265P	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	451					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CATCAGCACGAGGGCGATCTG	0.567000													14	167					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689252	49689252	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49689252G>A	ENST00000296452.4	+	5	2377	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	755					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.E755K(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGTACTGGCGAGGAGCAGAA	0.627000													17	34					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433289	55433289	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55433289A>G	ENST00000314259.3	+	1	676	c.647A>G	c.(646-648)tAc>tGc	p.Y216C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y216F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATTGCGTCCTACACGGTCATC	0.512000													17	71					0	0	1	0	0
GMFG	9535	broad.mit.edu	37	19	39819138	39819138	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39819138T>A	ENST00000597595.1	-	7	616	c.408A>T	c.(406-408)gaA>gaT	p.E136D	GMFG_ENST00000594700.1_Missense_Mutation_p.E67D|GMFG_ENST00000253054.8_Missense_Mutation_p.E103D|GMFG_ENST00000602185.1_Missense_Mutation_p.E87D|GMFG_ENST00000601387.1_Missense_Mutation_p.E95D|GMFG_ENST00000598034.1_3'UTR|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000600322.1_Missense_Mutation_p.E103D	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	136	ADF-H.		E -> K (in dbSNP:rs34035414).		protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AAGACAACTTTTCTTGGAGCC	0.512000													19	77					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093778	40093778	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40093778T>C	ENST00000299092.3	-	4	1298	c.1100A>G	c.(1099-1101)cAg>cGg	p.Q367R	GPR176_ENST00000543580.1_Missense_Mutation_p.Q323R|GPR176_ENST00000561100.1_Missense_Mutation_p.Q368R	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	368					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCCAGGAGCTGGCTACCCGA	0.567000													16	75					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009024	65009024	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65009024A>C	ENST00000247207.6	+	1	1839	c.1457A>C	c.(1456-1458)aAt>aCt	p.N486T	HSPA2_ENST00000394709.1_Missense_Mutation_p.N486T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	486					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ATTGACGCCAATGGCATCCTT	0.547000													15	51					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38561815	38561815	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38561815A>C	ENST00000481247.1	-	3	625	c.474T>G	c.(472-474)acT>acG	p.T158T	BTBD9_ENST00000314100.6_Silent_p.T90T|BTBD9_ENST00000419706.2_Silent_p.T99T|BTBD9_ENST00000403056.1_Silent_p.T158T|BTBD9_ENST00000408958.1_Silent_p.T90T	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	158	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGCACATACAAGTTAACTTGG	0.408000													46	262					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070548	9070548	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9070548G>A	ENST00000397910.4	-	3	17101	c.16898C>T	c.(16897-16899)tCc>tTc	p.S5633F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5635	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						TGACATCAGGGAAAACCCAGA	0.527000													13	15					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60887039	60887039	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:60887039T>C	ENST00000347785.3	+	5	963	c.797T>C	c.(796-798)cTt>cCt	p.L266P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	266	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTTGCCCTCCTTTGCTCAGGT	0.542000													12	33					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105346728	105346728	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105346728C>T	ENST00000453495.1	+	6	666	c.438C>T	c.(436-438)ccC>ccT	p.P146P	CEP170B_ENST00000414716.3_Silent_p.P146P|CEP170B_ENST00000418279.1_Silent_p.P76P|CEP170B_ENST00000556508.1_Silent_p.P76P					centrosomal protein 170B																		CCTCGAACCCCAGGCCGGAGA	0.657000													17	31					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50923208	50923208	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50923208A>G	ENST00000595883.1	+	2	54	c.29A>G	c.(28-30)gAc>gGc	p.D10G	SPIB_ENST00000270632.7_Missense_Mutation_p.D10G|SPIB_ENST00000597855.1_Missense_Mutation_p.D10G|SPIB_ENST00000439922.2_5'UTR|SPIB_ENST00000596074.1_Missense_Mutation_p.D10G	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	10	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCCAGGCTCGACGGGCCACAC	0.647000													6	13					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2512522	2512522	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2512522C>T	ENST00000569496.1	+	7	916	c.857C>T	c.(856-858)tCg>tTg	p.S286L	C16orf59_ENST00000563531.1_Missense_Mutation_p.S286L|C16orf59_ENST00000361837.4_Missense_Mutation_p.S286L|C16orf59_ENST00000483320.1_Missense_Mutation_p.S119L			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	286										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GAGGAGCTCTCGGCAGGTCAG	0.687000													12	6					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179095	107179095	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107179095G>A	ENST00000390634.2	-	0	157																											ACCAGCGCAGGACCAGACTCC	0.512000													22	48					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620085	40620085	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40620085A>G	ENST00000343619.4	+	4	377	c.254A>G	c.(253-255)aAc>aGc	p.N85S	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.N85S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.N85S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.N85S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.N85S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.N85S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	85					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)		ACCGGTGAAAACCCAGAGGTT	0.398000													19	38					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100238580	100238580	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:100238580C>T	ENST00000231461.5	-	1	390	c.80G>A	c.(79-81)aGa>aAa	p.R27K	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R27K	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	27					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTCCTCAGTTCTTGCTATTTC	0.428000													12	18					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338606	186338606	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:186338606G>A	ENST00000411641.2	+	7	1210	c.991G>A	c.(991-993)Gga>Aga	p.G331R	AHSG_ENST00000273784.5_Missense_Mutation_p.G332R			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	331					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTCACCCTCAGGAGAAGTGTC	0.612000													132	54					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68968077	68968077	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:68968077G>A	ENST00000288368.4	+	10	1383	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	369					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTAAAATTAGGAATGGAGCAA	0.353000													24	20					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	406954	406954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:406954C>T	ENST00000432829.2	+	28	3527	c.3211C>T	c.(3211-3213)Cag>Tag	p.Q1071*	DOCK8_ENST00000453981.1_Nonsense_Mutation_p.Q1139*|DOCK8_ENST00000382329.1_Nonsense_Mutation_p.Q606*|DOCK8_ENST00000469391.1_Nonsense_Mutation_p.Q1039*	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1139					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTCCAGCTTCCAGGACCAGAA	0.522000													32	83					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51883809	51883809	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51883809G>A	ENST00000221973.3	-	4	578	c.536C>T	c.(535-537)tCc>tTc	p.S179F	LIM2_ENST00000596399.1_Missense_Mutation_p.S137F	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	137					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GTAGGACCAGGAAAAGCGCCA	0.637000													116	125					0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61646236	61646236	+	Silent	SNP	G	G	A	rs115282539	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61646236G>A	ENST00000540820.1	-	4	678	c.606C>T	c.(604-606)ttC>ttT	p.F202F	FADS3_ENST00000278829.2_Silent_p.F202F|FADS3_ENST00000527697.1_Silent_p.F78F|FADS3_ENST00000525588.1_Silent_p.F174F			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	202					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCCCATCACGAACTTCTGGG	0.642000													15	54					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249226	238249226	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238249226A>G	ENST00000295550.4	-	38	8785	c.8333T>C	c.(8332-8334)gTg>gCg	p.V2778A	COL6A3_ENST00000353578.4_Missense_Mutation_p.V2572A|COL6A3_ENST00000347401.3_Missense_Mutation_p.V2577A|COL6A3_ENST00000346358.4_Missense_Mutation_p.V2578A|COL6A3_ENST00000472056.1_Missense_Mutation_p.V2171A|COL6A3_ENST00000409809.1_Missense_Mutation_p.V2572A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2778	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTGATGTTCACCTTCCTGCC	0.567000													6	61					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563217	36563217	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36563217C>T	ENST00000397799.1	-	4	2289	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	COL8A2_ENST00000481785.1_Missense_Mutation_p.E624K|COL8A2_ENST00000303143.4_Missense_Mutation_p.E689K			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	689	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGATGTACTCCGTGGAGTAG	0.647000													50	29					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17827233	17827233	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:17827233C>T	ENST00000325083.8	+	22	3999	c.3560C>T	c.(3559-3561)tCc>tTc	p.S1187F	PCM1_ENST00000524226.1_Missense_Mutation_p.S1188F|PCM1_ENST00000519253.1_Missense_Mutation_p.S1187F	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1187					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAAAGCAGTTCCTCTATTGGA	0.353000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								25	58					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110026687	110026687	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110026687C>T	ENST00000369870.3	+	1	127	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	38										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCGGGCCGACCTGCCCGCGGC	0.706000													5	49					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78166352	78166352	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78166352G>A	ENST00000573882.1	+	11	1826	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	CARD14_ENST00000392434.2_Silent_p.R193R|CARD14_ENST00000344227.2_Silent_p.R430R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.R430R			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	430					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGAAGCAGCGGCTGGTGCGGA	0.632000													25	52					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277504	44277504	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:44277504C>T	ENST00000216177.4	-	8	1265	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D	PNPLA5_ENST00000381198.2_Missense_Mutation_p.G264D|PNPLA5_ENST00000597664.1_Missense_Mutation_p.G378D|PNPLA5_ENST00000593866.1_Missense_Mutation_p.G264D	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	378					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTCAGCAGGCCCTGCATCCA	0.662000													16	16					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102249852	102249852	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:102249852T>G	ENST00000370345.3	-	21	2975	c.2878A>C	c.(2878-2880)Agc>Cgc	p.S960R		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	960	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACAGGGAAGCTTGCAGGAGGG	0.607000													16	52					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991876	67991876	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67991876G>A	ENST00000422611.2	-	3	459	c.420C>T	c.(418-420)ttC>ttT	p.F140F	SLC12A4_ENST00000576616.1_Silent_p.F138F|SLC12A4_ENST00000537830.2_Silent_p.F132F|SLC12A4_ENST00000338335.3_Silent_p.F138F|SLC12A4_ENST00000316341.3_Silent_p.F138F|SLC12A4_ENST00000541864.2_Silent_p.F107F|SLC12A4_ENST00000572037.1_Silent_p.F90F|SLC12A4_ENST00000572010.1_5'UTR	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	138					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGCCGCAGGAAGAGGATAA	0.597000													21	1					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9656049	9656049	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9656049A>G	ENST00000340305.5	+	2	224	c.215A>G	c.(214-216)cAg>cGg	p.Q72R	TMEM201_ENST00000377376.4_Missense_Mutation_p.Q72R|TMEM201_ENST00000340381.6_Missense_Mutation_p.Q72R	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	72						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CACTGCGAGCAGTACAACGGC	0.612000													5	49					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262816	232262816	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:232262816A>C	ENST00000287590.5	+	2	647	c.386A>C	c.(385-387)aAg>aCg	p.K129T	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	129					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CACCCGGAGAAGTGCAGGGGC	0.657000													18	22					0	0	1	0	0
TUBA1C	84790	broad.mit.edu	37	12	49663313	49663313	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49663313C>T	ENST00000301072.6	+	2	344	c.69C>T	c.(67-69)ctC>ctT	p.L23L	TUBA1C_ENST00000549183.1_Silent_p.L23L|RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.L93L	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	23					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GCTGGGAGCTCTACTGCCTGG	0.542000													82	44					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609818	117609818	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117609818G>A	ENST00000368508.3	-	43	7079	c.6881C>T	c.(6880-6882)tCc>tTc	p.S2294F	ROS1_ENST00000368507.3_Missense_Mutation_p.S2288F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2294					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGATTCCTGGGAGCCTAGAGG	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								34	5					0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21663895	21663895	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:21663895T>C	ENST00000268389.4	-	1	86	c.25A>G	c.(25-27)Atc>Gtc	p.I9V	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	9					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGGCGAGCGATGTTGCTTCTG	0.428000													45	83					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496572	128496572	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128496572G>A	ENST00000325888.8	+	44	7513	c.7251_splice	c.e44-1	p.E2418_splice	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.E2385_splice	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2418	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCTTTGCAGGAGACGGGGCT	0.652000													47	54					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519802	23519802	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23519802C>T	ENST00000374619.1	-	1	1420	c.911G>A	c.(910-912)gGc>gAc	p.G304D	HTR1D_ENST00000314113.3_Missense_Mutation_p.G304D	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	304					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGAATGATGCCCAGGATTTT	0.552000													53	100					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10210311	10210311	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10210311T>A	ENST00000418404.3	-	35	5403	c.5240A>T	c.(5239-5241)aAc>aTc	p.N1747I	MYH13_ENST00000252172.4_Missense_Mutation_p.N1747I|MYH13_ENST00000570743.1_Missense_Mutation_p.N1747I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1747					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGATCGAGTTCTCCACCTC	0.488000													38	48					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105635202	105635202	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:105635202C>T	ENST00000542731.1	+	5	627	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CDHR3_ENST00000317716.9_Silent_p.F173F|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Silent_p.F85F			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	173	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTTAGTATTTCCTGATTTCTC	0.433000													3	10					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16486675	16486675	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:16486675G>A	ENST00000354981.2	-	8	1017	c.860C>T	c.(859-861)tCt>tTt	p.S287F	KIF16B_ENST00000408042.1_Missense_Mutation_p.S287F|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.S287F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	287	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACCTAAGGCAGAAATGACGTT	0.507000													29	35					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47036851	47036851	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47036851A>T	ENST00000450053.3	+	13	1805	c.1626A>T	c.(1624-1626)ggA>ggT	p.G542G	NBEAL2_ENST00000292309.5_Silent_p.G542G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	542							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGGCCAGGATTGGACTCGG	0.642000													8	17					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149225945	149225945	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149225945C>T	ENST00000407073.1	+	9	1430	c.433C>T	c.(433-435)Cca>Tca	p.P145S	MBD5_ENST00000404807.1_Missense_Mutation_p.P145S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	145						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGCAGCAACTCCAAGATCAGT	0.388000													8	7					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884434	215884434	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:215884434C>T	ENST00000272895.7	-	12	1593	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ABCA12_ENST00000389661.4_Missense_Mutation_p.M140I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	458					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCCAAAGCTCATATCAGAGA	0.463000													10	24					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225378270	225378270	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:225378270A>T	ENST00000264414.4	-	5	963	c.625T>A	c.(625-627)Ttt>Att	p.F209I	CUL3_ENST00000409096.1_Missense_Mutation_p.F185I|CUL3_ENST00000409777.1_Missense_Mutation_p.F185I|CUL3_ENST00000344951.4_Missense_Mutation_p.F143I	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	209					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)		ATTTCCAAAAAAGGAGCCTCA	0.303000													9	26					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306931	162306931	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:162306931C>T	ENST00000306100.5	-	16	2948	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.G837R|FSTL5_ENST00000536695.1_Missense_Mutation_p.G837R|FSTL5_ENST00000427802.2_Missense_Mutation_p.G828R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	838						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTGTATTTCCTTTTTCAACT	0.358000													47	28					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101591524	101591524	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:101591524G>A	ENST00000370449.4	+	22	3153	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1014	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAATAGCACCGACTATCCAGC	0.463000													41	4					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212226	28212226	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:28212226G>A	ENST00000284984.2	-	6	2274	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	607	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		AAGGTTACAGGATCTGTAGCG	0.483000													53	69					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651957	11651957	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11651957C>T	ENST00000252456.2	+	2	341	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.R24C	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	44	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GGTGACAGGCCGTCGCATCGG	0.607000													7	22					0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27059205	27059205	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27059205T>C	ENST00000355394.4	-	5	773	c.550A>G	c.(550-552)Agt>Ggt	p.S184G	ABI1_ENST00000376160.1_Missense_Mutation_p.S178G|ABI1_ENST00000376142.2_Missense_Mutation_p.S183G|ABI1_ENST00000376137.4_Missense_Mutation_p.S184G|ABI1_ENST00000536334.1_Missense_Mutation_p.S184G|ABI1_ENST00000376140.3_Missense_Mutation_p.S183G|ABI1_ENST00000346832.5_Missense_Mutation_p.S200G|ABI1_ENST00000376138.3_Missense_Mutation_p.S183G|ABI1_ENST00000490841.2_Missense_Mutation_p.S119G|ABI1_ENST00000376139.2_Missense_Mutation_p.S178G|ABI1_ENST00000359188.4_Missense_Mutation_p.S183G|ABI1_ENST00000376134.3_Missense_Mutation_p.S184G|ABI1_ENST00000376166.1_Missense_Mutation_p.S178G|ABI1_ENST00000376170.4_Missense_Mutation_p.S183G			Q8IZP0	ABI1_HUMAN	abl-interactor 1	183					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGGAGGACTTGGCGGTTTC	0.403000													23	64					0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5159584	5159584	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5159584T>C	ENST00000460006.1	+	5	818	c.511T>C	c.(511-513)Ttt>Ctt	p.F171L	CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.F51L	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	171					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GTTCATTTCCTTTACTCTCTA	0.408000													26	77					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103309512	103309512	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103309512A>T	ENST00000376052.3	+	25	3114	c.3098A>T	c.(3097-3099)gAg>gTg	p.E1033V	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.E1020V			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1020					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAAAAGAAGAGTTTACTGAA	0.299000													10	30					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7704976	7704976	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7704976T>G	ENST00000572933.1	+	57	10240	c.8780T>G	c.(8779-8781)cTc>cGc	p.L2927R	DNAH2_ENST00000389173.2_Missense_Mutation_p.L2927R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2927	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGCCCTGCTCGAGGTGGCT	0.592000													9	158					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498157	32498157	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32498157T>C	ENST00000266088.4	+	13	1848	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P	SLC5A1_ENST00000543737.1_Missense_Mutation_p.L406P	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	533					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCATTATCCTCTTCGCCATT	0.483000													25	79					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822535	16822535	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:16822535C>T	ENST00000355661.3	-	17	2405	c.2395G>A	c.(2395-2397)Gcc>Acc	p.A799T	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A799T|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A799T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	799					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AAAAAAAAGGCTCTTCTGTGT	0.443000													67	109					0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72538327	72538327	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72538327C>T	ENST00000321297.5	+	14	1599	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	487					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			AGATCCGGTTCTGGGACAGCA	0.577000													23	29					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806893	2806893	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:2806893C>T	ENST00000520002.1	-	69	10888	c.10333G>A	c.(10333-10335)Gaa>Aaa	p.E3445K	CSMD1_ENST00000537824.1_Missense_Mutation_p.E3444K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E3267K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3268K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3445K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3268K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3445						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCCTCTTTCAAGTCCAGAT	0.308000													13	16					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71418617	71418617	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:71418617G>A	ENST00000356595.4	-	4	1440	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000460330.1_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TTGAGATTCTGGTGTACACAT	0.413000													69	89					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76075523	76075523	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76075523A>G	ENST00000335749.4	+	10	3818	c.3249A>G	c.(3247-3249)caA>caG	p.Q1083Q	TNRC6C_ENST00000544502.1_Silent_p.Q1083Q|TNRC6C_ENST00000588847.1_Silent_p.Q1083Q|TNRC6C_ENST00000588061.1_Silent_p.Q1086Q|TNRC6C_ENST00000541771.1_Silent_p.Q1086Q|TNRC6C_ENST00000301624.4_Silent_p.Q1086Q	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1086					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGCAGCACAAGCCAGGACCA	0.532000													20	62					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	618100	618100	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:618100C>T	ENST00000581619.1	+	2	1022	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	CLUL1_ENST00000540035.1_Silent_p.L86L|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000400606.2_Silent_p.L34L|CLUL1_ENST00000579494.1_Silent_p.L34L|CLUL1_ENST00000338387.7_Silent_p.L34L			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	34					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CAGTGAAAACCTGAAGAGTAC	0.458000													22	12					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64680846	64680846	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64680846C>T	ENST00000421419.2	-	5	732	c.618G>A	c.(616-618)cgG>cgA	p.R206R	ATG2A_ENST00000377264.3_Silent_p.R206R			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	206							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTTGGGTCCCGCACTGCCT	0.677000													4	12					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563839	156563839	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156563839C>T	ENST00000368235.3	+	6	873	c.830C>T	c.(829-831)cCc>cTc	p.P277L	APOA1BP_ENST00000368234.3_Silent_p.T258T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	277						extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACCTGCCACCCTACCCTGAC	0.532000													12	82					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697704	55697704	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55697704G>A	ENST00000376350.3	-	16	2689	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	PTPRH_ENST00000263434.5_Silent_p.F711F	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	889	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGTTGCAATGAACTCCTGGG	0.622000													35	71					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690318	96690318	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96690318A>G	ENST00000434632.1	-	16	1985	c.1526T>C	c.(1525-1527)cTg>cCg	p.L509P	GPAT2_ENST00000453542.1_Missense_Mutation_p.L438P|GPAT2_ENST00000359548.4_Missense_Mutation_p.L509P|GPAT2_ENST00000377137.3_Missense_Mutation_p.L509P			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	509					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGCAGGCTCAGTGAGTGCTG	0.652000													21	76					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861860	131861860	+	Silent	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131861860G>T	ENST00000286355.5	-	10	4492	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	800					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TATTTAAGATGGCACCCAGGA	0.468000										HNSCC(32;0.087)			22	29					3.28513e-13	3.30586e-13	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49074213	49074213	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49074213C>T	ENST00000376265.2	-	26	3184		c.e26+1		CACNA1F_ENST00000323022.5_Splice_Site|CACNA1F_ENST00000376251.1_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGGGCACTCACTTGCATTCTT	0.527000													13	18					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42861647	42861647	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42861647C>T	ENST00000334370.4	+	27	5356	c.4721C>T	c.(4720-4722)cCg>cTg	p.P1574L	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1641L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1641						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGTTACTCCCCGGAAAATGGC	0.667000													30	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062055	9062055	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9062055G>A	ENST00000397910.4	-	3	25594	c.25391C>T	c.(25390-25392)cCt>cTt	p.P8464L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8466	Ser-rich.|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						GAACTGATCAGGCCCTGACAT	0.493000													98	99					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885185	88885185	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:88885185T>C	ENST00000319675.3	-	1	1111	c.1015A>G	c.(1015-1017)Aga>Gga	p.R339G		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	339										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCCAGATTCTCGTGTAGCAG	0.577000													6	86					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170589	53170589	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53170589T>C	ENST00000332411.2	-	1	540	c.487A>G	c.(487-489)Agt>Ggt	p.S163G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	163	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAGGAGACTCTGGTTTACA	0.562000													4	23					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16453244	16453244	+	Missense_Mutation	SNP	G	G	A	rs146106216		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:16453244G>A	ENST00000308683.2	-	5	1310	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	395						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCTCATCAAGGAGCGATGACC	0.473000													126	78					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551944	100551944	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100551944C>T	ENST00000319509.7	+	1	695	c.695C>T	c.(694-696)aCc>aTc	p.T232I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTTTAGTACCATCATCTGG	0.423000													176	623					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38831811	38831811	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38831811G>A	ENST00000302495.4	+	1	129	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	10					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CGGACCGCGGGGCTGGGACGA	0.622000													18	19					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314133	54314133	+	Silent	SNP	C	C	T	rs148038630		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54314133C>T	ENST00000324134.6	-	3	948	c.780G>A	c.(778-780)acG>acA	p.T260T	NLRP12_ENST00000391773.1_Silent_p.T260T|NLRP12_ENST00000391775.3_Silent_p.T260T|NLRP12_ENST00000354278.3_Silent_p.T260T|NLRP12_ENST00000351894.4_Silent_p.T260T|NLRP12_ENST00000535162.1_Silent_p.T260T|NLRP12_ENST00000345770.5_Silent_p.T260T|NLRP12_ENST00000391772.1_Silent_p.T260T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	260	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCTGCATTCCGTGGCACTCT	0.562000													25	47					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409849	56409849	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56409849G>A	ENST00000544374.1	-	1	98	c.70C>T	c.(70-72)Ctt>Ttt	p.L24F	OR5AP2_ENST00000302981.1_Missense_Mutation_p.L23F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGTCGGAAAGTCCTAAGAGG	0.388000													17	53					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67812980	67812980	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:67812980A>G	ENST00000255674.6	-	18	2635	c.2349T>C	c.(2347-2349)ctT>ctC	p.L783L	RTTN_ENST00000437017.1_Silent_p.L783L|RTTN_ENST00000454359.1_Silent_p.L783L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	783							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTCACTGGTAAGATGGAATG	0.403000													7	49					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964188	111964188	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:111964188G>A	ENST00000369732.3	-	7	771	c.717_splice	c.e7+1	p.S239_splice	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	239					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTTCCTTACCGAAGATTTGGG	0.473000													37	40					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938333	169938333	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:169938333T>C	ENST00000327239.4	+	5	1746	c.242T>C	c.(241-243)cTt>cCt	p.L81P	DHRS9_ENST00000428522.1_Missense_Mutation_p.L81P|DHRS9_ENST00000602501.1_Missense_Mutation_p.L81P|DHRS9_ENST00000436483.2_Missense_Mutation_p.L81P|DHRS9_ENST00000432060.2_Missense_Mutation_p.L141P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.L81P|DHRS9_ENST00000357546.2_Missense_Mutation_p.L81P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	81					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CGTACTGTGCTTCTGGATGTG	0.478000													5	43					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176782	43176782	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43176782G>A	ENST00000352483.2	-	2	441	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RIPK4_ENST00000332512.3_Missense_Mutation_p.A126V|RIPK4_ENST00000542057.1_Missense_Mutation_p.A63V|RIPK4_ENST00000544709.1_Missense_Mutation_p.A63V			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	126						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATGCCCACCGCCGTCTCGTG	0.617000													23	28					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176562927	176562927	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176562927A>C	ENST00000439151.2	+	2	868	c.823A>C	c.(823-825)Aat>Cat	p.N275H	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.N275H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	275					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAACTCAATAAATTTATCTTT	0.398000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	15					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739096	164739096	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164739096C>T	ENST00000264382.3	-	27	3237	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1059	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTCTGTCTTCATAAGTACTT	0.358000										HNSCC(35;0.089)			167	79					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207103720	207103720	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207103720G>A	ENST00000356495.4	-	11	2421	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	746						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTGGAGCAGGAAGTCTTTGT	0.637000													36	41					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390607	197390607	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197390607A>T	ENST00000367400.3	+	6	1784	c.1649A>T	c.(1648-1650)aAt>aTt	p.N550I	CRB1_ENST00000535699.1_Missense_Mutation_p.N481I|CRB1_ENST00000544212.1_Missense_Mutation_p.N31I|CRB1_ENST00000367399.2_Missense_Mutation_p.N438I|CRB1_ENST00000538660.1_Missense_Mutation_p.N550I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.N249I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	550	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGTCAATAATCAGTCAAAG	0.453000													45	63					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862854	31862854	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31862854C>T	ENST00000396184.3	-	15	1619	c.1415G>A	c.(1414-1416)aGc>aAc	p.S472N	PDE1C_ENST00000396191.1_Missense_Mutation_p.S472N|PDE1C_ENST00000321453.7_Missense_Mutation_p.S472N|PDE1C_ENST00000396182.2_Missense_Mutation_p.S472N|PDE1C_ENST00000396193.1_Missense_Mutation_p.S532N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	472	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGAGCTGATGCTATTCAAACT	0.453000													12	39					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13059566	13059566	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13059566T>C	ENST00000586534.1	+	5	600	c.539T>C	c.(538-540)gTc>gCc	p.V180A	RAD23A_ENST00000541222.1_Missense_Mutation_p.V15A|RAD23A_ENST00000316856.3_Missense_Mutation_p.V180A|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.V180A			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	180	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CGAGAGCGGGTCGTGGCCGCC	0.632000								Nucleotide excision repair (NER)					33	182					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129629966	129629966	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:129629966A>C	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TGCACAAAGAAATGGGTCAGC	0.438000													30	58					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7831109	7831109	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7831109A>C	ENST00000303790.2	-	2	277	c.278T>G	c.(277-279)cTt>cGt	p.L93R	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	93						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				ACCTAGGCCAAGACAGGATAC	0.527000													62	171					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131105503	131105503	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131105503T>C	ENST00000300456.3	+	2	209	c.92T>C	c.(91-93)tTc>tCc	p.F31S	SLC27A4_ENST00000372870.1_Silent_p.V58V	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	31					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCCTGTTGTTCCTCTACTTG	0.592000													10	45					0	0	1	0	0
COPG2	26958	broad.mit.edu	37	7	130295935	130295935	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:130295935A>G	ENST00000445977.2	-	9	715	c.626T>C	c.(625-627)cTt>cCt	p.L209P				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	209					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GGAAACAGCAAGTCGATCATT	0.373000													5	43					0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760553	119760553	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:119760553A>C	ENST00000304661.5	-	2	707	c.469T>G	c.(469-471)Ttt>Gtt	p.F157V	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.F157V	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	157						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TTTAACAAAAAATACTTTAGG	0.378000													4	41					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477538	10477538	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10477538A>C	ENST00000538557.1	+	10	1286	c.1042A>C	c.(1042-1044)Atg>Ctg	p.M348L	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Missense_Mutation_p.M339L|PGD_ENST00000270776.8_Missense_Mutation_p.M361L			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	361					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CATCGCCCTGATGTGGAGAGG	0.552000													9	117					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633762	7633762	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7633762G>A	ENST00000359156.4	-	15	3540	c.3338C>T	c.(3337-3339)tCc>tTc	p.S1113F	CD163_ENST00000541972.1_Missense_Mutation_p.S1101F|CD163_ENST00000396620.3_Missense_Mutation_p.S1146F|CD163_ENST00000432237.2_Missense_Mutation_p.S1113F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1113					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGACCTGAGGAATTCATTAG	0.443000													41	56					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107818537	107818537	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:107818537A>T	ENST00000379028.3	-	26	3342	c.2872T>A	c.(2872-2874)Ttg>Atg	p.L958M	NRCAM_ENST00000379024.4_Missense_Mutation_p.L939M|NRCAM_ENST00000351718.4_Missense_Mutation_p.L942M|NRCAM_ENST00000425651.2_Missense_Mutation_p.L958M|NRCAM_ENST00000379022.4_Missense_Mutation_p.L958M|NRCAM_ENST00000413765.2_Missense_Mutation_p.L939M			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	958	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAATCTTCAAAGACGAGGGA	0.443000													11	43					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905568	23905568	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23905568T>C	ENST00000382298.3	-	10	13035	c.12447A>G	c.(12445-12447)tcA>tcG	p.S4149S	SACS_ENST00000402364.1_Silent_p.S3399S|SACS_ENST00000382292.3_Silent_p.S4149S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4149					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTCCAGTTTTGATGGCTCCG	0.393000													9	122					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18931299	18931299	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:18931299C>T	ENST00000284878.7	+	4	1169	c.421C>T	c.(421-423)Cct>Tct	p.P141S	CXADR_ENST00000306618.10_Missense_Mutation_p.P141S|CXADR_ENST00000400166.1_Missense_Mutation_p.P141S|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.P141S|CXADR_ENST00000356275.6_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	141	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TTCAGTTAAGCCTTCAGGTGC	0.333000													17	27					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4643995	4643995	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4643995C>T	ENST00000433935.1	+	2	209	c.152C>T	c.(151-153)cCc>cTc	p.P51L	ZMYND15_ENST00000573751.2_Missense_Mutation_p.P51L|ZMYND15_ENST00000269289.6_Missense_Mutation_p.P51L|ZMYND15_ENST00000592813.1_Missense_Mutation_p.P51L	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	51							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGAAGGCTACCCCAGGACCCT	0.642000													13	29					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510963	110510963	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110510963G>A	ENST00000378402.5	+	67	10895	c.10791G>A	c.(10789-10791)atG>atA	p.M3597I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3597					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGAATCATGAGTTACAATG	0.408000										HNSCC(38;0.096)			6	31					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933883	73933883	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73933883C>T	ENST00000476977.1	+	6	2441	c.750C>T	c.(748-750)tcC>tcT	p.S250S	GTF2IRD1_ENST00000455841.2_Silent_p.S282S|GTF2IRD1_ENST00000265755.3_Silent_p.S250S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.S250S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	250						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						CCGCCACCTCCTCCTCCATGG	0.672000													30	37					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136687015	136687015	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:136687015T>G	ENST00000354570.3	-	10	1541	c.1131A>C	c.(1129-1131)aaA>aaC	p.K377N	MAP7_ENST00000432797.2_Missense_Mutation_p.K231N|MAP7_ENST00000454590.1_Missense_Mutation_p.K399N|MAP7_ENST00000438100.2_Missense_Mutation_p.K362N|MAP7_ENST00000544465.1_Missense_Mutation_p.K362N	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	377	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAGGCTCCACTTTGACTTCCC	0.562000													22	40					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342748	29342748	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29342748C>T	ENST00000396806.3	-	1	320	c.317G>A	c.(316-318)gGa>gAa	p.G106E	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CTCTGTGCTTCCCAAAAAGTG	0.498000													20	22					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81660752	81660752	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81660752T>A	ENST00000550584.2	-	29	3829	c.3534A>T	c.(3532-3534)ggA>ggT	p.G1178G	PPFIA2_ENST00000407050.4_Silent_p.G1077G|PPFIA2_ENST00000333447.7_Silent_p.G1166G|PPFIA2_ENST00000552948.1_Silent_p.G1157G|PPFIA2_ENST00000443686.3_Silent_p.G1073G|PPFIA2_ENST00000549325.1_Silent_p.G1163G|PPFIA2_ENST00000541017.1_Silent_p.G364G|PPFIA2_ENST00000549396.1_Silent_p.G1178G|PPFIA2_ENST00000548586.1_Silent_p.G1172G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Silent_p.G714G|PPFIA2_ENST00000550359.2_Silent_p.G1025G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1077										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCCTTTCAGTTCCCAGGGCCA	0.358000													10	2					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158250197	158250197	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:158250197A>C	ENST00000313708.6	-	8	1047	c.765T>G	c.(763-765)tcT>tcG	p.S255S	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Intron	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	255					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTCCAGATAAGAGGGCGTAC	0.458000			T	HMGA2	lipoma								27	8					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954577	12954577	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12954577C>T	ENST00000235347.4	-	3	785	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	236										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAAGAGTTCACGAAGATTG	0.493000													85	62					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32860396	32860396	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:32860396T>C	ENST00000383763.4	+	1	887	c.824T>C	c.(823-825)cTc>cCc	p.L275P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	275					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCGAGCGCCTCGGCTTCTGC	0.692000													4	94					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733668	50733668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:50733668C>T	ENST00000300589.2	+	2	448	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	115	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGCCGACAGCCAGTCCCCCAA	0.652000													18	11					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42794141	42794141	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:42794141A>C	ENST00000310232.6	-	4	522	c.439T>G	c.(439-441)Ttg>Gtg	p.L147V	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	147										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCTGCCATCAACAGCCGGTTC	0.522000													21	56					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697073	111697073	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111697073G>A	ENST00000435970.1	-	15	3067	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	REV3L_ENST00000358835.3_Missense_Mutation_p.R829W|REV3L_ENST00000368802.3_Missense_Mutation_p.R829W|REV3L_ENST00000368805.1_Missense_Mutation_p.R829W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	829					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTTTAACCGGGATGGTTTA	0.348000								DNA polymerases (catalytic subunits)					16	2					0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21132578	21132578	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:21132578C>T	ENST00000601023.1	+	2	1727	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	ZNF85_ENST00000345030.6_Missense_Mutation_p.H387Y|ZNF85_ENST00000328178.8_Missense_Mutation_p.H420Y			Q03923	ZNF85_HUMAN	zinc finger protein 85	420						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGATAATTCATACTGGAGA	0.313000													5	12					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417820	46417820	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:46417820C>T	ENST00000341294.2	-	1	216	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	44					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GATCCTGCCCCAGCGGAGGCC	0.657000													26	88					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185698039	185698039	+	Splice_Site	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:185698039T>A	ENST00000515030.1	-	6	901	c.577_splice	c.e6+1	p.K192_splice	ACSL1_ENST00000281455.2_Splice_Site_p.K192_splice|ACSL1_ENST00000437665.3_Splice_Site_p.K21_splice|ACSL1_ENST00000513317.1_Splice_Site_p.K192_splice|ACSL1_ENST00000504900.1_Splice_Site_p.K192_splice|ACSL1_ENST00000504342.1_Splice_Site_p.K192_splice|ACSL1_ENST00000454703.2_Splice_Site_p.K21_splice|ACSL1_ENST00000507295.1_Splice_Site_p.K158_splice			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	192					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAGACGTACCTTTGTTGACTA	0.373000													10	22					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21204199	21204199	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21204199C>T	ENST00000342679.4	+	5	542	c.293C>T	c.(292-294)aCc>aTc	p.T98I	MAP2K3_ENST00000361818.5_Missense_Mutation_p.T69I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.T69I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	98	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ATCCGGGCCACCGTGAACTCA	0.607000													24	48					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1842994	1842994	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1842994C>T	ENST00000399161.2	-	21	3754	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.E1001K|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1003					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATGCCTTCCGTCTTGACC	0.672000													21	44					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768553	138768553	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138768553T>G	ENST00000242351.5	-	3	986	c.670A>C	c.(670-672)Atg>Ctg	p.M224L	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.M224L|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.M224L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	224	Binding to EXOSC5 (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCTTCTGCATGTGCTTGCTG	0.478000													22	58					0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7345984	7345984	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7345984T>C	ENST00000575331.1	+	3	2252	c.108T>C	c.(106-108)gcT>gcC	p.A36A	RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575398.1_Silent_p.A36A|FGF11_ENST00000293829.4_Silent_p.A160A|FGF11_ENST00000575082.1_Silent_p.A36A|FGF11_ENST00000572907.1_Silent_p.A36A|FGF11_ENST00000575235.1_Silent_p.A36A			Q92914	FGF11_HUMAN	fibroblast growth factor 11	160					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACGCCTCTGCTCTCTACCGCC	0.557000													19	253					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761731	130761731	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130761731C>T	ENST00000276708.4	-	13	2135	c.1254G>A	c.(1252-1254)atG>atA	p.M418I		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	418						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCCTCTTCTCCATGGAACAGG	0.522000													31	31					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112174777	112174777	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:112174777C>T	ENST00000455480.2	+	13	1953	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	ACAD10_ENST00000549590.1_Silent_p.I561I|ACAD10_ENST00000392636.2_Silent_p.I163I|ACAD10_ENST00000313698.4_Silent_p.I561I|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	561							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGCTGCAATCCTACAGGGAG	0.532000													57	5					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204971736	204971736	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:204971736A>C	ENST00000367172.4	+	29	3798	c.3470A>C	c.(3469-3471)aAa>aCa	p.K1157T	NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.K1034T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.K1050T|NFASC_ENST00000339876.6_Missense_Mutation_p.K1050T|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.K1142T|NFASC_ENST00000367170.4_Missense_Mutation_p.K1078T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000513543.1_Intron			O94856	NFASC_HUMAN	neurofascin	1157	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACCATACGAAAAAAACTGTC	0.542000													3	18					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331417	40331417	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40331417G>A	ENST00000221801.3	-	2	134	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	7					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CACCCCCACGGGGACTGAATC	0.597000													6	2					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66856749	66856749	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:66856749G>A	ENST00000359742.4	-	9	1237	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	GRIP1_ENST00000398016.3_Missense_Mutation_p.L333F|GRIP1_ENST00000286445.7_Missense_Mutation_p.L333F			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	333	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGATGGGGAAGGATCTCAAGC	0.562000													15	0					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999688	160999688	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:160999688A>C	ENST00000447678.1	-	28	4458	c.4338T>G	c.(4336-4338)ccT>ccG	p.P1446P	LPA_ENST00000316300.5_Silent_p.P1446P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3954	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTAACACCAAGGGCGAATCT	0.517000													9	39					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2613086	2613086	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2613086A>C	ENST00000402050.2	+	6	613	c.429A>C	c.(427-429)aaA>aaC	p.K143N	IQCE_ENST00000404984.1_Missense_Mutation_p.K92N|IQCE_ENST00000325979.7_Missense_Mutation_p.K78N|IQCE_ENST00000438376.2_Missense_Mutation_p.K127N	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	143										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACAGAGAAAAAGAAGATATGT	0.343000													9	30					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651464	135651464	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135651464C>T	ENST00000513104.1	-	3	1066	c.784G>A	c.(784-786)Gat>Aat	p.D262N	TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	262					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCTGTAATCGTTCTAACAG	0.483000													6	5					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24480778	24480778	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24480778C>T	ENST00000355123.4	-	23	3310	c.2867G>A	c.(2866-2868)gGg>gAg	p.G956E	ITSN2_ENST00000361999.3_Missense_Mutation_p.G929E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G956E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	956	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTTCACTCCCAGGAATGAT	0.418000													35	23					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535509	27535509	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27535509C>T	ENST00000574842.1	+	0	255																											TGGTCCGTATCCCATTCTGCC	0.483000													40	42					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51125255	51125255	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:51125255T>C	ENST00000301180.5	+	31	3779	c.3745T>C	c.(3745-3747)Ttc>Ctc	p.F1249L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1249						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAGGGACACTTTCTGCTCCTA	0.483000													7	49					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32548082	32548082	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32548082C>T	ENST00000382097.3	-	4	445		c.e4-1			NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CAGGTATTTCCTGCAATAAGA	0.368000													23	46					0	0	1	0	0
CHMP5	51510	broad.mit.edu	37	9	33276471	33276471	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33276471A>G	ENST00000419016.2	+	6	445	c.405A>G	c.(403-405)ctA>ctG	p.L135L	CHMP5_ENST00000223500.8_Silent_p.L135L	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	135	Interaction with VTA1.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			AAGACCAGCTAGAGGATATGA	0.383000													8	32					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69964163	69964163	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69964163T>G	ENST00000299293.2	+	7	629	c.119T>G	c.(118-120)cTt>cGt	p.L40R	FRS2_ENST00000397997.2_Missense_Mutation_p.L40R|FRS2_ENST00000549921.1_Missense_Mutation_p.L40R|FRS2_ENST00000550389.1_Missense_Mutation_p.L40R	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	40	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATAATGGAACTTACAGACACA	0.418000													5	133					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141705447	141705447	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141705447G>A	ENST00000475668.2	+	2	171	c.117G>A	c.(115-117)ctG>ctA	p.L39L	MGAM_ENST00000549489.2_Silent_p.L39L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	39	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAGTCACTGAAATCAACAG	0.358000													8	10					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69096510	69096510	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69096510T>A	ENST00000543976.1	-	2	1592	c.1346A>T	c.(1345-1347)aAg>aTg	p.K449M	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Splice_Site_p.K449_splice|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	449					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TAGAGTTACCTTGCAAACATC	0.363000													12	291					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430525	149430525	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149430525G>A	ENST00000255992.10	+	18	2878	c.2479G>A	c.(2479-2481)Gtg>Atg	p.V827M	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.V767M|KRBA1_ENST00000485033.2_Missense_Mutation_p.V767M	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	828										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTCAGGAAGTGGCCACCAT	0.687000													5	4					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580309	77580309	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77580309C>T	ENST00000361786.2	+	4	1165	c.848C>T	c.(847-849)tCa>tTa	p.S283L	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	283										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TCTCCCCTTTCACCACTGTCC	0.562000													54	42					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435624	104435624	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:104435624G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TCCTTAATTTGAAACAAGTGC	0.463000													14	14					0	0	1	0	0
SRP19	6728	broad.mit.edu	37	5	112200422	112200422	+	Missense_Mutation	SNP	C	C	T	rs147944769	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112200422C>T	ENST00000515463.1	+	3	285	c.218C>T	c.(217-219)tCc>tTc	p.S73F	SRP19_ENST00000505459.1_Silent_p.F98F|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000512790.1_3'UTR|SRP19_ENST00000282999.3_Silent_p.F98F	NM_001204196.1	NP_001191125.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	0					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TTGTACAGTTCCCATCACGTA	0.433000													19	19					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37965985	37965985	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:37965985A>C	ENST00000357972.5	+	11	1841	c.1295A>C	c.(1294-1296)aAt>aCt	p.N432T	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.N432T|SYTL5_ENST00000456733.2_Missense_Mutation_p.N454T			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	432	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AATTGCAGAAATCTGGCCATA	0.428000													12	20					0	0	1	0	0
DHFR	1719	broad.mit.edu	37	5	79929780	79929780	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79929780A>G	ENST00000439211.2	-	5	894	c.401T>C	c.(400-402)cTa>cCa	p.L134P	DHFR_ENST00000511032.1_Intron|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Missense_Mutation_p.L134P|DHFR_ENST00000504396.1_Missense_Mutation_p.L82P	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	134	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTCACAAATAGTTTAAGATG	0.328000													19	17					0	0	1	0	0
MAK16	84549	broad.mit.edu	37	8	33354259	33354259	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:33354259A>C	ENST00000360128.6	+	8	1096	c.639_splice	c.e8+1	p.E213_splice	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	213	Asp-rich.					nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						atgatgaGGAAGTAAGTCTTG	0.393000													4	8					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218648	47218648	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47218648C>T	ENST00000300404.2	+	2	293	c.234C>T	c.(232-234)atC>atT	p.I78I	B4GALNT2_ENST00000504681.1_5'UTR|B4GALNT2_ENST00000393354.2_Silent_p.I18I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	78					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGTCATAATCCTGGTACTTG	0.433000													53	129					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179558708	179558708	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179558708A>C	ENST00000589042.1	-	118	31678	c.31454T>G	c.(31453-31455)gTt>gGt	p.V10485G	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V10168G|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9241G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10168	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGAAATAACCATCTTCTT	0.383000													5	12					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795587	96795587	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96795587T>G	ENST00000342380.2	-	8	849	c.850A>C	c.(850-852)Agt>Cgt	p.S284R		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	284					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTGGGGCCACTTGGGCTGCAG	0.617000													22	53					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796863	42796863	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42796863C>T	ENST00000572681.2	+	15	6113	c.6045C>T	c.(6043-6045)ccC>ccT	p.P2015P	CIC_ENST00000160740.3_Silent_p.P1106P|CIC_ENST00000575354.2_Silent_p.P1107P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1107					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)				CCTCAGCACCCCTGGCCCAGC	0.677000			"""Mis, F, S"""		oligodendroglioma								37	42					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18167643	18167643	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18167643C>T	ENST00000323019.4	+	4	1141	c.930C>T	c.(928-930)gtC>gtT	p.V310V	SMCR7_ENST00000395706.2_Silent_p.V321V|SMCR7_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		310						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					TCCCTGGGGTCGATGCTGACG	0.677000													85	77					0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145699064	145699064	+	Silent	SNP	A	A	G	rs140033267		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145699064A>G	ENST00000369290.1	-	3	257	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L	CD160_ENST00000235933.6_Silent_p.L143L|CD160_ENST00000401557.3_Silent_p.L143L|CD160_ENST00000369288.2_Silent_p.L143L			O95971	BY55_HUMAN	CD160 molecule	143	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CTTTGTTTCAATCCCGTCACT	0.448000													11	47					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242682	126242682	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126242682C>T	ENST00000394329.3	+	1	5129	c.5116C>T	c.(5116-5118)Ctg>Ttg	p.L1706L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1706	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGTCTTTACCTGGTGGATGT	0.403000													30	46					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168151452	168151452	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:168151452C>T	ENST00000519560.1	-	21	2727	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E770K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E770K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	770					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGACAGCTCTCTGGGCACG	0.512000													16	13					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113267620	113267620	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113267620C>T	ENST00000297405.5	-	62	10143	c.9899G>A	c.(9898-9900)gGa>gAa	p.G3300E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3230E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3131E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3260E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3300	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTCTTTTTCCTTGGGCAGG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	20					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727288	71727288	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71727288C>T	ENST00000393695.3	-	15	1592	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.E421K|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	421					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTGGCTGCCTCTTGCTTCAAG	0.532000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	58					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963390	96963390	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96963390G>A	ENST00000323853.5	-	10	1265	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	SNRNP200_ENST00000349783.5_Silent_p.L396L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	396						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACCCTGGTCGAGATCCATGG	0.483000													21	50					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46492037	46492037	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46492037C>T	ENST00000231751.4	-	7	1125	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	LTF_ENST00000426532.2_Missense_Mutation_p.R233Q|LTF_ENST00000417439.1_Missense_Mutation_p.R277Q	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	277	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ATTCACACTTCGTGCCACAAC	0.567000													13	19					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123113	12123113	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:12123113A>C	ENST00000379388.2	+	4	3417	c.3085A>C	c.(3085-3087)Aga>Cga	p.R1029R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1029					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCCCAGATAAGAAAAAGGAG	0.493000													49	160					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27657095	27657095	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:27657095C>T	ENST00000305188.8	+	10	1773	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	ESCO2_ENST00000397418.2_Missense_Mutation_p.S160F	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	512					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GGTCCAGAATCCCCAAGCTCT	0.443000									SC Phocomelia syndrome				44	45					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140144	158140144	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:158140144C>T	ENST00000313708.6	-	13	1485	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.L393L|EBF1_ENST00000380654.4_Silent_p.L370L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	401					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCTCTCTTCAGAATGATTT	0.542000			T	HMGA2	lipoma								7	10					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212554	131212554	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:131212554A>C	ENST00000298542.4	-	12	1666	c.1491T>G	c.(1489-1491)ttT>ttG	p.F497L	FRMD7_ENST00000464296.1_Missense_Mutation_p.F482L|FRMD7_ENST00000370879.1_Missense_Mutation_p.F377L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	497					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGTCCACATAAAAAAAGACCT	0.502000													66	44					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780167	39780167	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39780167C>T	ENST00000518237.1	+	6	1173	c.534C>T	c.(532-534)atC>atT	p.I178I	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.I178I	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	178					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTTCTGCAATCAAAGTACGTC	0.393000													21	28					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72967945	72967945	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:72967945G>A	ENST00000264839.7	+	17	2888	c.2888G>A	c.(2887-2889)gGa>gAa	p.G963E	RIMS1_ENST00000522291.1_Missense_Mutation_p.G962E|RIMS1_ENST00000348717.5_Missense_Mutation_p.G962E|RIMS1_ENST00000491071.2_Missense_Mutation_p.G963E|RIMS1_ENST00000518273.1_Missense_Mutation_p.G963E|RIMS1_ENST00000517827.1_Missense_Mutation_p.G422E|RIMS1_ENST00000517960.1_Missense_Mutation_p.G962E|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.G436E|RIMS1_ENST00000523963.1_Missense_Mutation_p.G437E|RIMS1_ENST00000520567.1_Missense_Mutation_p.G962E|RIMS1_ENST00000425662.2_Missense_Mutation_p.G356E|RIMS1_ENST00000521978.1_Missense_Mutation_p.G963E			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	963					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATGATCAGGGAAAGCCGCGT	0.433000													17	2					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101514367	101514367	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101514367C>T	ENST00000392979.3	+	25	2896	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V	ANO4_ENST00000299222.9_Silent_p.V400V|ANO4_ENST00000550015.1_Silent_p.V400V|ANO4_ENST00000392977.3_Silent_p.V880V	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	880						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGGCATGTCCTAGCTGCTC	0.413000										HNSCC(74;0.22)			20	2					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121755208	121755208	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:121755208G>A	ENST00000393376.1	-	8	1058	c.963C>T	c.(961-963)acC>acT	p.T321T	AASS_ENST00000417368.2_Silent_p.T321T|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	321	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CATCTTGGCGGGTTAGGAGGC	0.483000													39	34					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480509	73480509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73480509G>A	ENST00000523207.1	+	2	1128	c.540G>A	c.(538-540)tgG>tgA	p.W180*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	180					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAAACTGTGGGACTTGCTGG	0.458000													29	106					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021420	132021420	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132021420C>T	ENST00000356920.5	+	15	2486	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	798	Actin-like.						ATP binding										GCGTGTGGCTCCCGAGGAGCA	0.587000													71	35					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116225098	116225098	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:116225098T>A	ENST00000355485.2	+	5	1197	c.926T>A	c.(925-927)cTg>cAg	p.L309Q	VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000369509.1_Missense_Mutation_p.L309Q|VANGL1_ENST00000310260.3_Missense_Mutation_p.L309Q|VANGL1_ENST00000369510.3_Missense_Mutation_p.L307Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	309					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATGGCCGGGCTGAAAGTCTAC	0.463000													8	61					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515861	51515861	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:51515861G>A	ENST00000328188.1	+	1	580	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATATGCTGGAACTCTTCAT	0.463000													46	47					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497108	1497108	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:1497108G>A	ENST00000421627.2	+	2	383	c.249G>A	c.(247-249)cgG>cgA	p.R83R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	162					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTTCCCGCGGATGCACTACA	0.697000													22	14					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85406290	85406290	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85406290A>C	ENST00000359152.5	-	12	5290	c.5291T>G	c.(5290-5292)aTt>aGt	p.I1764S	SYTL2_ENST00000524452.1_Missense_Mutation_p.I894S|SYTL2_ENST00000527523.1_Missense_Mutation_p.I886S|SYTL2_ENST00000533892.1_Missense_Mutation_p.I320S|SYTL2_ENST00000354566.3_Missense_Mutation_p.I1256S|SYTL2_ENST00000528231.1_Missense_Mutation_p.I918S|SYTL2_ENST00000529581.1_Missense_Mutation_p.I360S|SYTL2_ENST00000525702.1_Missense_Mutation_p.I360S|SYTL2_ENST00000316356.4_Missense_Mutation_p.I919S|SYTL2_ENST00000389960.4_Missense_Mutation_p.I894S|SYTL2_ENST00000525423.1_Missense_Mutation_p.I1240S|SYTL2_ENST00000389958.3_Missense_Mutation_p.I349S	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	918					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTTGCTTCAATCCAAGTATT	0.448000													6	49					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761740	74761740	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74761740A>G	ENST00000264094.3	-	10	1812	c.1741T>C	c.(1741-1743)Tcc>Ccc	p.S581P	LOXL3_ENST00000409986.1_Missense_Mutation_p.S436P|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.S525P|LOXL3_ENST00000393937.2_Missense_Mutation_p.S436P	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	581	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						ATCTGGGAGGAGAATCGGAGC	0.632000													4	38					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713519	222713519	+	Missense_Mutation	SNP	C	C	T	rs150512909	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:222713519C>T	ENST00000343410.6	-	4	1341	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	428					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGGGTCCCCTCGGTCCACAGC	0.582000													34	39					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109923	43109923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43109923C>T	ENST00000230419.4	+	13	2154	c.1933C>T	c.(1933-1935)Cag>Tag	p.Q645*	PTK7_ENST00000345201.2_Nonsense_Mutation_p.Q605*|PTK7_ENST00000349241.2_Nonsense_Mutation_p.Q515*|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Nonsense_Mutation_p.Q653*	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	645	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCACATCTTCCAGAATGGCTC	0.642000													42	62					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110644065	110644065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110644065C>T	ENST00000338882.4	-	2	328	c.329G>A	c.(328-330)tGg>tAg	p.W110*	METTL24_ENST00000490043.1_5'UTR	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	110						extracellular region											ATCTATATGCCACCGGGGACC	0.532000													21	1					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824490	54824490	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54824490C>T	ENST00000243911.2	+	1	703	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	234					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCATGTTCTTCGCCATGATGC	0.587000													51	42					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943099	6943099	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6943099G>A	ENST00000317834.3	+	1	895	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGATAAAATGATATCTGTGT	0.423000													33	46					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93535013	93535013	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:93535013C>T	ENST00000251871.3	+	9	1628	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	447					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGCTGCAACCATTGACAGCT	0.303000													10	2					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2640345	2640345	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:2640345T>G	ENST00000380843.4	-	10	1040	c.1010_splice	c.e10+1	p.N337_splice	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Splice_Site_p.N337_splice	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	337					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CATGACCTACTTAAGATGCCG	0.597000													41	219					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440323	179440323	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179440323C>T	ENST00000589042.1	-	326	70760	c.70536G>A	c.(70534-70536)gaG>gaA	p.E23512E	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.E14639E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E14447E|TTN_ENST00000359218.5_Silent_p.E14572E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.E21871E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.E20944E|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21871	Ig-like 119.						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)			CATATTCATTCTCTGCCATCA	0.433000													106	65					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828719	28828719	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28828719G>A	ENST00000422425.2	+	41	2972		c.e41-1		PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Splice_Site	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCTCTTTCAGGATGGGCTCC	0.542000													130	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469771	179469771	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179469771C>T	ENST00000589042.1	-	280	54357	c.54133G>A	c.(54133-54135)Gtt>Att	p.V18045I	TTN_ENST00000342175.6_Missense_Mutation_p.V9172I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8980I|TTN_ENST00000359218.5_Missense_Mutation_p.V9105I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16404I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15477I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16404	Fibronectin type-III 31.						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)			GAAGCAGTAACTGTGTAAGTG	0.458000													101	64					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112512487	112512487	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:112512487T>G	ENST00000261745.4	-	9	1106	c.858A>C	c.(856-858)gaA>gaC	p.E286D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	286						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						ACTGTTCACCTTCAGCAGGAG	0.363000													21	21					0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34263819	34263819	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34263819A>C	ENST00000585556.1	-	4	651	c.317T>G	c.(316-318)cTt>cGt	p.L106R	LYZL6_ENST00000394523.3_Missense_Mutation_p.L106R|LYZL6_ENST00000293274.4_Missense_Mutation_p.L106R			O75951	LYZL6_HUMAN	lysozyme-like 6	106					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTGCAAGAAGGTTGGGATT	0.582000													8	65					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702140	60702140	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:60702140C>T	ENST00000005286.4	+	9	1896	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	TMEM132A_ENST00000453848.2_Silent_p.L580L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	580						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTCCCACCTCGTGGCGCCAC	0.716000													6	25					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102059	29102059	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:29102059G>A	ENST00000261590.8	+	6	746	c.537G>A	c.(535-537)atG>atA	p.M179I	DSG2_ENST00000585206.1_Missense_Mutation_p.M179I	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	179	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTCTTGTGATGAAAATCAATG	0.343000													10	16					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761734	130761734	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:130761734G>A	ENST00000276708.4	-	13	2132	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	417						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCTTCTCCATGGAACAGGCCA	0.522000													29	33					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976625	38976625	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38976625T>C	ENST00000355481.4	+	34	5461	c.5330T>C	c.(5329-5331)tTc>tCc	p.F1777S	RYR1_ENST00000360985.3_Missense_Mutation_p.F1777S|RYR1_ENST00000359596.3_Missense_Mutation_p.F1777S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1777	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGCATCATTTCTCGCCCCCC	0.677000													18	47					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996262	31996262	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31996262G>A	ENST00000435363.2	+	25	3267	c.3183G>A	c.(3181-3183)aaG>aaA	p.K1061K	C4B_ENST00000425700.2_Silent_p.K1061K	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1061					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGTTTCGGAAGGCGGATGGTT	0.622000													38	35					0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49021605	49021605	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:49021605A>G	ENST00000376338.3	+	3	487	c.408A>G	c.(406-408)cgA>cgG	p.R136R	MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000412696.2_Silent_p.R195R|MAGIX_ENST00000376339.1_Silent_p.R136R|MAGIX_ENST00000425661.2_Silent_p.R119R			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	195	PDZ.																AGCGGATCCGAGCTGGAGGCC	0.652000													3	4					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888440	183888440	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183888440C>T	ENST00000313143.3	+	15	2296	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	DVL3_ENST00000431765.1_Missense_Mutation_p.P666L|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	683				PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGAGCCCCTCCGGGCCGCGAC	0.697000													5	49					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74449797	74449797	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74449797T>G	ENST00000334696.6	-	6	684	c.365A>C	c.(364-366)aAg>aCg	p.K122T	ENTPD5_ENST00000557325.1_Missense_Mutation_p.K122T	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	122					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CACTGGGGTCTTTTTCCAGTG	0.488000													7	211					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390946	49390946	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49390946T>C	ENST00000421952.2	-	2	1734	c.1713A>G	c.(1711-1713)caA>caG	p.Q571Q		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	571	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGCCTAAGGCTTGGTGCTCTG	0.721000													18	138					0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141657	14141657	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14141657G>A	ENST00000431365.2	+	2	383	c.326G>A	c.(325-327)gGa>gAa	p.G109E	RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	109						extracellular region	hormone activity			endometrium(1)|lung(4)	5						AGCTGGCAAGGAACCCCTGGG	0.622000													57	50					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140991055	140991055	+	Silent	SNP	G	G	A	rs75673526	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140991055G>A	ENST00000277549.5	+	37	5365	c.2796G>A	c.(2794-2796)ccG>ccA	p.P932P	CACNA1B_ENST00000277551.2_Silent_p.P1738P|CACNA1B_ENST00000371365.2_Silent_p.P102P|CACNA1B_ENST00000371355.4_Silent_p.P1739P|CACNA1B_ENST00000371357.1_Silent_p.P1737P|CACNA1B_ENST00000371363.1_Silent_p.P1736P|CACNA1B_ENST00000371372.1_Silent_p.P1738P			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1738					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AATACGACCCGGCTGCGTGGT	0.557000													13	38					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060142	57060142	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57060142G>A	ENST00000436936.1	+	6	1512	c.1287G>A	c.(1285-1287)gtG>gtA	p.V429V	NLRC5_ENST00000539144.1_Silent_p.V429V|NLRC5_ENST00000308149.7_Silent_p.V429V|NLRC5_ENST00000262510.6_Silent_p.V429V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	429	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCAGTCTGTGGCCCTCCTGC	0.647000													56	3					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63272622	63272622	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:63272622G>T	ENST00000263991.5	+	25	4165	c.3683G>T	c.(3682-3684)tGt>tTt	p.C1228F	AC009501.4_ENST00000412297.1_RNA|EHBP1_ENST00000405289.1_Missense_Mutation_p.C1193F|EHBP1_ENST00000354487.3_Missense_Mutation_p.C1193F|EHBP1_ENST00000496857.1_3'UTR|AC009501.4_ENST00000437346.1_RNA|AC009501.4_ENST00000413549.1_RNA|AC009501.4_ENST00000429952.1_RNA|EHBP1_ENST00000431489.1_Missense_Mutation_p.C1157F|EHBP1_ENST00000405015.3_Missense_Mutation_p.C1157F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1228						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAGGAGAAATGTGTTCTTCAG	0.423000													10	13					3.07112e-06	3.07884e-06	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058964	152058964	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152058964C>T	ENST00000368806.1	-	3	1258	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	398							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCATGGGCCTCAGGACCTC	0.473000													69	52					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82389990	82389990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82389990G>A	ENST00000333891.8	-	24	15590	c.15253C>T	c.(15253-15255)Cga>Tga	p.R5085*		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5008					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R5085*(4)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAATCGAAAAGTTTCA	0.323000													23	37					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778759	110778759	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:110778759T>G	ENST00000395494.2	+	13	2539	c.1976T>G	c.(1975-1977)aTc>aGc	p.I659S	ATP2A2_ENST00000308664.6_Missense_Mutation_p.I686S|ATP2A2_ENST00000539276.2_Missense_Mutation_p.I686S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	686					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAGTCTAAAATCGTAGAATTT	0.493000													4	27					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69529122	69529122	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:69529122A>G	ENST00000341516.5	-	8	1200	c.1053T>C	c.(1051-1053)tcT>tcC	p.S351S	DCAF5_ENST00000556847.1_Silent_p.S269S|DCAF5_ENST00000557386.1_Silent_p.S350S|DCAF5_ENST00000554215.1_Silent_p.S269S|DCAF5_ENST00000553293.1_Intron	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	351						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTTCTACACCAGAAGAGCAGA	0.408000													12	45					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929424	4929424	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4929424C>T	ENST00000592666.1	+	0	920							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGGCGGCCGCCGAGACTGAC	0.652000													30	22					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15976263	15976263	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:15976263T>G	ENST00000480945.1	+	7	1109	c.938T>G	c.(937-939)cTt>cGt	p.L313R		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	313					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTCTCTATACTTGAGGAACAG	0.388000													9	64					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88923280	88923280	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:88923280C>T	ENST00000268695.5	-	1	94	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TRAPPC2L_ENST00000564365.1_Intron|GALNS_ENST00000569433.1_Silent_p.A2A|GALNS_ENST00000542788.1_Silent_p.A2A|GALNS_ENST00000568311.1_Silent_p.A2A	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	2						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CGACAACCGCCGCCATGGCAA	0.776000													4	0					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205812795	205812795	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205812795C>T	ENST00000367136.4	-	6	871	c.827_splice	c.e6+1	p.R276_splice	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	276						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTTGCTTACCGGCTGACAGC	0.517000													17	65					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768248	62768248	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62768248A>C	ENST00000336232.2	-	3	516	c.381T>G	c.(379-381)tcT>tcG	p.S127S	SLC22A8_ENST00000535878.1_Silent_p.S4S|SLC22A8_ENST00000311438.8_Silent_p.S127S|SLC22A8_ENST00000430500.2_Silent_p.S127S|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000545207.1_Silent_p.S36S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	127					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCATGAAGATAGACTGGGCCA	0.542000													23	21					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312327	113312327	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:113312327C>T	ENST00000401783.2	-	2	925	c.589G>A	c.(589-591)Gga>Aga	p.G197R	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G174R|SVEP1_ENST00000302728.8_Missense_Mutation_p.G197R|SVEP1_ENST00000374461.1_Missense_Mutation_p.G174R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	197	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTGGAATATCCATCAGTGATG	0.413000													81	56					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727742	13727742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13727742C>T	ENST00000265104.4	-	70	12011	c.11907G>A	c.(11905-11907)tgG>tgA	p.W3969*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3969					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAAATTTTCCACATTTTCT	0.383000									Kartagener syndrome				19	43					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412116	77412116	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77412116C>T	ENST00000308488.6	-	6	2460	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	RSF1_ENST00000480887.1_Missense_Mutation_p.E468K|RSF1_ENST00000360355.2_Missense_Mutation_p.E689K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	720					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTGTATTTTCTGAGGCAGTG	0.423000													47	37					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122221238	122221238	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:122221238C>T	ENST00000334010.7	-	7	1751	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	CADPS2_ENST00000313070.7_Missense_Mutation_p.G444R|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000449022.2_Missense_Mutation_p.G444R|CADPS2_ENST00000412584.2_Missense_Mutation_p.G444R	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	444	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTCACCCTTCCCAGTTCTTTA	0.458000													19	71					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817659	7817659	+	Silent	SNP	C	C	T	rs138168724	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7817659C>T	ENST00000329434.2	-	1	861	c.831G>A	c.(829-831)gtG>gtA	p.V277V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACATGGGAATCACCACTGTGT	0.438000													25	43					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16259623	16259623	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:16259623C>T	ENST00000205557.7	-	23	3192	c.3163G>A	c.(3163-3165)Gtt>Att	p.V1055I		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1055	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCACGTCAACCGTGTCTGTC	0.587000													25	37					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442640	138442640	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:138442640G>A	ENST00000344876.4	-	4	3337	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	PCDH18_ENST00000510305.1_Missense_Mutation_p.S195F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S164F|PCDH18_ENST00000412923.2_Missense_Mutation_p.S983F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S763F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	984	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAAAGGTGGAAAAACTCTT	0.522000													24	50					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910027	39910027	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:39910027G>A	ENST00000350221.3	-	11	1817	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	536										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CATCTAAGAAGGAGGGCCTTT	0.403000													44	2					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464728	104464728	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:104464728C>T	ENST00000372578.3	-	2	465	c.354G>A	c.(352-354)caG>caA	p.Q118Q	TEX13A_ENST00000413579.1_Silent_p.Q118Q|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.Q118Q|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	118						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTTCCGTCTCCTGCTGCTCCC	0.607000													22	2					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834568	61834568	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61834568G>A	ENST00000280772.1	-	37	6262	c.6071C>T	c.(6070-6072)tCc>tTc	p.S2024F	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2024					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S2024F(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATCCTTTTCGGAGGCGGCTTT	0.418000													29	20					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769761	37769761	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37769761G>A	ENST00000402918.1	-	3	2599	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.P605L	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	605				P -> S (in Ref. 1; BAB67797).		cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCCTTGTAGGGAGGCGAAAG	0.692000													5	7					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888072	25888072	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:25888072C>T	ENST00000376351.3	+	11	3876	c.3517C>T	c.(3517-3519)Cct>Tct	p.P1173S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1173						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAGGTTTGTCCTTGGGAGTT	0.453000													19	23					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023653	18023653	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18023653G>A	ENST00000361221.3	+	29	3777	c.3618G>A	c.(3616-3618)gaG>gaA	p.E1206E	ARHGEF10L_ENST00000375415.1_Silent_p.E1167E|ARHGEF10L_ENST00000452522.1_Silent_p.E1167E|ARHGEF10L_ENST00000375408.3_Silent_p.E979E|ARHGEF10L_ENST00000167825.4_Silent_p.E909E|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1206					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACAGCGAGGAGGACGGCTCCA	0.697000													19	16					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34877972	34877972	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34877972A>C	ENST00000381831.3	-	20	2884	c.2621T>G	c.(2620-2622)tTt>tGt	p.F874C	GART_ENST00000543717.1_Missense_Mutation_p.F426C|GART_ENST00000381815.4_Missense_Mutation_p.F874C|GART_ENST00000381839.3_Missense_Mutation_p.F874C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	874	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGCACTGTCAAATTCTACACG	0.338000													8	32					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117058379	117058379	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117058379A>G	ENST00000324225.4	+	12	1654	c.1123A>G	c.(1123-1125)Agc>Ggc	p.S375G	SIDT2_ENST00000431081.2_Missense_Mutation_p.S379G	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	375						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCTGGTTGACAGCGCTGGCAC	0.592000													7	42					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157962	155157962	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:155157962C>T	ENST00000392825.3	+	9	1583	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.S339F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	339	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTTACTTGCTCCCATGTTGGT	0.423000													30	91					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35902459	35902459	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:35902459G>A	ENST00000339208.6	-	15	2957	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	SYNRG_ENST00000346661.4_Silent_p.I939I|SYNRG_ENST00000394378.2_Silent_p.I861I|SYNRG_ENST00000502449.2_Silent_p.I816I|SYNRG_ENST00000345615.4_Silent_p.I861I|SYNRG_ENST00000585472.1_Silent_p.I860I|SYNRG_ENST00000591288.1_Silent_p.I733I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	939					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGTCATGGTGATGTTTTCAG	0.453000													86	1					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281117	49281117	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:49281117G>A	ENST00000282018.3	+	1	167	c.164G>A	c.(163-165)gGa>gAa	p.G55E		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	55					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GGAGTCTTGGGAAATGGGTTG	0.378000													24	43					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145724214	145724214	+	Silent	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145724214C>A	ENST00000292539.4	+	3	1238	c.321C>A	c.(319-321)gcC>gcA	p.A107A	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.A107A			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	107						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTGACGGCCCTGCACCAGG	0.657000													24	27					7.92952e-12	7.97453e-12	1	1	0
HRNR	388697	broad.mit.edu	37	1	152193693	152193693	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152193693C>T	ENST00000368801.2	-	3	487	c.412G>A	c.(412-414)Gat>Aat	p.D138N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	138					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATAGGAATCATTCTCTCCT	0.423000													42	74					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1411451	1411451	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1411451G>A	ENST00000406424.4	-	8	1256	c.396C>T	c.(394-396)tcC>tcT	p.S132S	INPP5K_ENST00000542125.1_Intron|INPP5K_ENST00000397335.3_Silent_p.S116S|INPP5K_ENST00000320345.6_Silent_p.S132S|INPP5K_ENST00000421807.2_Silent_p.S208S	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	208	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GATTTTTAATGGATTCCCGAA	0.542000													119	444					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067555	190067555	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:190067555G>A	ENST00000367462.3	-	8	2125	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	FAM5C_ENST00000534846.1_Missense_Mutation_p.R530C|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		632						extracellular region		p.R632C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GACTTGATGCGACTTCTCAGG	0.423000													114	113					0	0	1	0	0
FAM206A	54942	broad.mit.edu	37	9	111698619	111698619	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:111698619C>T	ENST00000322940.6	+	3	469	c.163C>T	c.(163-165)Cca>Tca	p.P55S	FAM206A_ENST00000374624.3_Missense_Mutation_p.P55S	NM_017832.3	NP_060302.1	Q9NX38	CI006_HUMAN	family with sequence similarity 206, member A	55					glycine catabolic process	glycine cleavage complex											AGAATCTCATCCAGTTCTTCA	0.383000													15	46					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113885247	113885247	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113885247C>T	ENST00000409930.3	+	1	110	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	IL1RN_ENST00000259206.5_Intron|IL1RN_ENST00000354115.2_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000409052.1_Intron	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	16					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CACTCTCCTCCTCTTCCTGTT	0.542000									Lichen Sclerosis et Atrophicus, Familial Clustering of				20	45					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656013	40656013	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:40656013C>T	ENST00000406785.1	-	2	1597	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	SLC8A1_ENST00000405901.3_Missense_Mutation_p.D470N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D470N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D470N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D470N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	470	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTGGGTATCACCAGGCTTA	0.408000													24	14					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960473	143960473	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:143960473C>T	ENST00000292427.4	-	2	402	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	CYP11B1_ENST00000517471.1_Missense_Mutation_p.G124R|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G169R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	124					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CATTTGTGCCCACGATGTTGT	0.632000									Familial Hyperaldosteronism type I				21	24					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090581	22090581	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22090581C>T	ENST00000542354.1	+	0	253																											ACCCACATTTCTTTCTTACAA	0.478000													32	103					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525895	176525895	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176525895C>T	ENST00000367662.3	+	2	1601	c.437C>T	c.(436-438)gCt>gTt	p.A146V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	146					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GATGATGACGCTTATCTCGGC	0.547000													68	68					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898776	28898776	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28898776G>A	ENST00000395503.4	+	8	845	c.661G>A	c.(661-663)Ggc>Agc	p.G221S	ATP2A1_ENST00000357084.3_Missense_Mutation_p.G221S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G96S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	221					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CAAGGCCTTGGGCATCGTGGC	0.607000													15	33					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211496	59211496	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59211496C>T	ENST00000302030.2	+	1	880	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATTGGTGATCCCCATGCTGA	0.483000													77	107					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10792002	10792002	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:10792002C>T	ENST00000313243.2	-	10	1604	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	MAK_ENST00000536370.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.E408K|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.E408K|MAK_ENST00000538030.1_Missense_Mutation_p.E408K			P20794	MAK_HUMAN	male germ cell-associated kinase	408					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCCAACTCTTCCCAGCTATCT	0.443000													42	39					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083641	15083641	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15083641C>T	ENST00000598504.1	-	4	1441	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	SLC1A6_ENST00000221742.3_Missense_Mutation_p.E28K|SLC1A6_ENST00000430939.2_Missense_Mutation_p.G32E|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E28K|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E28K	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	28					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGCAGGCTTTCCTGCAGCCGC	0.662000													9	10					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217128	21217128	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21217128G>A	ENST00000380216.1	-	1	182	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	59					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGGGGAATCCGAAATCATATC	0.502000													41	76					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803699	54803699	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54803699C>T	ENST00000391745.1	-	7	492	c.176G>A	c.(175-177)gGg>gAg	p.G59E	LILRA3_ENST00000251390.3_Missense_Mutation_p.G42E|LILRA3_ENST00000391744.3_Missense_Mutation_p.G42E					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACAGGACTCCCTTGGGTGAT	0.547000													101	4					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	436590	436590	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:436590G>C	ENST00000338977.5	-	2	1678	c.1630C>G	c.(1630-1632)Ccc>Gcc	p.P544A	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.P556A|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CATGTGTAGGGTTTCTCTCCA	0.403000													29	7					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603346	47603346	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47603346C>T	ENST00000371891.3	+	1	220	c.189C>T	c.(187-189)atC>atT	p.I63I	CYP4A22_ENST00000371890.3_Silent_p.I63I|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.I63I	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	63						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGGGCACATCCAGGAGGTAG	0.587000													21	32					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331632	21331632	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21331632G>A	ENST00000256958.2	+	6	700	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	202					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTCGCTAAAGAAGGACATTC	0.338000													27	28					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45175850	45175850	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45175850T>C	ENST00000291565.4	+	11	1028	c.845T>C	c.(844-846)gTg>gCg	p.V282A	PDXK_ENST00000468090.1_Missense_Mutation_p.V254A|PDXK_ENST00000467908.1_Missense_Mutation_p.V242A	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	282					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGGGAAGGAGTGAGGCCCAGC	0.667000													9	23					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818333	200818333	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200818333A>C	ENST00000358823.2	+	11	2706	c.2436A>C	c.(2434-2436)aaA>aaC	p.K812N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.K796N|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.K823N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	823						cytoplasm|microtubule	protein binding										AAGATGAGAAAGTATATACTG	0.433000													19	92					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21705462	21705462	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21705462G>A	ENST00000540918.2	+	5	697	c.447G>A	c.(445-447)ttG>ttA	p.L149L	TTC39C_ENST00000304621.6_Silent_p.L395L|TTC39C_ENST00000317571.3_Silent_p.L456L			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	456							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TGTTGTACTTGTGGAAAGCTC	0.453000													5	104					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622533	38622533	+	Silent	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38622533G>C	ENST00000413689.1	-	17	3310	c.3117C>G	c.(3115-3117)ccC>ccG	p.P1039P	SCN5A_ENST00000414099.2_Silent_p.P1039P|SCN5A_ENST00000423572.2_Silent_p.P1039P|SCN5A_ENST00000425664.1_Silent_p.P1039P|SCN5A_ENST00000333535.4_Silent_p.P1039P|SCN5A_ENST00000443581.1_Silent_p.P1039P|SCN5A_ENST00000449557.2_Silent_p.P1039P|SCN5A_ENST00000451551.2_Silent_p.P1039P|SCN5A_ENST00000455624.2_Silent_p.P1039P|SCN5A_ENST00000450102.2_Silent_p.P1039P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1039					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGATCCCCGGGGGTGCCCT	0.642000													11	10					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364265	103364265	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103364265C>T	ENST00000358392.2	-	56	4558	c.4241G>A	c.(4240-4242)gGa>gAa	p.G1414E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1286E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1402E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1363E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1402	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGCTTTCCTGCAGGTCC	0.463000													23	16					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58018240	58018240	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:58018240G>A	ENST00000290871.5	+	3	459	c.422G>A	c.(421-423)gGg>gAg	p.G141E	TEPP_ENST00000441824.2_Missense_Mutation_p.G141E|TEPP_ENST00000569996.1_3'UTR	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	141						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						ACACTCCTTGGGGTCCCCAAC	0.527000													60	10					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104172186	104172186	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:104172186C>T	ENST00000020673.5	-	6	2226	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	PSD_ENST00000406432.1_Missense_Mutation_p.R567Q	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	567	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCATCTAGTCGGTACAGCCT	0.622000													23	2					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66481867	66481867	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66481867G>A	ENST00000533211.1	-	6	826	c.495C>T	c.(493-495)atC>atT	p.I165I	SPTBN2_ENST00000529997.1_Silent_p.I165I|SPTBN2_ENST00000309996.2_Silent_p.I165I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	165	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTCCACACTGATGTCTTGGA	0.537000													26	36					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182874720	182874720	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:182874720T>G	ENST00000367547.3	-	7	1483	c.1247A>C	c.(1246-1248)aAt>aCt	p.N416T	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.N297T	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	488										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ACTATAACAATTATCCAAAGC	0.343000													7	59					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580456	77580456	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77580456T>C	ENST00000361786.2	+	4	1312	c.995T>C	c.(994-996)aTc>aCc	p.I332T	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	332										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TTGCTGGAGATCACTTTGAAA	0.468000													14	44					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968623	69968623	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69968623C>T	ENST00000299293.2	+	10	1925	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	FRS2_ENST00000397997.2_Missense_Mutation_p.A472V|FRS2_ENST00000549921.1_Missense_Mutation_p.A472V|FRS2_ENST00000550389.1_Missense_Mutation_p.A472V	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	472					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGCTGTATGCCGTGATAGAC	0.483000													36	144					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127257	45127257	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:45127257G>A	ENST00000296129.1	-	9	2518	c.2384C>T	c.(2383-2385)cCt>cTt	p.P795L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	795						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGGGAGCGAGGAGGTGGCTC	0.587000													33	29					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154308188	154308188	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154308188C>T	ENST00000285873.7	-	6	888	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	271					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCTCTTCTCTTCAGAAAGG	0.473000													25	26					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242427	126242427	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126242427C>T	ENST00000394329.3	+	1	4874	c.4861C>T	c.(4861-4863)Ctt>Ttt	p.L1621F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1621	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCATCATTCTTCAGGGCCT	0.428000													19	52					0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5269664	5269664	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5269664G>A	ENST00000330597.3	-	3	456	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	123					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGGGGTGAATTCTTTGC	0.512000													25	24					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183088604	183088604	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:183088604G>A	ENST00000435564.1	-	7	1011	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	PDE1A_ENST00000456212.1_Missense_Mutation_p.H271Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.H167Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.H255Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.H271Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.H255Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.H271Y|PDE1A_ENST00000410103.1_Missense_Mutation_p.H271Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.H237Y	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	271	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTCTGAATGTGAAAGTTGTTT	0.308000													9	14					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2760924	2760924	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2760924A>C	ENST00000399655.1	+	32	4329	c.4064A>C	c.(4063-4065)aAg>aCg	p.K1355T	CACNA1C_ENST00000399634.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K1375T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K1377T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K1344T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K1355T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.K1403T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K1344T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K1372T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K1380T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K1383T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K1355T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K1355T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K1342T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1403					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCTTCATCAAGTCCTTCCAG	0.647000													4	14					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34082451	34082451	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34082451G>A	ENST00000397527.1	+	24	3854	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R989Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1045	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGTATAACCGAATTCAGAAG	0.537000													30	50					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913876	23913876	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23913876G>A	ENST00000382298.3	-	10	4727	c.4139C>T	c.(4138-4140)cCt>cTt	p.P1380L	SACS_ENST00000402364.1_Missense_Mutation_p.P630L|SACS_ENST00000382292.3_Missense_Mutation_p.P1380L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1380					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGATGTATAGGAACTGGTGT	0.353000													32	21					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136432945	136432945	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136432945A>G	ENST00000264160.4	+	19	2461	c.2091A>G	c.(2089-2091)atA>atG	p.I697M	R3HDM1_ENST00000409478.1_Missense_Mutation_p.I569M|R3HDM1_ENST00000409606.1_Missense_Mutation_p.I698M|R3HDM1_ENST00000410054.1_Missense_Mutation_p.I642M|R3HDM1_ENST00000329971.3_Missense_Mutation_p.I568M	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	697							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCAAGGAATAGTTGGAGTTC	0.428000													11	56					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152321017	152321017	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152321017A>G	ENST00000243326.4	+	29	5466	c.4983A>G	c.(4981-4983)gaA>gaG	p.E1661E	RIF1_ENST00000453091.2_Silent_p.E1661E|RIF1_ENST00000430328.2_Silent_p.E1661E|RIF1_ENST00000444746.2_Silent_p.E1661E|RIF1_ENST00000428287.2_Silent_p.E1661E			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1661					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATATGCAGAATATTCCTTTA	0.338000													9	29					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48273742	48273742	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:48273742G>A	ENST00000435803.1	+	8	915	c.891G>A	c.(889-891)ctG>ctA	p.L297L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	297					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCTGAACTGAAGGAGGTAC	0.522000													29	71					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745578	32745578	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32745578A>G	ENST00000333070.4	+	11	1368	c.1268A>G	c.(1267-1269)gAg>gGg	p.E423G	LCK_ENST00000336890.5_Missense_Mutation_p.E393G|LCK_ENST00000373564.3_Missense_Mutation_p.E400G	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	393	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GAGGACAACGAGTACACAGCC	0.557000			T	TRB@	T-ALL								15	63					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764513	205764513	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205764513G>A	ENST00000367137.3	-	9	2180	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	389						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACAGCGGCGAGGAGCTTGCTC	0.612000													20	28					0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117085953	117085953	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:117085953A>C	ENST00000538816.1	+	1	577	c.540A>C	c.(538-540)caA>caC	p.Q180H	ORM1_ENST00000259396.8_Missense_Mutation_p.K42T			P02763	A1AG1_HUMAN	orosomucoid 1	0					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ATCACTGGCAAGTGGTTTTAT	0.507000													7	74					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32768572	32768572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32768572C>T	ENST00000421745.2	+	62	12690	c.12556C>T	c.(12556-12558)Cga>Tga	p.R4186*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4186					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGCCTTCTTCGATTGGTATT	0.413000													11	44					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114515828	114515828	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114515828T>C	ENST00000369558.1	+	16	3559	c.3327T>C	c.(3325-3327)gcT>gcC	p.A1109A	HIPK1_ENST00000426820.2_Silent_p.A1109A|HIPK1_ENST00000369561.4_Silent_p.A1075A|HIPK1_ENST00000369554.2_Silent_p.A1064A|HIPK1_ENST00000369553.1_Silent_p.A715A|HIPK1_ENST00000369555.2_Silent_p.A1064A|HIPK1_ENST00000340480.4_Silent_p.A735A|HIPK1_ENST00000406344.1_Silent_p.A715A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGCCAGGCTCATCTGTATA	0.612000													17	192					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413442	179413442	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179413442C>T	ENST00000589042.1	-	339	93135	c.92911G>A	c.(92911-92913)Gat>Aat	p.D30971N	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22098N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21906N|TTN_ENST00000359218.5_Missense_Mutation_p.D22031N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D29330N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28403N|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29330	Fibronectin type-III 126.						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)			GTATGGATATCAGCCCGAAGG	0.478000													49	25					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74721318	74721318	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:74721318G>A	ENST00000380494.5	-	6	1140	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.H155Y|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.H155Y	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	155					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CGTAAACTGTGGCCTTTCTGC	0.388000													18	23					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750541	79750541	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:79750541T>G	ENST00000305428.3	+	2	2127	c.2052T>G	c.(2050-2052)tcT>tcG	p.S684S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	684						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGTGCTGCTCTGATGCTAGCG	0.567000													42	58					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30507696	30507696	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30507696C>T	ENST00000375938.4	+	7	787	c.534C>T	c.(532-534)ttC>ttT	p.F178F	TTLL9_ENST00000310998.4_Silent_p.F128F|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375934.4_Silent_p.F160F|TTLL9_ENST00000535842.1_Silent_p.F178F|TTLL9_ENST00000375922.4_Intron			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	178	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGCATCTTCCTCTTCCGTA	0.627000													34	47					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009523	5009523	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5009523G>A	ENST00000380390.1	+	2	298	c.82G>A	c.(82-84)Gga>Aga	p.G28R	MMP26_ENST00000300762.1_Missense_Mutation_p.G28R|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	28					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGACCATAAAGGATGGGACTT	0.488000													44	44					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78447020	78447020	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78447020C>T	ENST00000306773.4	-	3	1034	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	293	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ATGAGGATCTCCATGGGGTTG	0.657000													61	34					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328686	48328686	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48328686G>A	ENST00000319988.1	+	1	912	c.912G>A	c.(910-912)agG>agA	p.R304R		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGTCAAGAGGAGCTTAGGGG	0.418000													16	13					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73808245	73808245	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:73808245C>T	ENST00000293218.3	+	4	595	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	UNK_ENST00000589666.1_Missense_Mutation_p.R123C			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	123							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACCACCTTCGTTACTACAA	0.567000													71	2					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946398	71946398	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71946398C>T	ENST00000541756.1	+	23	2766	c.1836C>T	c.(1834-1836)acC>acT	p.T612T	INPPL1_ENST00000538751.1_Silent_p.T612T|INPPL1_ENST00000298229.2_Silent_p.T854T			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	854					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGTTCCTGACCTTCCTATCCC	0.587000													86	142					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091181	32091181	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:32091181G>A	ENST00000438447.1	+	20	8015	c.7627G>A	c.(7627-7629)Gga>Aga	p.G2543R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2543					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGTCCAGGAGGAAGTGGCCC	0.577000													94	20					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467334	85467334	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85467334C>T	ENST00000394573.1	+	12	1278	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	SLC28A1_ENST00000537624.1_Missense_Mutation_p.S359F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S359F|SLC28A1_ENST00000537703.1_Missense_Mutation_p.S281F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S359F|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S359F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	359					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTACATCTCCTTTGGGGTA	0.582000													28	46					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632721	158632721	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158632721G>A	ENST00000368148.3	-	17	2415	c.2235C>T	c.(2233-2235)atC>atT	p.I745I	SPTA1_ENST00000368147.3_Silent_p.I745I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	745					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTCTGTAAGGATATCCACCT	0.428000													29	40					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808288	18808288	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18808288G>A	ENST00000400664.1	+	1	865	c.813G>A	c.(811-813)gaG>gaA	p.E271E		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	271						integral to membrane				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)		TCCGAATGGAGGAGCATTTCA	0.587000													32	140					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183382805	183382805	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183382805A>C	ENST00000454652.1	+	6	1588	c.1202A>C	c.(1201-1203)aAa>aCa	p.K401T	KLHL24_ENST00000476808.1_Missense_Mutation_p.K401T|KLHL24_ENST00000242810.6_Missense_Mutation_p.K401T			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	401						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGGCGTCACAAAATGGCTGTC	0.388000													5	134					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759387	55759387	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:55759387G>A	ENST00000343399.3	+	1	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GCTGCAGTTGGATTTCTGTGC	0.438000													22	2					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242027813	242027813	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242027813T>G	ENST00000310397.8	+	31	4239	c.4239T>G	c.(4237-4239)tcT>tcG	p.S1413S	SNED1_ENST00000342631.6_Silent_p.S1380S|MTERFD2_ENST00000488567.1_5'UTR|SNED1_ENST00000405547.3_Silent_p.S1352S	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1413					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGGAGAAATCTTAAGGTACGT	0.507000													13	66					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9197094	9197094	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9197094C>T	ENST00000327827.7	+	3	958	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	187										endometrium(4)|large_intestine(2)|lung(2)	8						TGCAACCCTTCCGGGAAGCCA	0.463000													15	24					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068306	89068306	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:89068306A>C	ENST00000251038.5	+	11	1618	c.1393A>C	c.(1393-1395)Aga>Cga	p.R465R	ZC3H14_ENST00000555755.1_Silent_p.R465R|ZC3H14_ENST00000393514.5_Silent_p.R440R|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000555900.1_Silent_p.R167R|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000556945.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	465						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TGCAGACACAAGATCATTTAT	0.413000													17	61					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8819022	8819022	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:8819022A>T	ENST00000359865.3	+	13	3063	c.2921A>T	c.(2920-2922)aAc>aTc	p.N974I	SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.N1293I|SOGA2_ENST00000517570.1_Missense_Mutation_p.N933I|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Missense_Mutation_p.N933I	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1284																	AAAGACGGCAACGTTCGCCCC	0.522000													23	139					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640556	58640556	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58640556G>A	ENST00000598312.1	-	4	548	c.315C>T	c.(313-315)ccC>ccT	p.P105P	ZNF329_ENST00000358067.4_Silent_p.P105P	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGGTAAGGCGGGGTCACAAT	0.453000													59	144					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	883214	883214	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:883214C>T	ENST00000457378.2	+	7	1014	c.778C>T	c.(778-780)Cct>Tct	p.P260S	SUN1_ENST00000389574.3_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.P239S|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATATTTCCTTTCTGTAA	0.393000													18	44					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853843	122853843	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:122853843G>A	ENST00000264811.5	-	1	769	c.351C>T	c.(349-351)atC>atT	p.I117I	TRPC3_ENST00000513531.1_Silent_p.I117I|TRPC3_ENST00000379645.3_Silent_p.I190I	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	105					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGCCTCTACGATGCGCACGT	0.632000													12	28					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709862	102709862	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102709862C>T	ENST00000299855.5	-	7	1304	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	350	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAAACGAGGTCCTTGCTAGTA	0.373000													42	3					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356694	37356694	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:37356694C>T	ENST00000373091.3	-	2	135	c.119G>A	c.(118-120)gGa>gAa	p.G40E	GRIK3_ENST00000373093.4_Missense_Mutation_p.G40E	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	40					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCGAAGATTCCTCCTGTGAA	0.498000													79	162					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6849702	6849702	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6849702C>T	ENST00000381309.3	+	5	1194		c.e5+2		KDM4C_ENST00000489243.1_Splice_Site|KDM4C_ENST00000536108.1_Splice_Site|KDM4C_ENST00000535193.1_Splice_Site|KDM4C_ENST00000442236.2_Splice_Site|KDM4C_ENST00000381306.3_Splice_Site|KDM4C_ENST00000543771.1_Splice_Site	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAAGTCTTGGCAAGTTACTTG	0.388000													15	67					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400568	67400568	+	Missense_Mutation	SNP	G	G	A	rs60988467		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67400568G>A	ENST00000335385.3	-	5	643	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	186					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ATAGAGTTGAGAATGATCTGT	0.597000													104	137					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64210643	64210643	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:64210643C>T	ENST00000205948.6	-	7	947	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	304	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CACTTCTTTTCCTTATTTTTG	0.398000													9	45					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431792	45431792	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:45431792C>T	ENST00000361462.2	+	1	351	c.168C>T	c.(166-168)gaC>gaT	p.D56D	FAM179B_ENST00000361577.3_Silent_p.D56D|FAM179B_ENST00000382233.2_Silent_p.D56D			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	56							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGCGGGGGACCACGGTTCCT	0.597000													17	17					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92484038	92484038	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92484038T>C	ENST00000267622.4	-	5	1018	c.645A>G	c.(643-645)caA>caG	p.Q215Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	215					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAATGATATTTTGTAGTTTAC	0.294000			T	PDGFRB	AML								10	9					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788919	117788919	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:117788919G>A	ENST00000276204.6	+	44	5038	c.4964G>A	c.(4963-4965)cGa>cAa	p.R1655Q	DOCK11_ENST00000276202.7_Missense_Mutation_p.R1655Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1655	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTCTTCATCGAAAAAGTAAG	0.348000													52	2					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184679652	184679652	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:184679652G>A	ENST00000318130.8	-	16	1987	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	EDEM3_ENST00000367512.3_Missense_Mutation_p.P531L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	574					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCAGAGGGGGTTTAGCTCC	0.413000													24	61					0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	675508	675508	+	Splice_Site	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:675508A>T	ENST00000535977.1	+	5	563	c.342_splice	c.e5+1	p.E114_splice	RAB40C_ENST00000539661.1_Splice_Site_p.E114_splice|RAB40C_ENST00000538492.1_Splice_Site_p.E114_splice|RAB40C_ENST00000248139.3_Splice_Site_p.E114_splice	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	114					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GAGATCGATGAGGTAGGCCTG	0.637000													3	24					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44268344	44268344	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44268344G>A	ENST00000244571.4	-	22	2900	c.2898C>T	c.(2896-2898)agC>agT	p.S966S	AARS2_ENST00000491573.1_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	966					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GGTCAGTAGTGCTTCCGGTGC	0.632000													43	148					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182976	114182976	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:114182976G>A	ENST00000535401.1	+	5	836	c.572G>A	c.(571-573)gGc>gAc	p.G191D	NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.G191D|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	191					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AAGCCAGGGGGCTTCCTGGTG	0.622000													43	0					0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128801527	128801527	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128801527C>T	ENST00000289407.4	+	2	219	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	37						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGGTGATTTCCATGGTGATG	0.557000													88	101					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258391	9258391	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9258391A>C	ENST00000383440.2	+	8	5314	c.5057A>C	c.(5056-5058)aAa>aCa	p.K1686T	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K1686T|ANKRD12_ENST00000262126.3_Missense_Mutation_p.K1709T	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1709						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAATGCATAAATATGGTCAG	0.338000													3	35					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52602717	52602717	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52602717A>T	ENST00000521508.1	+	4	1475	c.1470A>T	c.(1468-1470)ttA>ttT	p.L490F	ALG11_ENST00000523764.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGGAAAAGTTATTTAAGTAAT	0.299000													13	15					0	0	1	0	0
VMAC	400673	broad.mit.edu	37	19	5908948	5908948	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5908948A>C	ENST00000339485.3	+	2	338	c.305A>C	c.(304-306)gAg>gCg	p.E102A	AC104532.2_ENST00000588891.1_Intron	NM_001017921.3	NP_001017921.1	Q2NL98	VMAC_HUMAN	vimentin-type intermediate filament associated coiled-coil protein	102						cytoplasm				lung(1)	1						CCCCGGGCTGAGCTGCTGCAG	0.697000													6	30					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100543843	100543843	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:100543843G>A	ENST00000457717.1	+	19	2779	c.2523G>A	c.(2521-2523)gaG>gaA	p.E841E	MTTP_ENST00000511045.1_Silent_p.E868E|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.E841E	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	841					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGCAATTTGAGAAAAAGTACG	0.408000													21	48					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984696	51984696	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51984696G>A	ENST00000396477.4	+	3	471	c.450G>A	c.(448-450)gaG>gaA	p.E150E	CEACAM18_ENST00000451626.1_Silent_p.E211E	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	211						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCTGGTGGAGAACATGGATT	0.493000													24	30					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183961734	183961734	+	Silent	SNP	G	G	A	rs142901178	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183961734G>A	ENST00000455059.1	-	6	1111	c.657C>T	c.(655-657)tcC>tcT	p.S219S	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000445626.2_Silent_p.S211S|ALG3_ENST00000397676.3_Silent_p.S259S|ALG3_ENST00000418734.2_Silent_p.S203S			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	259					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAAGGAGCGGGACAGGTAGC	0.612000													70	39					0	0	1	0	0
EFNA1	1942	broad.mit.edu	37	1	155106494	155106494	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155106494T>G	ENST00000368407.3	+	5	1087	c.569T>G	c.(568-570)cTt>cGt	p.L190R	EFNA1_ENST00000368406.2_Missense_Mutation_p.L168R|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	190					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTTCCCACTTGCCTGGACT	0.582000													10	35					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154190886	154190886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154190886C>T	ENST00000336314.4	+	17	2716	c.2692C>T	c.(2692-2694)Cag>Tag	p.Q898*		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	975							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAGGATTTTCAGGAGGAAAC	0.483000													22	33					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33746049	33746049	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33746049A>T	ENST00000539719.1	+	5	844	c.674A>T	c.(673-675)aAg>aTg	p.K225M	ZNF362_ENST00000373428.5_Missense_Mutation_p.K225M	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGGAGGGCAAGACGTACAGG	0.672000													4	16					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12574842	12574842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12574842G>A	ENST00000397732.3	-	4	2065	c.1894C>T	c.(1894-1896)Cga>Tga	p.R632*	ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R632*|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTCGAAAGGAACGG	0.368000													83	95					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061917	100061917	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:100061917G>A	ENST00000524871.1	+	14	1930	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	CNTN5_ENST00000418526.2_Missense_Mutation_p.G473E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G547E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G547E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G547E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	547	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCAGACGAGGGAAAGTACGTT	0.383000													19	0					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135992	55135992	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55135992C>T	ENST00000314706.3	+	1	633	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTTGTATCCCTTATTGAAAC	0.413000													43	56					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143047534	143047534	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143047534C>T	ENST00000343257.2	+	21	2560	c.2473C>T	c.(2473-2475)Ccc>Tcc	p.P825S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	825	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGACCAGTCTCCCTTCCAGCT	0.557000													17	23					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763337	56763337	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:56763337A>T	ENST00000413728.2	-	10	2103	c.1560T>A	c.(1558-1560)tcT>tcA	p.S520S	ARHGEF3_ENST00000496106.1_Silent_p.S520S|ARHGEF3_ENST00000338458.4_Silent_p.S546S|ARHGEF3_ENST00000497267.1_Silent_p.S485S|ARHGEF3_ENST00000296315.3_Silent_p.S514S	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	514					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTCCACAGGAAGAGTCTGTCT	0.507000													5	34					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133275	64133275	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:64133275G>A	ENST00000295902.6	-	7	1476	c.891C>T	c.(889-891)ttC>ttT	p.F297F	PRICKLE2_ENST00000564377.1_Silent_p.F353F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	297	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTCGGGAGGAATGGCCGCC	0.577000													34	79					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950540	235950540	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:235950540C>T	ENST00000409212.1	+	4	1634	c.1127C>T	c.(1126-1128)cCt>cTt	p.P376L	SH3BP4_ENST00000392011.2_Missense_Mutation_p.P376L|SH3BP4_ENST00000344528.4_Missense_Mutation_p.P376L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	376					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCATCAGCCCTGTGCTGGAG	0.552000													15	30					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196388306	196388306	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196388306T>G	ENST00000328557.4	+	3	1995	c.1792T>G	c.(1792-1794)Tgc>Ggc	p.C598G		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		TCCATATGACTGCTGTGGGGT	0.607000													26	189					0	0	1	0	0
CSF2	1437	broad.mit.edu	37	5	131409651	131409651	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131409651G>A	ENST00000296871.2	+	1	169	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	45					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCCTGAACCTGAGTAGAGACA	0.637000													15	22					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52937239	52937239	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:52937239A>C	ENST00000281741.4	-	15	1843	c.1472T>G	c.(1471-1473)tTt>tGt	p.F491C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	491	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CAGCTGGATAAATTTTAGGAG	0.333000													6	24					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193314	132193314	+	Missense_Mutation	SNP	G	G	A	rs145305830		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:132193314G>A	ENST00000359827.3	-	2	1101	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PLXNA4_ENST00000378539.5_Missense_Mutation_p.P47S|PLXNA4_ENST00000423507.2_Missense_Mutation_p.P47S|PLXNA4_ENST00000321063.4_Missense_Mutation_p.P47S			Q9HCM2	PLXA4_HUMAN	plexin A4	47	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCTCGGCGGGCTCTCCTCGG	0.592000													28	33					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943076	20943076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20943076C>T	ENST00000361505.5	+	4	576	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	144					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TTTCAGTGGTCAGAACCCTCT	0.473000													17	41					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996203	100996203	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:100996203G>A	ENST00000284382.4	-	12	1317	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CERS3_ENST00000538112.2_Silent_p.F298F|CERS3_ENST00000394113.1_Silent_p.F298F|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	298	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGTATGAAAAGAAAGGCTCGA	0.393000													14	22					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079989	29079989	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29079989C>A	ENST00000377169.1	+	1	322	c.322C>A	c.(322-324)Ctc>Atc	p.L108I		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTACTTTGTTCTCGCACTGGG	0.502000													112	124					2.99567e-70	3.02939e-70	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15303220	15303220	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15303220C>T	ENST00000263388.2	-	3	383	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	103	EGF-like 2.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCATGAGAATCGGGCGGTGCC	0.657000													16	17					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949457	38949457	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38949457C>T	ENST00000450244.1	-	10	1654	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E486K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E486K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E486K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	486					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGCAATCTTCATCAGAATCT	0.393000													26	12					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43292654	43292654	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:43292654A>C	ENST00000325110.6	-	10	1601	c.1395T>G	c.(1393-1395)acT>acG	p.T465T	HMGCS1_ENST00000433297.2_Silent_p.T465T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	465					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GCCGAGCGTAAGTTCTTCTGT	0.428000													12	65					0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126499	32126499	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:32126499A>T	ENST00000265070.6	-	4	1031	c.716T>A	c.(715-717)cTc>cAc	p.L239H		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	239					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CAGGTAAATGAGGGCCAGCAA	0.517000													16	94					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541788	133541788	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:133541788G>A	ENST00000409261.1	-	14	2969	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P866S|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	866							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATGTTTTGGAATGTGTGGA	0.542000													53	42					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42583966	42583966	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42583966T>G	ENST00000600245.1	+	2	1863	c.1208T>G	c.(1207-1209)cTt>cGt	p.L403R	ZNF574_ENST00000222339.7_Missense_Mutation_p.L493R|ZNF574_ENST00000359044.4_Missense_Mutation_p.L403R|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TTTGTCAACCTTACCAAGTTC	0.597000													6	97					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160806260	160806260	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160806260C>T	ENST00000283243.7	-	25	3774	c.3568G>A	c.(3568-3570)Ggc>Agc	p.G1190S	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G1190S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1190	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GATTTGGTGCCATCAGACCAG	0.502000													12	39					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903870	129903870	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:129903870G>A	ENST00000368654.3	-	13	6609	c.6234C>T	c.(6232-6234)ggC>ggT	p.G2078G	MKI67_ENST00000368653.3_Silent_p.G1718G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2078	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)				GCTCTTTGAAGCCGGCCAGGT	0.498000													148	18					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47535813	47535813	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47535813G>A	ENST00000300527.4	+	6	933	c.829G>A	c.(829-831)Gga>Aga	p.G277R	COL6A2_ENST00000310645.5_Missense_Mutation_p.G277R|COL6A2_ENST00000409416.1_Missense_Mutation_p.G277R|COL6A2_ENST00000397763.1_Missense_Mutation_p.G277R|COL6A2_ENST00000357838.4_Missense_Mutation_p.G277R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	277	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGTGAGCCGGGAGAGCCTGG	0.657000													7	41					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2800218	2800218	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2800218C>T	ENST00000399655.1	+	47	6535	c.6270C>T	c.(6268-6270)ccC>ccT	p.P2090P	CACNA1C_ENST00000399634.1_Silent_p.P2161P|CACNA1C_ENST00000399601.1_Silent_p.P2090P|CACNA1C_ENST00000399617.1_Silent_p.P2125P|CACNA1C_ENST00000399606.1_Silent_p.P2110P|CACNA1C_ENST00000344100.3_Silent_p.P2131P|CACNA1C_ENST00000399603.1_Silent_p.P2090P|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399595.1_Silent_p.P2098P|CACNA1C_ENST00000402845.3_Silent_p.P2109P|CACNA1C_ENST00000347598.4_Silent_p.P2138P|CACNA1C_ENST00000406454.3_Silent_p.P2161P|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399591.1_Silent_p.P2098P|CACNA1C_ENST00000399621.1_Silent_p.P2109P|CACNA1C_ENST00000399644.1_Silent_p.P2090P|CACNA1C_ENST00000399641.1_Silent_p.P2090P|CACNA1C_ENST00000399629.1_Silent_p.P2107P|CACNA1C_ENST00000399597.1_Silent_p.P2090P|CACNA1C_ENST00000335762.5_Silent_p.P2115P|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399638.1_Silent_p.P2118P|CACNA1C_ENST00000399637.1_Silent_p.P2109P|CACNA1C_ENST00000327702.7_Silent_p.P2125P|CACNA1C_ENST00000399649.1_Silent_p.P2096P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2173					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACAGAGCCCCAATGGCGCCC	0.697000													6	4					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217579	26217579	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26217579A>C	ENST00000303910.2	+	1	415	c.377A>C	c.(376-378)aAg>aCg	p.K126T		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	126					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGCCACCATAAGGCCAAGGGC	0.522000													7	45					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70498678	70498678	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:70498678C>T	ENST00000260128.4	+	7	1216	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	SULF1_ENST00000402687.4_Missense_Mutation_p.R167C|SULF1_ENST00000419716.3_Missense_Mutation_p.R167C|SULF1_ENST00000458141.2_Missense_Mutation_p.R167C	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	167					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAGAATTCTCGCTTCTATAA	0.388000													49	71					0	0	1	0	0
C14orf80	283643	broad.mit.edu	37	14	105958614	105958614	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105958614G>A	ENST00000329886.7	+	4	533	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	C14orf80_ENST00000354560.6_Missense_Mutation_p.V133M|C14orf80_ENST00000334656.7_Missense_Mutation_p.V92M|C14orf80_ENST00000551054.1_3'UTR|C14orf80_ENST00000392523.4_Missense_Mutation_p.V133M|C14orf80_ENST00000450383.1_Missense_Mutation_p.V7M|C14orf80_ENST00000392522.3_Missense_Mutation_p.V133M|C14orf80_ENST00000392527.1_Missense_Mutation_p.V92M	NM_001198983.1	NP_001185912.1	Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	133										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CCAGGCCCGAGTGCCTCTGGG	0.672000													41	67					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217824497	217824497	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:217824497A>C	ENST00000366933.4	+	3	272	c.217A>C	c.(217-219)Aag>Cag	p.K73Q		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	73	IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CTTAGGCAGAAAGCAATATCA	0.289000													17	29					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999130	92999130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:92999130C>T	ENST00000523629.1	-	8	1516	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.W327*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.W317*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.W327*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.W317*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.W354*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.W365*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.W317*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	354	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAAGATGTTTCCACTCTTCTG	0.378000													54	68					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491735	30491735	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:30491735A>G	ENST00000222823.4	-	6	1823	c.1298T>C	c.(1297-1299)cTg>cCg	p.L433P		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	433	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CATCCTGTTCAGATGGACCTC	0.632000													4	74					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768880	121768880	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:121768880C>T	ENST00000282561.3	+	2	1044	c.887C>T	c.(886-888)tCt>tTt	p.S296F		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	296					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AGAAACAATTCTTCTTGCCGC	0.483000													25	26					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201966582	201966582	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201966582T>G	ENST00000295640.4	+	5	1033	c.990T>G	c.(988-990)agT>agG	p.S330R	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.S291R	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	330					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCACAGTTGGTTTGGGA	0.542000													27	67					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947882	35947882	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:35947882C>T	ENST00000216127.4	+	3	1246	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	202	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGCCCTGCATCGCAAGATCTC	0.612000													42	40					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245638	202245638	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202245638C>T	ENST00000367278.3	+	5	722	c.633C>T	c.(631-633)agC>agT	p.S211S	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	211						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S211S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCTCACCAGCCTTGTGGTGC	0.617000													14	10					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231174723	231174723	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:231174723G>A	ENST00000392045.3	+	23	2257	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	SP140_ENST00000420434.3_Missense_Mutation_p.D688N|SP140_ENST00000350136.5_Missense_Mutation_p.D584N|SP140_ENST00000343805.6_Missense_Mutation_p.D655N|SP140_ENST00000486687.2_Missense_Mutation_p.D639N|SP140_ENST00000417495.3_Missense_Mutation_p.D601N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	715					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)		CTTCCATGAGGACTGTCACAT	0.517000													27	58					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134945	27134945	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:27134945G>A	ENST00000343060.4	-	1	648	c.587C>T	c.(586-588)tCg>tTg	p.S196L	HOXA1_ENST00000355633.5_Silent_p.I128I	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	196						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGATGTCTCCGATGCGGGGGA	0.537000													29	103					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388824	1388824	+	Silent	SNP	A	A	G	rs71299249		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1388824A>G	ENST00000324803.4	+	1	3485	c.525A>G	c.(523-525)ggA>ggG	p.G175G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	175					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGCCCGCCT	0.677000													95	202					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834252	61834252	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61834252G>A	ENST00000280772.1	-	37	6578	c.6387C>T	c.(6385-6387)ggC>ggT	p.G2129G	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2129					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTTTCAAAGCCACTGTCAG	0.418000													29	72					0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128810152	128810152	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:128810152G>A	ENST00000315150.5	-	3	726	c.426C>T	c.(424-426)tcC>tcT	p.S142S	RAB43_ENST00000393307.1_Silent_p.S142S|ISY1-RAB43_ENST00000418265.1_3'UTR|RAB43_ENST00000393308.1_Silent_p.S142S|RAB43_ENST00000393305.1_Silent_p.S142S|RAB43_ENST00000393304.1_Silent_p.S142S|RAB43_ENST00000476465.1_3'UTR	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	142					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						CCTCAGCCAAGGAGACCTCCC	0.632000													5	12					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220284226	220284226	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220284226C>T	ENST00000366922.1	+	11	1541	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	IARS2_ENST00000302637.5_Missense_Mutation_p.R476C			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	476					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTGGTTATTCGTGCCAGCAA	0.413000													26	27					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357071	149357071	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:149357071C>T	ENST00000355292.3	-	2	1304	c.942G>A	c.(940-942)tcG>tcA	p.S314S	NR3C2_ENST00000344721.4_Silent_p.S314S|NR3C2_ENST00000358102.3_Silent_p.S314S|NR3C2_ENST00000511528.1_Silent_p.S314S|NR3C2_ENST00000512865.1_Silent_p.S314S|NR3C2_ENST00000342437.4_Silent_p.S314S			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	314	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TATTAGTGTTCGAAGGGCTGG	0.473000													39	28					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960884	29960884	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:29960884G>A	ENST00000253381.2	+	2	316	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	95					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACTACTTTGAAGTAAGCAG	0.468000													33	38					0	0	1	0	0
CXCL3	2921	broad.mit.edu	37	4	74904240	74904240	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:74904240C>T	ENST00000296026.4	-	1	166	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	30					immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			TGCTGCGCGCCGGCTGGCGGC	0.771000													8	0					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146204	111146204	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:111146204T>G	ENST00000485317.1	-	3	1874	c.1201A>C	c.(1201-1203)Act>Cct	p.T401P	KCNA2_ENST00000440270.1_Missense_Mutation_p.T401P|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.T401P			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	401						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAGGCAATAGTTAACACACCT	0.502000													18	59					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187442765	187442765	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:187442765G>A	ENST00000406870.2	-	9	2307	c.1941C>T	c.(1939-1941)agC>agT	p.S647S	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.S591S|BCL6_ENST00000232014.4_Silent_p.S647S|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	647					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCGCAGGTGGCTCTTCAGAG	0.582000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								21	104					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588885	33588885	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:33588885G>A	ENST00000504830.1	-	18	3019	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S810L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	895	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCATGTCGCCGAGCATGCTTC	0.582000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	19					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70733529	70733529	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70733529G>A	ENST00000322773.4	+	12	1139	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	346	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTGAACAAGGAGAAAAAGGA	0.318000													15	3					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	82000023	82000023	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:82000023G>A	ENST00000336735.4	-	1	182	c.66C>T	c.(64-66)tcC>tcT	p.S22S	SEL1L_ENST00000555824.1_Silent_p.S22S	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	22	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACTGACCCGAGGACGCCGAGG	0.721000													13	19					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143144	55143144	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55143144C>T	ENST00000396331.1	+	5	621	c.264C>T	c.(262-264)atC>atT	p.I88I	LILRB1_ENST00000396321.2_Silent_p.I88I|LILRB1_ENST00000396315.1_Silent_p.I88I|LILRB1_ENST00000396317.1_Silent_p.I88I|LILRB1_ENST00000418536.2_Silent_p.I88I|LILRB1_ENST00000324602.7_Silent_p.I88I|LILRB1_ENST00000427581.2_Silent_p.I124I|LILRB1_ENST00000448689.1_Silent_p.I88I|LILRB1_ENST00000396327.3_Silent_p.I88I|LILRB1_ENST00000434867.2_Silent_p.I88I|LILRB1_ENST00000396332.4_Silent_p.I88I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	88	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		TCCCATCCATCACCTGGGAAC	0.557000										HNSCC(37;0.09)			65	129					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34149772	34149772	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34149772A>G	ENST00000588240.1	+	6	534	c.419A>G	c.(418-420)gAt>gGt	p.D140G	AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000592237.1_Missense_Mutation_p.D49G|TAF15_ENST00000311979.3_Missense_Mutation_p.D137G|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	140	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAGCAGCATGATTCCTATAGT	0.408000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								19	37					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77764516	77764516	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:77764516G>A	ENST00000354212.4	-	17	3106	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	MAGI2_ENST00000522391.1_Silent_p.P951P|MAGI2_ENST00000419488.1_Silent_p.P937P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	951	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CGATTTTATGGGGCACAGCTA	0.453000													30	38					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3980032	3980032	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3980032G>A	ENST00000309311.6	-	10	1467	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	460						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTCGATGGGCTCCACGTA	0.622000													21	16					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475278	16475278	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16475278T>A	ENST00000358432.5	-	3	572	c.418A>T	c.(418-420)Acc>Tcc	p.T140S	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	140					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCAATCTTGGTGAACAGGCGC	0.607000													13	71					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057022	120057022	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:120057022T>G	ENST00000235547.6	+	4	1021	c.882T>G	c.(880-882)taT>taG	p.Y294*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y292*|HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.Y292*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	292					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CCCTGATGTATTGGATTGGCT	0.478000													18	114					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71796734	71796734	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:71796734T>C	ENST00000269500.5	-	5	798	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	FBXO15_ENST00000419743.2_Missense_Mutation_p.K231E	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	155										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGCCATTTTTTGCCATACCAT	0.368000													18	4					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31499077	31499077	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31499077C>T	ENST00000417556.2	-	9	1648	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	DDX39B_ENST00000396172.1_Missense_Mutation_p.E325K|DDX39B_ENST00000458640.1_Missense_Mutation_p.E325K|DDX39B_ENST00000376177.2_Missense_Mutation_p.E325K|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.E247K			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	325	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCTCACCTCTCCTCCTGGGGC	0.483000													33	26					0	0	1	0	0
FAM131A	131408	broad.mit.edu	37	3	184059766	184059766	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184059766C>T	ENST00000310585.4	+	1	1509	c.145C>T	c.(145-147)Cct>Tct	p.P49S	FAM131A_ENST00000418281.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron|FAM131A_ENST00000340957.5_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	49						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACATGGATCCTAACTACTG	0.557000													135	199					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36282615	36282615	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36282615T>G	ENST00000373210.3	+	2	397	c.152T>G	c.(151-153)aTt>aGt	p.I51S		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GATGTGGATATTAAGCCTGAA	0.358000													16	55					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92470752	92470752	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92470752G>A	ENST00000370389.2	+	18	3376	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	BRDT_ENST00000399546.2_Missense_Mutation_p.E891K|BRDT_ENST00000394530.3_Missense_Mutation_p.E845K|BRDT_ENST00000402388.1_Missense_Mutation_p.E891K|BRDT_ENST00000362005.3_Missense_Mutation_p.E891K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	891					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)		AGAGCAGAAAGAACATCAGCA	0.388000													47	60					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338642	19338642	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19338642T>C	ENST00000252575.5	+	8	2256	c.2213T>C	c.(2212-2214)tTt>tCt	p.F738S	NCAN_ENST00000538881.1_Missense_Mutation_p.F189S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	738					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCTGTAGGTTTTGTCCCCACT	0.577000													36	76					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128415079	128415079	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:128415079G>A	ENST00000409455.1	-	2	689	c.54C>T	c.(52-54)tcC>tcT	p.S18S	LIMS2_ENST00000324938.5_Silent_p.S47S|LIMS2_ENST00000410011.1_Silent_p.S18S|LIMS2_ENST00000545738.2_Silent_p.S45S|LIMS2_ENST00000409808.2_Silent_p.S18S|LIMS2_ENST00000355119.4_Silent_p.S23S			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	23	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCTCGGCGGGGGAGAAGCGGG	0.642000													60	44					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023458	28023458	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28023458G>A	ENST00000375790.5	-	5	1197	c.765C>T	c.(763-765)agC>agT	p.S255S	MKX_ENST00000419761.1_Silent_p.S255S			Q8IYA7	MKX_HUMAN	mohawk homeobox	255					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATTCATTGGAGCTAAAAGATC	0.423000													60	69					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6078197	6078197	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6078197C>T	ENST00000217289.4	-	7	1719	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	FERMT1_ENST00000536936.1_Missense_Mutation_p.E54K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	311	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATCAACATTTCTTCCTCTGTG	0.418000													56	55					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602595	5602595	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5602595C>T	ENST00000345043.2	+	1	489	c.489C>T	c.(487-489)atC>atT	p.I163I	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGGAAGATCGTCACTGCCG	0.512000													97	91					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825537	4825537	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4825537C>T	ENST00000380382.1	-	1	310	c.311G>A	c.(310-312)aGt>aAt	p.S104N	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.S25N|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACTGGAAACTCTCCAGGCC	0.507000													16	20					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70338449	70338449	+	Silent	SNP	T	T	C	rs76137199		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:70338449T>C	ENST00000338508.4	-	29	2432	c.2433A>G	c.(2431-2433)tcA>tcG	p.S811S	SHANK2_ENST00000423696.2_Silent_p.S431S|SHANK2_ENST00000449833.2_Silent_p.S215S|SHANK2_ENST00000409530.1_Silent_p.S221S|SHANK2_ENST00000409161.1_Silent_p.S214S|SHANK2_ENST00000357171.3_Silent_p.S222S|SHANK2_ENST00000449116.2_Silent_p.S212S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	431					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGTTCATGTCTGAGCCCGCCG	0.677000													7	61					0	0	1	0	0
MIR516B2	574485	broad.mit.edu	37	19	54228756	54228756	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54228756C>T	ENST00000385190.1	+	0	61					NR_030207.1																						GAAAGTGCTTCCTTTCAGAGG	0.383000													11	23					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527985	155527985	+	Missense_Mutation	SNP	T	T	G	rs121913090	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155527985T>G	ENST00000404648.3	-	8	1240	c.1001A>C	c.(1000-1002)aAt>aCt	p.N334T	FGG_ENST00000405164.1_Missense_Mutation_p.N342T|FGG_ENST00000336098.3_Missense_Mutation_p.N334T|FGG_ENST00000407946.1_Missense_Mutation_p.N342T	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	334	Fibrinogen C-terminal.		N -> I (in Baltimore-3; impaired polymerization).|N -> K (in Kyoto-1; causes accelerated cleavage by plasmin).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGCATGCCATTATGGGATGT	0.468000													9	85					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31508228	31508228	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31508228C>T	ENST00000417556.2	-	2	712	c.82G>A	c.(82-84)Gag>Aag	p.E28K	DDX39B_ENST00000396172.1_Missense_Mutation_p.E28K|DDX39B_ENST00000458640.1_Missense_Mutation_p.E28K|DDX39B_ENST00000449074.2_Missense_Mutation_p.E28K|DDX39B_ENST00000376177.2_Missense_Mutation_p.E28K|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Silent_p.L23L|DDX39B_ENST00000453105.2_Silent_p.L23L			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	28					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCAGGGGCCTCAGCCCCATCT	0.567000													33	47					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669479	53669479	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53669479G>A	ENST00000600412.1	-	2	184	c.69C>T	c.(67-69)ttC>ttT	p.F23F	ZNF665_ENST00000396424.3_Silent_p.F88F			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACTTCCTGGAAGGACAAGC	0.413000													84	218					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234941	103234941	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103234941T>G	ENST00000428762.1	-	26	3699		c.e26-2		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGACAAATCTGAATAAAAGT	0.443000													67	72					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36853083	36853083	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36853083G>A	ENST00000270001.7	-	3	182	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	ZFP14_ENST00000589280.1_Silent_p.L23L	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GCAGGATCCAGGAATTCCCAT	0.383000													26	33					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155798	151155798	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:151155798G>A	ENST00000282466.3	-	6	6550	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2184	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGGAGAAGGAAATCATGTC	0.438000													102	1					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463628	26463628	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:26463628A>G	ENST00000256737.3	+	2	1062	c.210A>G	c.(208-210)atA>atG	p.I70M	ANO3_ENST00000525139.1_Missense_Mutation_p.I54M|ANO3_ENST00000531646.1_Missense_Mutation_p.I70M|ANO3_ENST00000537978.1_Missense_Mutation_p.I54M	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	70						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCACATCTATAACCTTAATCT	0.448000													30	126					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5041445	5041445	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:5041445C>T	ENST00000574788.1	+	21	3185	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.L319L|USP6_ENST00000250066.6_Silent_p.L319L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	319					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGGTGTGGCCTGTGGGCACG	0.547000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								87	3					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136160	74136160	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74136160G>A	ENST00000322957.6	-	2	671	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	106					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGGGTGGGGCCTGCAGCCC	0.726000													24	1					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669509	95669509	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95669509A>C	ENST00000298912.4	-	9	2290	c.2177T>G	c.(2176-2178)cTc>cGc	p.L726R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	726						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAAATAGAAGAGGTCGTGGGG	0.512000													14	42					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49170215	49170215	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:49170215C>T	ENST00000340334.7	-	19	2362	c.1994G>A	c.(1993-1995)gGg>gAg	p.G665E	FOLH1_ENST00000356696.3_Intron|FOLH1_ENST00000256999.2_Missense_Mutation_p.G680E|FOLH1_ENST00000343844.4_Missense_Mutation_p.G372E|FOLH1_ENST00000533034.1_Intron	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	680					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTGGTAACCCTAATGGATC	0.289000													14	16					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224296	51224296	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:51224296T>G	ENST00000245441.5	-	18	3642	c.3452A>C	c.(3451-3453)gAg>gCg	p.E1151A	NIN_ENST00000324330.9_Missense_Mutation_p.E1151A|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E1151A|NIN_ENST00000530997.2_Missense_Mutation_p.E1151A|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.E1151A	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1151					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTCCCGGACCTCATCATCTTC	0.483000			T	PDGFRB	MPD								26	111					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723677	142723677	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142723677G>A	ENST00000350513.2	-	1	605	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGGACAGTTTGAGCAATTGCC	0.393000													22	96					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124196127	124196127	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124196127A>C	ENST00000360013.3	+	27	4258	c.4131A>C	c.(4129-4131)aaA>aaC	p.K1377N	KALRN_ENST00000460856.1_Missense_Mutation_p.K1368N|KALRN_ENST00000240874.3_Missense_Mutation_p.K1377N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1377	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTACTGTAAAAACAAGCCTG	0.413000													5	76					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204320166	204320166	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:204320166T>C	ENST00000319170.5	-	9	1595	c.1296A>G	c.(1294-1296)aaA>aaG	p.K432K	RAPH1_ENST00000374493.3_Silent_p.K484K|RAPH1_ENST00000418114.1_Silent_p.K432K|RAPH1_ENST00000439222.1_Silent_p.K457K|RAPH1_ENST00000419464.1_Silent_p.K432K|RAPH1_ENST00000423104.1_Silent_p.K459K|RAPH1_ENST00000308091.4_Silent_p.K484K|RAPH1_ENST00000457812.1_Silent_p.K432K|RAPH1_ENST00000374488.2_Silent_p.K457K|RAPH1_ENST00000453034.1_Silent_p.K484K|RAPH1_ENST00000374489.2_Silent_p.K459K	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	432	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCTTTGCTTTTCCTTTGG	0.403000													12	126					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960890	33960890	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33960890G>A	ENST00000361328.3	+	8	3099	c.2946G>A	c.(2944-2946)acG>acA	p.T982T		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	982					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGATTCATACGGGAGAGAAGC	0.473000													31	43					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113440866	113440866	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:113440866A>C	ENST00000392583.2	+	6	1345	c.1138A>C	c.(1138-1140)Aac>Cac	p.N380H	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.N380H	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	380	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTTAAAGAAAACTGCTTCCG	0.443000													95	120					0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087335	117087335	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:117087335A>C	ENST00000259396.8	+	5	521	c.443A>C	c.(442-444)aAg>aCg	p.K148T	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	148					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GCAGCTGACAAGCCAGAGACG	0.617000													8	29					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581490	24581490	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24581490T>G	ENST00000319715.4	+	17	3911	c.3479T>G	c.(3478-3480)tTt>tGt	p.F1160C	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.F1126C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATAAAGATTTTGAGTCTTCT	0.343000													4	58					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050230	84050230	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:84050230G>A	ENST00000299709.3	-	8	1055	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	352					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGACCCACAGGATGGTCAGCG	0.622000													37	5					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232071	71232071	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71232071A>G	ENST00000359042.2	+	3	644	c.450A>G	c.(448-450)agA>agG	p.R150R	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Silent_p.R150R|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Silent_p.R150R|C17orf80_ENST00000268942.8_Silent_p.R150R|C17orf80_ENST00000426147.2_Silent_p.R150R|C17orf80_ENST00000255557.4_Silent_p.R150R	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	150						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTCCTAAAAGAGAACTTGCCA	0.383000													27	39					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36230908	36230908	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36230908T>A	ENST00000251195.5	-	2	140	c.44A>T	c.(43-45)gAc>gTc	p.D15V	CLSPN_ENST00000520551.1_Missense_Mutation_p.D15V|CLSPN_ENST00000373220.3_Missense_Mutation_p.D15V|CLSPN_ENST00000318121.3_Missense_Mutation_p.D15V			Q9HAW4	CLSPN_HUMAN	claspin	15					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACGTTTGGGTCATTGATTTC	0.413000													15	82					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540426	169540426	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169540426C>T	ENST00000340806.6	+	1	717	c.717C>T	c.(715-717)ctC>ctT	p.L239L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	239										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTCGGTGCTCGATTTATCCC	0.577000													26	85					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045674	193045674	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:193045674T>G	ENST00000432079.1	+	3	588	c.20T>G	c.(19-21)cTa>cGa	p.L7R	TROVE2_ENST00000367443.1_Missense_Mutation_p.L282R|TROVE2_ENST00000367445.3_Missense_Mutation_p.L282R|TROVE2_ENST00000416058.2_Missense_Mutation_p.L7R|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.L282R|TROVE2_ENST00000367446.3_Missense_Mutation_p.L282R|TROVE2_ENST00000400968.2_Missense_Mutation_p.L282R|TROVE2_ENST00000367441.1_Missense_Mutation_p.L282R			P10155	RO60_HUMAN	TROVE domain family, member 2	282					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ACTGCATTACTAAGGAATCTA	0.323000													4	71					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115221038	115221038	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:115221038C>T	ENST00000369538.3	-	7	1142	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	AMPD1_ENST00000520113.2_Silent_p.E369E|AMPD1_ENST00000353928.6_Silent_p.E336E	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	336					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGATTCTTCTCTTTGGTGC	0.398000													49	65					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350811	121350811	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121350811G>A	ENST00000314583.3	-	14	1434	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	HCLS1_ENST00000428394.2_Missense_Mutation_p.S411F|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	448	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CGGATCAAAGGAAAGCTCATC	0.502000													174	9					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800331	27800331	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27800331A>G	ENST00000408964.2	+	1	943	c.892A>G	c.(892-894)Aca>Gca	p.T298A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	298										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCAAAGCCAACAAGTCAAGC	0.463000													20	56					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52544883	52544883	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52544883T>G	ENST00000242839.4	-	3	1444	c.1288A>C	c.(1288-1290)Agc>Cgc	p.S430R	ATP7B_ENST00000542656.1_Missense_Mutation_p.S398R|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.S430R|ATP7B_ENST00000448424.2_Missense_Mutation_p.S430R|ATP7B_ENST00000400366.3_Missense_Mutation_p.S319R|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.S430R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	430					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GTAGAACAGCTTTCTAGGATA	0.428000									Wilson disease				4	42					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14960464	14960464	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:14960464A>C	ENST00000287667.7	+	15	1893	c.1722A>C	c.(1720-1722)gaA>gaC	p.E574D		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	574						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGAGGTGGAAGTGCTGGAGG	0.507000													33	97					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4711135	4711135	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4711135A>T	ENST00000263088.6	+	2	199	c.68A>T	c.(67-69)gAg>gTg	p.E23V	PLD2_ENST00000572940.1_Missense_Mutation_p.E23V	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	23					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTCCAGATGGAGTCCGATGAG	0.637000													9	33					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379848	61379848	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61379848A>C	ENST00000544088.1	+	0	340				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TAATTCTCTCAAATCAACCAG	0.428000													13	21					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090560	22090560	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22090560G>A	ENST00000542354.1	+	0	232																											CCAGCAACATGATGGCGGAGC	0.483000													28	95					0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139973505	139973505	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139973505G>A	ENST00000409858.3	+	4	780	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	UAP1L1_ENST00000360271.3_Missense_Mutation_p.V127M|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	250							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGTGGAGTTTGTGCACGTGTA	0.622000													15	46					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872983	15872983	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15872983C>T	ENST00000285670.2	-	7	1013	c.839G>A	c.(838-840)gGa>gAa	p.G280E	SAMSN1_ENST00000400564.1_Missense_Mutation_p.G44E|SAMSN1_ENST00000400566.1_Missense_Mutation_p.G212E	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	212	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTGAAGTTTCCCACTTTATT	0.388000													21	104					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282220	130282220	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130282220G>A	ENST00000358511.6	+	2	404	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G125R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	125	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCCGCAAATGGGAGAGACAA	0.507000													47	3					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21952832	21952832	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21952832A>C	ENST00000290101.4	-	3	171	c.139T>G	c.(139-141)Tta>Gta	p.L47V	RAP1GAP_ENST00000542643.2_5'UTR|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374765.4_5'UTR	NM_001145658.1	NP_001139130.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	0					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GAGGGAACTAAGTTCACTCGT	0.582000													9	143					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290836	50290836	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:50290836A>C	ENST00000338821.5	-	11	1157	c.893T>G	c.(892-894)tTg>tGg	p.L298W	ATP9A_ENST00000311637.5_Missense_Mutation_p.L162W|ATP9A_ENST00000402822.1_Missense_Mutation_p.L177W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	298					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTCACTTCCAAGTCGAACAG	0.552000													9	56					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486156	8486156	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:8486156C>A	ENST00000381196.4	-	25	3204	c.2661G>T	c.(2659-2661)aaG>aaT	p.K887N	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.K887N|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.K874N|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.K887N|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.K865N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	887	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGATGCTCCCTTGTGGATGT	0.463000										TSP Lung(15;0.13)			20	17					8.10497e-08	8.13559e-08	1	1	0
SRGAP3	9901	broad.mit.edu	37	3	9055470	9055470	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9055470G>A	ENST00000383836.3	-	16	2297	c.1870C>T	c.(1870-1872)Ccc>Tcc	p.P624S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P600S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	624	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ACCACGCGGGGAAGGGTGACG	0.547000			T	RAF1	pilocytic astrocytoma								37	17					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526348	176526348	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176526348G>A	ENST00000367662.3	+	2	2054	c.890G>A	c.(889-891)gGa>gAa	p.G297E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G297E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	297					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAACCGGAGGGAGGACAGAAC	0.567000													5	7					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128464	3128464	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3128464A>G	ENST00000380266.3	-	2	1574	c.1253T>C	c.(1252-1254)tTg>tCg	p.L418S	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	418					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TCTAGGAGGCAAAGACGCAGC	0.463000													17	104					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447073	17447073	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:17447073A>T	ENST00000541323.1	+	3	597	c.152A>T	c.(151-153)aAa>aTa	p.K51I	PDGFRL_ENST00000251630.6_Missense_Mutation_p.K51I|PDGFRL_ENST00000398074.3_Missense_Mutation_p.K51I	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	51						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AAAATTCCTAAAATGAAGGAC	0.483000													33	134					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134024257	134024257	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:134024257C>T	ENST00000220616.4	+	36	6414	c.6374C>T	c.(6373-6375)gCt>gTt	p.A2125V	TG_ENST00000542445.1_Missense_Mutation_p.A495V|TG_ENST00000519543.1_Missense_Mutation_p.A258V|TG_ENST00000377869.1_Missense_Mutation_p.A2068V|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2125					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATTTCTCTGCTGTCCGAGAC	0.517000													58	87					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744935	37744935	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37744935C>T	ENST00000539465.1	+	16	3499	c.2906C>T	c.(2905-2907)cCt>cTt	p.P969L	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P969L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	969						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAAGCACTCCTCACTGTTCT	0.507000													87	52					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55136144G>A	ENST00000314706.3	+	1	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000													36	67					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18171783	18171783	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18171783T>G	ENST00000355028.3	+	4	387	c.261T>G	c.(259-261)acT>acG	p.T87T	BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000399782.1_Silent_p.T87T|BCL2L13_ENST00000317582.5_Silent_p.T87T|BCL2L13_ENST00000493680.1_Silent_p.T87T|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000538149.1_Intron	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	87					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ACCGTCACACTTCTCCAGTGT	0.448000													14	68					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137097	40137097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:40137097C>T	ENST00000278198.2	-	2	2709	c.746G>A	c.(745-747)tGg>tAg	p.W249*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.W249*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.W249*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.W249*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	249					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTGTATCATCCACAGTTTTTG	0.438000													34	53					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126129588	126129588	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:126129588T>G	ENST00000373631.3	+	5	893	c.892T>G	c.(892-894)Ttc>Gtc	p.F298V	CRB2_ENST00000359999.3_Missense_Mutation_p.F298V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	298	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCCTTCAGCTTCCGCCATGC	0.692000													6	28					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409368	47409368	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:47409368G>A	ENST00000378688.4	-	3	1151	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	HTR2A_ENST00000542664.1_Silent_p.F340F|HTR2A_ENST00000543956.1_Silent_p.F256F			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	340					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGTTTGTGATGAAGAAAGGGC	0.498000													46	36					0	0	1	0	0
PSMD7	5713	broad.mit.edu	37	16	74336181	74336181	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:74336181A>C	ENST00000219313.4	+	5	569	c.429A>C	c.(427-429)gaA>gaC	p.E143D	PSMD7_ENST00000567958.1_Missense_Mutation_p.E143D|PSMD7_ENST00000540379.1_Missense_Mutation_p.E66D|PSMD7_ENST00000568615.2_Missense_Mutation_p.E143D	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CAGTGGAAGAAGTCCATGATG	0.418000													12	24					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886481	119886481	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:119886481A>G	ENST00000464295.1	-	10	2288	c.1843T>C	c.(1843-1845)Tct>Cct	p.S615P	GPR156_ENST00000315843.3_Missense_Mutation_p.S615P|GPR156_ENST00000461057.1_Missense_Mutation_p.S611P			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	615						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAGGGTGCAGAGCCAGGAAAG	0.627000													6	85					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367040	32367040	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32367040G>A	ENST00000298386.2	+	16	1672	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G510E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	534						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATTCGACCTGGAAAACGGCAG	0.433000													13	12					0	0	1	0	0
ALG1L	200810	broad.mit.edu	37	3	125650488	125650488	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:125650488A>C	ENST00000340333.3	-	4	431	c.268T>G	c.(268-270)Ttc>Gtc	p.F90V		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	90							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						TACCACTTGAAGTTCACGGCA	0.582000													15	60					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128879217	128879217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:128879217G>A	ENST00000371106.3	+	4	465	c.273G>A	c.(271-273)tgG>tgA	p.W91*	XPNPEP2_ENST00000371105.3_Nonsense_Mutation_p.W91*	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	91					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCGTGCGTGGATTACAGGCT	0.493000													35	1					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117075	7117075	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7117075G>A	ENST00000341500.5	-	21	4144	c.4105C>T	c.(4105-4107)Cct>Tct	p.P1369S	INSR_ENST00000302850.5_Missense_Mutation_p.P1381S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1381					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTTAGGAAGGATTGGACCGA	0.552000													53	60					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101092478	101092478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101092478G>A	ENST00000360863.6	-	4	417	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	RGS22_ENST00000523437.1_Nonsense_Mutation_p.Q75*|RGS22_ENST00000523287.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	75					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGAGGTTGCTGGTTTTGTAGA	0.353000													12	36					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197031084	197031084	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197031084G>A	ENST00000367412.1	-	3	324	c.281C>T	c.(280-282)cCt>cTt	p.P94L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	94	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACTCAGGTCAGGCTTAGTGCA	0.323000													6	14					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875717	42875717	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:42875717T>A	ENST00000025301.2	+	8	3010	c.2835T>A	c.(2833-2835)tcT>tcA	p.S945S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	945					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TATCTAAATCTATTATTAAAC	0.393000													13	36					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161629	8161629	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8161629G>A	ENST00000343202.4	-	2	301	c.236C>T	c.(235-237)gCc>gTc	p.A79V	RIC3_ENST00000309737.6_Missense_Mutation_p.A79V|RIC3_ENST00000419822.2_Missense_Mutation_p.A79V|RIC3_ENST00000539720.1_Missense_Mutation_p.A30V|RIC3_ENST00000425599.2_Missense_Mutation_p.A79V|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	79						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TGATCCTTTGGCCTTTGCAAA	0.507000													47	51					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328484	80328484	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:80328484G>A	ENST00000358842.3	-	1	888	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	291					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACACATTTACGACCCGTATTA	0.453000													50	28					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123005611	123005611	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123005611T>C	ENST00000462833.1	-	20	4790	c.3578A>G	c.(3577-3579)aAg>aGg	p.K1193R	ADCY5_ENST00000309879.5_Missense_Mutation_p.K843R|ADCY5_ENST00000491190.1_Missense_Mutation_p.K851R	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1193	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTACTGAGGCTTTCGTGCCCC	0.622000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	59					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884968	13884968	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:13884968G>A	ENST00000327606.3	-	2	730	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	184					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACCAGCATCAGCGGGAACAGC	0.562000													55	36					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555074	44555074	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:44555074T>C	ENST00000330682.2	-	1	1375	c.1140A>G	c.(1138-1140)aaA>aaG	p.K380K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	380	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGGCATTGTCTTTCTCTGTGC	0.572000													18	1099					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96637041	96637041	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:96637041C>T	ENST00000518156.2	+	2	958	c.528C>T	c.(526-528)agC>agT	p.S176S	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Silent_p.S48S|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Silent_p.S148S			P56179	DLX6_HUMAN	distal-less homeobox 6	58					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TTTATTCCAGCCTGCAGCTCC	0.468000													14	17					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168864307	168864307	+	Translation_Start_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:168864307C>T	ENST00000468789.1	-	0	156				MECOM_ENST00000464456.1_Intron|MECOM_ENST00000494292.1_Intron	NM_001105078.3	NP_001098548.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus								sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCAGACCGCACCGTTTCGCAG	0.637000													21	138					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535068	88535068	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88535068A>G	ENST00000399271.1	+	5	1374	c.1254A>G	c.(1252-1254)ggA>ggG	p.G418G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G418G	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	418					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGACACAAGGAGAGGTTGTCA	0.413000													12	27					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140850222	140850222	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140850222C>T	ENST00000371372.1	+	8	1288	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.I381I|CACNA1B_ENST00000371355.4_Silent_p.I381I|CACNA1B_ENST00000371357.1_Silent_p.I381I|CACNA1B_ENST00000371363.1_Silent_p.I381I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	381	Binding to the beta subunit (By similarity).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGCAGCAGATCGAGCGAGAGC	0.637000													6	8					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57043156	57043156	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:57043156T>C	ENST00000308249.2	+	3	814	c.685T>C	c.(685-687)Tat>Cat	p.Y229H		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	238					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACCCCAGCTTTATTATGAGAC	0.463000													9	146					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738685	12738685	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12738685C>T	ENST00000343325.4	+	4	504	c.342C>T	c.(340-342)tcC>tcT	p.S114S	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.S82S|ZNF791_ENST00000540038.1_Silent_p.S5S|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTCTCTCATCCCTTACTAGAC	0.423000													75	100					0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80211013	80211013	+	Missense_Mutation	SNP	G	G	C	rs145619785	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:80211013G>C	ENST00000314028.6	-	4	793	c.444C>G	c.(442-444)atC>atG	p.I148M	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000392334.2_Missense_Mutation_p.I148M|CSNK1D_ENST00000398519.5_Missense_Mutation_p.I148M	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	148	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GCCCGAAGTCGATGATGTACA	0.562000													83	58					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451857	29451857	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:29451857C>T	ENST00000389048.3	-	16	3614	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	903	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCAGGAATGTCCTCCGGTGGC	0.622000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	30					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017531	200017531	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200017531C>T	ENST00000367362.3	+	5	941	c.695C>T	c.(694-696)cCt>cTt	p.P232L	NR5A2_ENST00000544748.1_Missense_Mutation_p.P160L|NR5A2_ENST00000236914.3_Missense_Mutation_p.P186L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	232					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GCCTTGCCTCCTACAGACTAT	0.507000													63	89					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404369	197404369	+	Missense_Mutation	SNP	C	C	T	rs149390998		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197404369C>T	ENST00000367397.1	+	5	2377	c.1519C>T	c.(1519-1521)Ctc>Ttc	p.L507F	CRB1_ENST00000535699.1_Missense_Mutation_p.L1102F|CRB1_ENST00000367400.3_Missense_Mutation_p.L1126F|CRB1_ENST00000544212.1_Missense_Mutation_p.L607F|CRB1_ENST00000367399.2_Missense_Mutation_p.L1014F|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1126	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.L1126I(1)|p.L1126F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAGCAATTTCTCAAAATCTC	0.398000													30	43					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241537805	241537805	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241537805C>T	ENST00000391984.2	+	11	2176	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CAPN10_ENST00000354082.4_Silent_p.F505F|CAPN10_ENST00000404753.3_Intron|CAPN10_ENST00000352879.4_Silent_p.F126F|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	660					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGGCCAGTTCCTCCAAGAGG	0.622000													41	22					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667558	65667558	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:65667558A>C	ENST00000327987.4	-	2	537	c.286T>G	c.(286-288)Ttg>Gtg	p.L96V		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	96	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATCATCAAGGACCCATTG	0.612000													9	16					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426537	137426537	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137426537G>A	ENST00000506684.1	+	5	1121	c.885G>A	c.(883-885)caG>caA	p.Q295Q	WNT8A_ENST00000398754.1_Silent_p.Q277Q			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	277					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTGCCTACAGAACAGCCACA	0.547000													26	28					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770684	51770684	+	Silent	SNP	G	G	A	rs139583927		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51770684G>A	ENST00000316401.7	+	5	849	c.468G>A	c.(466-468)aaG>aaA	p.K156K	SIGLECL1_ENST00000597824.1_Silent_p.K62K|SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1			SIGLEC family like 1																		GAGCAAAAAAGAGCTCTAAAG	0.473000													78	86					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805557	35805557	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35805557A>C	ENST00000342694.2	+	13	2192	c.1937A>C	c.(1936-1938)aAg>aCg	p.K646T		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	646	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGGAGTCTCAAGTCCTCCAAC	0.488000													18	56					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17295733	17295733	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17295733C>T	ENST00000595618.1	+	17	2585	c.2433C>T	c.(2431-2433)acC>acT	p.T811T	MYO9B_ENST00000397274.2_Silent_p.T811T|MYO9B_ENST00000594824.1_Silent_p.T811T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	811	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACGACCGCACCACCAAGTCCC	0.587000													53	56					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822733	54822733	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54822733G>A	ENST00000301219.3	-	5	782	c.663C>T	c.(661-663)atC>atT	p.I221I	LILRA5_ENST00000446712.3_Silent_p.I209I|LILRA5_ENST00000346508.3_Silent_p.I209I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.I221I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	221	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATACCTGCAGGATATGCCTGC	0.582000													49	89					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78700963	78700963	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:78700963G>A	ENST00000436010.2	-	17	3611	c.2614C>T	c.(2614-2616)Ctc>Ttc	p.L872F	ROBO1_ENST00000464233.1_Missense_Mutation_p.L911F|ROBO1_ENST00000467549.1_Missense_Mutation_p.L875F|ROBO1_ENST00000495273.1_Missense_Mutation_p.L875F			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	911					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)		AAGACCATGAGGATGATCCAA	0.502000													47	12					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746078	15746078	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15746078G>A	ENST00000285667.3	-	5	1343	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	HSPA13_ENST00000544452.1_Missense_Mutation_p.P218S	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	426						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GATGTGTTGGGATCTTTTCCA	0.493000													36	44					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462821	21462821	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:21462821C>T	ENST00000281523.2	-	8	1591	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	358						nucleus	nucleic acid binding|zinc ion binding	p.R358Q(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGGAGCAGTTCGAAGACTGAA	0.587000													9	5					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28056743	28056743	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28056743A>C	ENST00000377325.1	+	4	1509	c.953A>C	c.(952-954)aAa>aCa	p.K318T		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	318					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGGAGAAAAAAATCACCAA	0.353000													10	32					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874814	80874814	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:80874814C>T	ENST00000466387.1	+	22	3259	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V	CTNNA2_ENST00000361291.4_Silent_p.V879V|CTNNA2_ENST00000343114.3_Silent_p.V524V|CTNNA2_ENST00000402739.4_Silent_p.V893V|CTNNA2_ENST00000496558.1_Silent_p.V845V|CTNNA2_ENST00000540488.1_Silent_p.V800V|CTNNA2_ENST00000541047.1_Silent_p.V845V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	893					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACCAGAAGGTCTATGGGACAG	0.483000													47	107					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402774	90402774	+	Silent	SNP	G	G	A	rs115049681	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:90402774G>A	ENST00000369393.3	-	63	10090	c.9975C>T	c.(9973-9975)tcC>tcT	p.S3325S	MDN1_ENST00000428876.1_Silent_p.S3325S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3325					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGAACCAGGGACTCGTAGG	0.567000													22	3					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123182166	123182166	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123182166G>A	ENST00000349780.4	-	27	4256	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L	CDK5RAP2_ENST00000359309.3_Silent_p.L1318L|CDK5RAP2_ENST00000360190.4_Silent_p.L1359L|CDK5RAP2_ENST00000360822.3_Silent_p.L1327L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1359					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATAATCAGAGAGCGCATGAG	0.408000													29	32					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60088517	60088517	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:60088517G>A	ENST00000397786.2	-	9	1437	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	454					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTGTGCTTAGGAAGTATTTG	0.418000													5	21					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628560	205628560	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205628560G>A	ENST00000367145.3	-	5	1759	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	488					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGTCCAGGCAGATGCCCCGGC	0.657000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	29					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535306	169535306	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169535306T>G	ENST00000306268.6	+	2	889	c.828T>G	c.(826-828)ccT>ccG	p.P276P	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	276					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGCGCCCCTTGCCTTAACA	0.647000									Pendred syndrome				13	28					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749093	25749093	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:25749093C>T	ENST00000586223.1	+	0	994					NR_033892.1																						CCAAAGATTTCCAGGATCCTC	0.532000													8	0					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48501948	48501948	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48501948C>T	ENST00000340802.6	+	3	400	c.176C>T	c.(175-177)aCc>aTc	p.T59I		NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	0					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GATCCAGACACCGTGGGAAGC	0.438000													58	217					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003530	57003530	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57003530G>A	ENST00000606794.1	-	1	1145	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	317						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGGCCTGGCGGAAGCGGGGG	0.602000													19	24					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784312	90784312	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:90784312C>T	ENST00000558017.1	+	4	592	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P58S	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	58					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCCACAATCTCCCTTTGATGC	0.557000													89	47					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38258410	38258410	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38258410C>T	ENST00000379957.4	+	6	950	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	LETM2_ENST00000523983.2_Missense_Mutation_p.R228C|LETM2_ENST00000527710.1_Missense_Mutation_p.R61C|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000297720.5_Missense_Mutation_p.R180C|LETM2_ENST00000524874.1_Missense_Mutation_p.R227C	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	275	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGAGATAGTTCGCTTCTCCAA	0.463000													64	87					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44525647	44525647	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44525647A>C	ENST00000372484.3	+	12	1468	c.1186A>C	c.(1186-1188)Aac>Cac	p.N396H	CTSA_ENST00000354880.5_Missense_Mutation_p.N379H|CTSA_ENST00000191018.5_Missense_Mutation_p.N378H|CTSA_ENST00000372459.2_Missense_Mutation_p.N378H	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	378					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCGAAGCATGAACTCCCAGTA	0.567000													29	114					0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172409985	172409985	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:172409985T>G	ENST00000321348.4	+	3	730	c.532T>G	c.(532-534)Ttg>Gtg	p.L178V	CYBRD1_ENST00000375252.3_Missense_Mutation_p.I108S|CYBRD1_ENST00000409484.1_Missense_Mutation_p.L120V	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	178	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						ACTTATGGGATTGACAGAGAA	0.378000													6	26					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127951860	127951860	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127951860A>T	ENST00000451402.1	-	1	358	c.138T>A	c.(136-138)ctT>ctA	p.L46L	PPP6C_ENST00000373547.4_Intron|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000415905.1_Intron	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	25					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GTCCTGGAGAAAGGAAgggcc	0.706000													4	11					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720807	135720807	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:135720807T>G	ENST00000264977.3	+	2	1084	c.467T>G	c.(466-468)gTt>gGt	p.V156G	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	156					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGAGGTCAGTTGATTTGGAC	0.388000													17	61					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123907603	123907603	+	Missense_Mutation	SNP	A	A	C	rs149157218		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123907603A>C	ENST00000373855.1	+	22	3510	c.3250A>C	c.(3250-3252)Atg>Ctg	p.M1084L	CNTRL_ENST00000238341.5_Missense_Mutation_p.M1084L|CNTRL_ENST00000373850.1_Missense_Mutation_p.M532L|CNTRL_ENST00000373847.1_Missense_Mutation_p.M532L			Q7Z7A1	CNTRL_HUMAN	centriolin	1084					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAATGAGACAATGGAACGACA	0.403000													15	66					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294104	219294104	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219294104C>T	ENST00000248444.5	+	7	752	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.L222L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	222	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCCCGAAGCTGATGGAGGT	0.632000													50	37					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42286793	42286793	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42286793T>G	ENST00000302904.4	-	17	2324	c.1832A>C	c.(1831-1833)cAg>cCg	p.Q611P	UBTF_ENST00000527034.1_Missense_Mutation_p.Q574P|UBTF_ENST00000436088.1_Missense_Mutation_p.Q611P|UBTF_ENST00000533177.1_Missense_Mutation_p.Q574P|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.Q574P|UBTF_ENST00000343638.5_Missense_Mutation_p.Q574P|UBTF_ENST00000529383.1_Missense_Mutation_p.Q611P|UBTF_ENST00000526094.1_Missense_Mutation_p.Q574P			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	611					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTGCTCCTTCTGGCTCTGGGA	0.597000													4	39					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876722	27876722	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27876722G>A	ENST00000374011.2	-	6	2873	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	AHDC1_ENST00000247087.5_Silent_p.P635P|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	635							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCCAGCAGCGGGGCGGTGAGC	0.677000													104	86					0	0	1	0	0
SPR	6697	broad.mit.edu	37	2	73115659	73115659	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:73115659A>C	ENST00000234454.5	+	2	594	c.521A>C	c.(520-522)aAg>aCg	p.K174T	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	174					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGTGCAGGAAAGGCTGCTCGT	0.587000											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	57					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553512	19553512	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:19553512C>T	ENST00000409832.3	+	1	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	32										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGGTGCA	0.587000													61	415					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202291	140202291	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140202291G>A	ENST00000529859.1	+	1	931	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.D311N|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D311N|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTATGAAGACTATAACTC	0.308000													13	12					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121416810	121416810	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:121416810A>G	ENST00000257555.6	+	1	465	c.239A>G	c.(238-240)gAc>gGc	p.D80G	HNF1A_ENST00000541395.1_Missense_Mutation_p.D80G|HNF1A_ENST00000544413.1_Missense_Mutation_p.D80G|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000400024.2_Missense_Mutation_p.D80G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Missense_Mutation_p.D80G|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A-AS1_ENST00000535301.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	80	Asp/Glu-rich (acidic; potential involvement with transcription).				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGGGGAAGACTTCACGCCA	0.667000									Hepatic Adenoma, Familial Clustering of				5	5					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965357	88965357	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:88965357G>A	ENST00000333190.4	+	4	3670	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1021						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGCAGACACTGATTGTGATAA	0.348000										HNSCC(36;0.09)			13	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610943	179610943	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179610943G>A	ENST00000360870.5	-	46	16406	c.16184C>T	c.(16183-16185)tCa>tTa	p.S5395L	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8903	Ig-like 34.						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)			TACAGCATCTGAATTTTCTGG	0.338000													24	11					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168927	117168927	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:117168927G>A	ENST00000362057.3	-	9	2112	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	DFNB31_ENST00000374059.3_Silent_p.S297S|DFNB31_ENST00000265134.6_Silent_p.S265S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	648	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAGATGGGGGAAGAGGGCA	0.682000													31	60					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573104	53573104	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53573104T>C	ENST00000601421.1	-	3	1451	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	ZNF160_ENST00000418871.1_Missense_Mutation_p.Q228R|ZNF160_ENST00000429604.1_Missense_Mutation_p.Q228R|ZNF160_ENST00000599056.1_Missense_Mutation_p.Q228R			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	228					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CCTGTGGGTTTGGACACTAGA	0.353000													59	149					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30699538	30699538	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30699538G>A	ENST00000256246.2	-	1	7070	c.6996C>T	c.(6994-6996)tcC>tcT	p.S2332S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2332										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTACAACTGGAAACAGTAG	0.323000													19	30					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76415946	76415946	+	Silent	SNP	G	G	A	rs149629426	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:76415946G>A	ENST00000357063.3	+	25	5274	c.4014G>A	c.(4012-4014)ccG>ccA	p.P1338P	LMO7_ENST00000321797.8_Silent_p.P1053P|LMO7_ENST00000377534.3_Silent_p.P1338P|LMO7_ENST00000341547.4_Silent_p.P1004P|LMO7_ENST00000526202.1_Silent_p.P930P|LMO7_ENST00000465261.2_Silent_p.P1053P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1338						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAAGAAGCCGCAGGATCAGC	0.522000													20	38					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053843	133053843	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133053843G>A	ENST00000262283.5	-	8	960	c.861C>T	c.(859-861)ccC>ccT	p.P287P	OC90_ENST00000254627.3_Silent_p.P91P|OC90_ENST00000603859.1_Silent_p.P91P|OC90_ENST00000443356.2_Silent_p.P91P			Q02509	OC90_HUMAN	otoconin 90	91					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAAGTCTCGGGGGCAGAGAC	0.537000													25	12					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476909	120476909	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:120476909G>A	ENST00000355622.6	+	3	2604	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E795K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	835					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAATTGGCAGGAAGCAACATC	0.468000													60	36					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675732	167675732	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:167675732G>A	ENST00000357154.3	-	9	1004	c.867C>T	c.(865-867)ttC>ttT	p.F289F	SPOCK3_ENST00000511531.1_Silent_p.F289F|SPOCK3_ENST00000357545.4_Silent_p.F286F|SPOCK3_ENST00000512681.1_Silent_p.F191F|SPOCK3_ENST00000511269.1_Silent_p.F286F|SPOCK3_ENST00000534949.1_Silent_p.F193F|SPOCK3_ENST00000506886.1_Silent_p.F289F|SPOCK3_ENST00000502330.1_Silent_p.F289F|SPOCK3_ENST00000541354.1_Silent_p.F169F|SPOCK3_ENST00000421836.2_Silent_p.F238F|SPOCK3_ENST00000504953.1_Silent_p.F286F|SPOCK3_ENST00000510741.1_Silent_p.F246F|SPOCK3_ENST00000535728.1_Silent_p.F157F|SPOCK3_ENST00000512648.1_Silent_p.F286F|SPOCK3_ENST00000541637.1_Silent_p.F191F|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	289					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACAAGAATTGAAGAATGCCT	0.398000													22	61					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24498660	24498660	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24498660T>C	ENST00000355123.4	-	18	2446	c.2003A>G	c.(2002-2004)aAa>aGa	p.K668R	ITSN2_ENST00000361999.3_Missense_Mutation_p.K641R|ITSN2_ENST00000406921.3_Missense_Mutation_p.K668R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	668					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTCACGTTTGATCTTATA	0.333000													18	11					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189118	98189118	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:98189118G>A	ENST00000332650.5	+	1	795	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAAAGAGGGAAGGGCCAAA	0.343000													15	21					0	0	1	0	0
MANBAL	63905	broad.mit.edu	37	20	35929789	35929789	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35929789C>T	ENST00000373605.3	+	3	935	c.123C>T	c.(121-123)atC>atT	p.I41I	MANBAL_ENST00000397150.1_Silent_p.I41I|MANBAL_ENST00000397156.3_Silent_p.I41I|MANBAL_ENST00000373606.3_Silent_p.I41I|MANBAL_ENST00000397152.3_Silent_p.I41I|MANBAL_ENST00000397151.1_Silent_p.I41I			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	41						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				TGGCCATCATCGTACCCATTC	0.592000													68	59					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390587	48390587	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:48390587C>T	ENST00000224600.4	-	1	404	c.291G>A	c.(289-291)gaG>gaA	p.E97E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	97	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGGGGGAGGCTCGGGGGTGC	0.632000													39	6					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36124912	36124912	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36124912G>A	ENST00000249044.2	+	4	1269	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	423					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CAGCAAGAAAGGGGAGACAGG	0.617000													38	46					0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73715030	73715030	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73715030G>A	ENST00000314032.4	-	6	1218	c.666C>T	c.(664-666)gtC>gtT	p.V222V	UCP3_ENST00000348534.4_Silent_p.V120V|UCP3_ENST00000426995.2_Silent_p.V222V	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	222					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CAAAGGCAGAGACAAAGTGGC	0.537000													13	26					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258081	8258081	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:8258081G>A	ENST00000402384.3	-	6	699	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ICA1_ENST00000396675.3_Missense_Mutation_p.R145W|ICA1_ENST00000407906.1_Missense_Mutation_p.R145W|ICA1_ENST00000401396.1_Missense_Mutation_p.R133W|ICA1_ENST00000406470.2_Missense_Mutation_p.R145W|ICA1_ENST00000422063.2_Missense_Mutation_p.R145W|ICA1_ENST00000265577.7_Missense_Mutation_p.R144W|ICA1_ENST00000476942.1_5'UTR			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	145	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GCCCGATGCCGAAAAGTCTCC	0.483000													39	52					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382455	41382455	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41382455A>C	ENST00000377801.3	-	2	359	c.285T>G	c.(283-285)ttT>ttG	p.F95L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F95L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	95	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCGAAGATCAAAATAACGAA	0.448000													5	94					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523743	95523743	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95523743G>A	ENST00000297591.5	-	13	3135	c.3060C>T	c.(3058-3060)ctC>ctT	p.L1020L	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Silent_p.L1020L|KIAA1429_ENST00000421249.2_Silent_p.L1020L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1020					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACCTCTCAGGAGTTCCGTTA	0.473000													43	35					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013283	49013283	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49013283A>T	ENST00000600059.1	-	3	585	c.358T>A	c.(358-360)Tca>Aca	p.S120T	LMTK3_ENST00000270238.3_Missense_Mutation_p.S149T					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCAGTACCTGAGTGTGAAGGC	0.622000													8	37					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9613338	9613338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:9613338C>T	ENST00000570827.2	+	13	2218	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	USP43_ENST00000570475.1_Nonsense_Mutation_p.R688*|USP43_ENST00000285199.6_Nonsense_Mutation_p.R693*			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	693					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGAACCGCTTCGAGAAGATGA	0.542000													52	6					0	0	1	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63955855	63955855	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:63955855C>T	ENST00000371092.3	-	4	260	c.200G>A	c.(199-201)aGt>aAt	p.S67N	ITGB3BP_ENST00000271002.10_Missense_Mutation_p.S28N|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S28N	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	28					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						AGTTATAACACTTTTCTTCCT	0.303000													14	17					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40581929	40581929	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:40581929T>G	ENST00000342449.3	-	36	4267	c.4189A>C	c.(4189-4191)Aga>Cga	p.R1397R	BRWD1_ENST00000333229.2_Silent_p.R1397R|BRWD1_ENST00000380800.3_Silent_p.R1397R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1397	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCTTTGATCTTTTGTTTGGT	0.338000													6	30					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839875	71839875	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:71839875C>T	ENST00000258104.3	+	39	4549	c.4272C>T	c.(4270-4272)tcC>tcT	p.S1424S	DYSF_ENST00000409582.3_Silent_p.S1441S|DYSF_ENST00000409762.1_Silent_p.S1441S|DYSF_ENST00000409651.1_Silent_p.S1456S|DYSF_ENST00000394120.2_Silent_p.S1425S|DYSF_ENST00000409366.1_Silent_p.S1425S|DYSF_ENST00000410041.1_Silent_p.S1442S|DYSF_ENST00000429174.2_Silent_p.S1424S|DYSF_ENST00000409744.1_Silent_p.S1411S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.S1455S|DYSF_ENST00000410020.3_Silent_p.S1442S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1424						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCATCCGCTCCCTGGAGAGCT	0.652000													9	28					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110492318	110492318	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110492318G>A	ENST00000378402.5	+	55	9381	c.9277G>A	c.(9277-9279)Gaa>Aaa	p.E3093K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3093	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAGCTGCAGAATCTTCTTA	0.363000										HNSCC(38;0.096)			4	9					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187532836	187532836	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187532836G>A	ENST00000441802.2	-	14	9766	c.9557C>T	c.(9556-9558)cCt>cTt	p.P3186L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3186	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGTCCAAAGGTTTTTCTAA	0.423000										HNSCC(5;0.00058)			4	9					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137537132	137537132	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137537132G>A	ENST00000394886.2	-	5	451	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTTTTTCCAGGGGGCCTAGG	0.383000													11	17					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1468579	1468579	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1468579A>C	ENST00000535453.1	+	14	6992	c.5279A>C	c.(5278-5280)aAg>aCg	p.K1760T	APC2_ENST00000238483.4_Missense_Mutation_p.K1486T|APC2_ENST00000233607.2_Missense_Mutation_p.K1760T|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1760					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCAGTCAAGACCAGCGGG	0.682000													5	13					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87774494	87774494	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:87774494G>A	ENST00000398204.4	+	16	1698	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	ADAM22_ENST00000398201.4_Missense_Mutation_p.D459N|ADAM22_ENST00000265727.7_Missense_Mutation_p.D459N|ADAM22_ENST00000398209.3_Missense_Mutation_p.D459N|ADAM22_ENST00000315984.7_Missense_Mutation_p.D459N	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	459	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGGAGTGTGATTGTGGAAC	0.418000													19	26					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558180	159558180	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159558180G>A	ENST00000255040.2	+	2	451	c.354G>A	c.(352-354)gaG>gaA	p.E118E		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	118	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGAGCTGGGAGTCCTCATCAG	0.448000													31	33					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45213358	45213358	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45213358C>T	ENST00000372217.1	+	3	491	c.140C>T	c.(139-141)cCt>cTt	p.P47L	KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000372224.4_Missense_Mutation_p.P101L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372218.4_Missense_Mutation_p.P101L			Q99661	KIF2C_HUMAN	kinesin family member 2C	101	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCCAAAATTCCTGCTCCAAAA	0.393000													8	17					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111970219	111970219	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111970219A>C	ENST00000361822.3	+	7	878	c.749A>C	c.(748-750)aAg>aCg	p.K250T	AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000450657.1_Missense_Mutation_p.K250T	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	250						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAGCATCGTAAGATTAATCCT	0.328000													9	23					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36036035	36036035	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:36036035G>A	ENST00000282507.3	-	7	1438	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	UGT3A2_ENST00000513300.1_Missense_Mutation_p.S412F|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S144F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	446						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCGGGTGGGAGCGCAGGAT	0.587000													30	18					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184147	197184147	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:197184147G>A	ENST00000260983.2	-	9	1649	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	HECW2_ENST00000409111.1_Silent_p.I133I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	489					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCTAAACATGATCAGGCCTC	0.502000													10	18					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21039985	21039985	+	Missense_Mutation	SNP	G	G	A	rs114164909	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21039985G>A	ENST00000247986.2	-	3	752	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	KIF17_ENST00000400463.3_Missense_Mutation_p.R148W|KIF17_ENST00000375044.1_Missense_Mutation_p.R48W			Q9P2E2	KIF17_HUMAN	kinesin family member 17	148	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGGAGGTCCCGGACATCTTCA	0.582000													17	26					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476866	20476866	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20476866C>T	ENST00000573854.1	+	3	319	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ACSM2A_ENST00000575690.1_Silent_p.L69L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.L69L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.L69L|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000219054.6_Silent_p.L69L	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	69					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAGCCCAGCCCTGTGGTGGGT	0.542000													14	11					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391070	391070	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:391070A>C	ENST00000256509.2	+	10	1519	c.877A>C	c.(877-879)Att>Ctt	p.I293L	CHL1_ENST00000397491.2_Missense_Mutation_p.I277L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	277	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGAACAAAATTGGTGGTGA	0.348000													5	38					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3446912	3446912	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3446912C>T	ENST00000301365.4	-	5	453	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TRPV3_ENST00000572519.1_Missense_Mutation_p.A108T|TRPV3_ENST00000576742.1_Missense_Mutation_p.A108T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	108						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCTTCCTTGGCCAGCTGTGCA	0.557000													51	75					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8341100	8341100	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:8341100C>T	ENST00000381196.4	-	38	5659	c.5116G>A	c.(5116-5118)Gat>Aat	p.D1706N	PTPRD_ENST00000486161.1_Missense_Mutation_p.D1299N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1706N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1300N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1693N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1299N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D1296N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1706N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D1299N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D1296N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1684N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1706	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTATCCATCAATAAAACTG	0.383000										TSP Lung(15;0.13)			40	65					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22850980	22850980	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22850980A>C	ENST00000283645.4	+	11	1372	c.1242A>C	c.(1240-1242)aaA>aaC	p.K414N	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.K414N	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	414					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCTGCACAAAGTGTTTAGTA	0.433000													19	188					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579458	58579458	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58579458C>A	ENST00000506786.1	+	5	2034	c.1480C>A	c.(1480-1482)Ccc>Acc	p.P494T	ZNF135_ENST00000511556.1_Missense_Mutation_p.P548T|ZNF135_ENST00000401053.4_Missense_Mutation_p.P560T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.P536T|ZNF135_ENST00000439855.2_Missense_Mutation_p.P536T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	548					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCTTGCTCCCCTCATTCA	0.537000													38	80					2.24722e-20	2.26748e-20	1	1	0
MYH2	4620	broad.mit.edu	37	17	10442573	10442573	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10442573G>A	ENST00000245503.5	-	14	1749	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.P455P|MYH2_ENST00000532183.1_Silent_p.P455P	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	455	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTACTGCCTGGGCTGCTTGG	0.502000													85	87					0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1826214	1826214	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1826214A>C	ENST00000307394.7	+	8	1310	c.1310A>C	c.(1309-1311)gAt>gCt	p.D437A	EME2_ENST00000568449.1_Missense_Mutation_p.D372A			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	372					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GCCAACCCTGATCTCCTGCTG	0.692000								Direct reversal of damage;Homologous recombination					21	87					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126073211	126073211	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:126073211T>G	ENST00000368364.3	+	3	418	c.221T>G	c.(220-222)cTt>cGt	p.L74R	HEY2_ENST00000368365.1_Missense_Mutation_p.L28R	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	74	Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTGAGAAGACTTGTGCCAACT	0.418000													21	33					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92900560	92900560	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92900560T>G	ENST00000544910.1	+	11	818	c.598T>G	c.(598-600)Ttg>Gtg	p.L200V	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.L230V|CCDC132_ENST00000251739.5_Missense_Mutation_p.L230V|CCDC132_ENST00000541136.1_Missense_Mutation_p.L41V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	230										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)			GCAAGATACTTTGGAACAGAT	0.289000													11	98					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4719332	4719332	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4719332T>A	ENST00000540757.2	+	11	1187	c.1027T>A	c.(1027-1029)Ttt>Att	p.F343I	DYRK4_ENST00000010132.5_Missense_Mutation_p.F343I|DYRK4_ENST00000543431.1_Missense_Mutation_p.F343I|DYRK4_ENST00000545342.1_5'UTR	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	343	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTCCAAAGGTTTTCCTAAAAA	0.418000													18	17					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595299	12595299	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:12595299G>A	ENST00000378847.3	+	2	505	c.168G>A	c.(166-168)aaG>aaA	p.K56K	CAMK1D_ENST00000378845.1_Silent_p.K56K|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	56	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTATCCCTAAGAAGGCGCTGA	0.507000													52	30					0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35605820	35605820	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35605820C>T	ENST00000336395.5	+	1	454	c.204C>T	c.(202-204)ttC>ttT	p.F68F	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	68	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCTTCTTCTCTGAGGTCT	0.677000													8	10					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21338406	21338406	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21338406C>T	ENST00000313654.9	+	7	1235	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R332C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	332	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACGTGTGATCGCTGCTGCAC	0.597000													23	24					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122942419	122942419	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122942419C>T	ENST00000309934.4	+	2	1092	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Silent_p.L66L	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	66	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TATTAGCTCTCTGGGAGTGAG	0.348000													41	78					0	0	1	0	0
CTSV	1515	broad.mit.edu	37	9	99800258	99800258	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:99800258T>C	ENST00000259470.5	-	2	317	c.68A>G	c.(67-69)cAa>cGa	p.Q23R	CTSV_ENST00000538255.1_Missense_Mutation_p.Q23R|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2			cathepsin V																		ATCCAAATTTTGGTCAAATTT	0.438000													6	67					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623343	21623343	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21623343G>A	ENST00000304418.3	-	1	879	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCCCTGGGCCGAGCTCATTTT	0.488000													8	30					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795883	100795883	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100795883G>A	ENST00000361529.3	+	6	906	c.828G>A	c.(826-828)aaG>aaA	p.K276K	SLC25A47_ENST00000557052.1_Silent_p.K130K	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	276					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCCTTTTCAAGGGGCTGGTAC	0.637000													80	83					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145635493	145635493	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:145635493C>T	ENST00000296575.3	+	9	2195	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	514						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTTTGGAGATCGTAATGGGTA	0.388000													18	14					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655510	38655510	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38655510T>G	ENST00000222345.6	+	15	4681	c.4172T>G	c.(4171-4173)cTg>cGg	p.L1391R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1391					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCACGGGACTGGCGGGGGGC	0.652000													12	32					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103322598	103322598	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103322598C>T	ENST00000428762.1	-	11	1413	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	RELN_ENST00000424685.2_Silent_p.E418E|RELN_ENST00000343529.5_Silent_p.E418E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	418					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGACCATTGCTCTTGAATAT	0.418000													45	52					0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67352211	67352211	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67352211A>C	ENST00000398606.3	+	4	449	c.200A>C	c.(199-201)aAt>aCt	p.N67T	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.N67T	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	67	GST N-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TACCAGTCCAATACCATCCTG	0.622000													9	193					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2838129	2838129	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:2838129T>G	ENST00000380739.5	-	4	613	c.411A>C	c.(409-411)aaA>aaC	p.K137N	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	137				K -> R (in Ref. 4; AAP35574).	regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CTGTCTGTCCTTTGACCCACT	0.493000													70	78					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4247782	4247782	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4247782C>T	ENST00000404826.2	+	37	5405	c.5266C>T	c.(5266-5268)Ctc>Ttc	p.L1756F	SDK1_ENST00000389531.3_Missense_Mutation_p.L1736F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1756	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AATGAAGGTCCTCTTCCTCCC	0.557000													20	55					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908510	24908510	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24908510A>G	ENST00000396432.2	-	9	2800	c.2314T>C	c.(2314-2316)Tgg>Cgg	p.W772R	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W559R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	771					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGGGCAGCCAGCAGGTAGTG	0.527000													7	121					0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27535108	27535108	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27535108G>A	ENST00000357186.6	-	4	1443	c.214C>T	c.(214-216)Cct>Tct	p.P72S	MPV17_ENST00000402722.1_Intron|MPV17_ENST00000380044.1_Missense_Mutation_p.P128S|MPV17_ENST00000402310.1_Missense_Mutation_p.P128S|MPV17_ENST00000405983.1_Missense_Mutation_p.P143S|MPV17_ENST00000403262.2_Missense_Mutation_p.P128S|MPV17_ENST00000233545.2_Missense_Mutation_p.P128S|MPV17_ENST00000405076.1_Missense_Mutation_p.P65S			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	128					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCATCAGGATAATCCTGG	0.483000													17	28					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34033461	34033461	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:34033461T>G	ENST00000382065.3	-	3	1224	c.518A>C	c.(517-519)cAg>cCg	p.Q173P	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.Q100P	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	100	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GGGGCCATGCTGCCCCCGCTC	0.577000													15	103					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196547275	196547275	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196547275A>G	ENST00000327134.3	+	13	1509	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	396	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATCACCCCTGAGCAGAGCAAA	0.478000													7	112					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611795	47611795	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47611795A>G	ENST00000371891.3	+	11	1365	c.1334A>G	c.(1333-1335)cAc>cGc	p.H445R	CYP4A22_ENST00000371890.3_Missense_Mutation_p.H347R|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.H445R	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	445						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAACACAGCCACGCTTTCCTG	0.517000													77	444					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247862	43247862	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43247862G>A	ENST00000255226.6	+	14	2598	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	SLC14A2_ENST00000586448.1_Silent_p.V594V|SLC14A2_ENST00000589658.1_Silent_p.V71V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	594						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATGTTTGTGAACAACCCCC	0.557000													77	7					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42893192	42893192	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:42893192G>A	ENST00000342560.5	+	5	841	c.753G>A	c.(751-753)gaG>gaA	p.E251E	GDAP1L1_ENST00000537864.1_Silent_p.E59E	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	251	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAAGCTGGAGAACGAGGGTG	0.597000													20	16					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154040	5154040	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:5154040C>T	ENST00000252321.3	+	1	956	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	243						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						CTTCGAGTATCCGGAGAGCTC	0.587000													81	106					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130653540	130653540	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130653540C>T	ENST00000510168.1	+	5	859	c.309C>T	c.(307-309)gcC>gcT	p.A103A	ATP2C1_ENST00000507488.2_Silent_p.A87A|ATP2C1_ENST00000505330.1_Silent_p.A87A|ATP2C1_ENST00000328560.8_Silent_p.A103A|ATP2C1_ENST00000504948.1_Silent_p.A87A|ATP2C1_ENST00000504381.1_Silent_p.A48A|ATP2C1_ENST00000508532.1_Silent_p.A103A|ATP2C1_ENST00000428331.2_Silent_p.A103A|ATP2C1_ENST00000359644.3_Silent_p.A103A|ATP2C1_ENST00000422190.2_Silent_p.A103A|ATP2C1_ENST00000533801.2_Silent_p.A98A|ATP2C1_ENST00000393221.4_Silent_p.A137A|ATP2C1_ENST00000513801.1_Silent_p.A87A			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	103					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGATGATGCCGTCAGTATCA	0.313000									Hailey-Hailey disease				35	2					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105521198	105521198	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105521198T>G	ENST00000276654.5	-	3	349	c.241A>C	c.(241-243)Agg>Cgg	p.R81R	LRP12_ENST00000424843.2_Silent_p.R62R	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	81	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTTTGCCCTTATGAACCAG	0.363000													22	73					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109198284	109198284	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109198284T>G	ENST00000370032.5	-	4	607	c.187A>C	c.(187-189)Agg>Cgg	p.R63R	HENMT1_ENST00000370031.1_Silent_p.R63R|HENMT1_ENST00000493676.1_Intron|HENMT1_ENST00000402983.1_Silent_p.R63R	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	63					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TTTAGCAGCCTTAAGAGTGAA	0.353000													5	27					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309671	89309671	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:89309671A>C	ENST00000493819.1	-	0	216																											AGGCTAAATAACTGCTAATGC	0.522000													102	286					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782365	107782365	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:107782365C>T	ENST00000311955.3	-	1	108	c.54G>A	c.(52-54)cgG>cgA	p.R18R		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	18					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGCGTATCTTCCGGAGGGCGC	0.622000													22	62					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216252967	216252967	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:216252967T>A	ENST00000354785.4	-	27	4679	c.4310A>T	c.(4309-4311)gAg>gTg	p.E1437V	FN1_ENST00000336916.4_Missense_Mutation_p.E1346V|FN1_ENST00000443816.1_Missense_Mutation_p.E1346V|FN1_ENST00000323926.6_Missense_Mutation_p.E1437V|FN1_ENST00000346544.3_Missense_Mutation_p.E1346V|FN1_ENST00000356005.4_Missense_Mutation_p.E1346V|FN1_ENST00000345488.5_Missense_Mutation_p.E1346V|FN1_ENST00000446046.1_Missense_Mutation_p.E1346V|FN1_ENST00000357867.4_Missense_Mutation_p.E1346V|FN1_ENST00000432072.2_Missense_Mutation_p.E1437V|FN1_ENST00000421182.1_Missense_Mutation_p.E1346V|FN1_ENST00000359671.1_Missense_Mutation_p.E1346V|FN1_ENST00000357009.2_Missense_Mutation_p.E1346V			P02751	FINC_HUMAN	fibronectin 1	1436	Cell-attachment.|Fibronectin type-III 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTGTGCTCTCATGTTGTTC	0.423000													20	43					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486352	8486352	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8486352T>C	ENST00000447869.1	-	3	1275	c.357A>G	c.(355-357)ggA>ggG	p.G119G	STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Silent_p.G119G|STK33_ENST00000534493.1_Silent_p.G78G|STK33_ENST00000396673.1_Silent_p.G119G|STK33_ENST00000396672.1_Silent_p.G119G			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	119	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CCAATATTCTTCCAAAGGTAT	0.338000													9	50					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	C	T	rs145110689		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178408731C>T	ENST00000231188.5	-	10	2739	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R854Q	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	854					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000													33	41					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42837755	42837755	+	Splice_Site	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42837755A>T	ENST00000334370.4	+	2	822		c.e2-1		MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCACCTCCCAGCCCCAAGCC	0.587000													23	75					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99963021	99963021	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:99963021C>T	ENST00000523368.1	+	3	1290	c.794C>T	c.(793-795)tCg>tTg	p.S265L	OSR2_ENST00000522510.1_Intron|OSR2_ENST00000297565.4_Intron|OSR2_ENST00000435298.2_Intron|OSR2_ENST00000457907.2_Intron			Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	0					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTGGCTGGTTCGTGTTATCAT	0.383000													5	2					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257577	9257577	+	Missense_Mutation	SNP	A	A	T	rs141465808	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9257577A>T	ENST00000383440.2	+	8	4500	c.4243A>T	c.(4243-4245)Aat>Tat	p.N1415Y	ANKRD12_ENST00000400020.3_Missense_Mutation_p.N1415Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.N1438Y	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1438						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TATCTGCCCAAATTCTAACAT	0.383000													5	118					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917313	25917313	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:25917313T>A	ENST00000377850.3	-	7	1176	c.652A>T	c.(652-654)Agc>Tgc	p.S218C	SLC17A2_ENST00000360488.3_Missense_Mutation_p.S218C|SLC17A2_ENST00000265425.3_Missense_Mutation_p.S218C			O00624	NPT3_HUMAN	solute carrier family 17, member 2	218					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCAGTGCTACCTGGGAAG	0.458000													17	76					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13755810	13755810	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:13755810G>A	ENST00000202816.1	-	4	1249	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CACCTTGACGGAAAATATTAC	0.308000													51	47					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133783817	133783817	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:133783817C>T	ENST00000367895.5	+	9	1103	c.639C>T	c.(637-639)tcC>tcT	p.S213S	EYA4_ENST00000431403.2_Silent_p.S213S|EYA4_ENST00000452339.2_Silent_p.S159S|EYA4_ENST00000430974.2_Silent_p.S159S|EYA4_ENST00000531901.1_Silent_p.S213S|EYA4_ENST00000355286.6_Silent_p.S190S|EYA4_ENST00000525849.1_Silent_p.S190S|EYA4_ENST00000355167.3_Silent_p.S213S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	213					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAACTCAGTCCCCATTACAGA	0.458000													31	4					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179744024	179744024	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179744024G>A	ENST00000253778.8	-	11	1162	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	331					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTGGCTGTTCGAAGATCTCCT	0.433000													35	52					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2924713	2924713	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:2924713C>T	ENST00000380574.1	+	2	569	c.138C>T	c.(136-138)atC>atT	p.I46I	SLC22A18_ENST00000347936.2_Silent_p.I46I|SLC22A18_ENST00000449793.2_Silent_p.I46I|SLC22A18AS_ENST00000533594.1_5'UTR|SLC22A18_ENST00000312221.5_Silent_p.I46I|SLC22A18AS_ENST00000455942.2_5'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	46					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTTCTCCATCGTGCCAGTGA	0.642000													15	47					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43243680	43243680	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43243680G>A	ENST00000422911.1	-	15	2027	c.1926C>T	c.(1924-1926)caC>caT	p.H642H	PRDM15_ENST00000269844.3_Silent_p.H951H|PRDM15_ENST00000538201.1_Silent_p.H605H|PRDM15_ENST00000447207.2_Silent_p.H585H|PRDM15_ENST00000398548.1_Silent_p.H622H			P57071	PRD15_HUMAN	PR domain containing 15	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACACCTTGAAGTGGACATGGA	0.612000													12	11					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120166326	120166326	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:120166326T>G	ENST00000392521.2	-	28	3627	c.3572A>C	c.(3571-3573)aAa>aCa	p.K1191T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K1149T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1149	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAGCCTCTGTTTGAGCTCTCG	0.428000													84	98					0	0	1	0	0
C9orf37	85026	broad.mit.edu	37	9	140510347	140510347	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140510347G>A	ENST00000371417.3	-	3	845	c.305C>T	c.(304-306)cCc>cTc	p.P102L	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	102										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TTTCTCAAAGGGGCATCCTGC	0.622000													24	59					0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36687915	36687915	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36687915A>C	ENST00000373433.4	+	5	1050	c.648A>C	c.(646-648)aaA>aaC	p.K216N		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	216										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TATTGGAAAAAATAACAGGTG	0.458000													22	75					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803345	185803345	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185803345C>T	ENST00000302277.6	+	4	3816	c.3222C>T	c.(3220-3222)ctC>ctT	p.L1074L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1074						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCTGCCCTCCCACCCCCTA	0.488000													73	34					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7247873	7247873	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7247873G>A	ENST00000361972.4	-	12	1438	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P450S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	450					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATGACCTCTGGAACAGGAGTC	0.443000													33	25					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196723312	196723312	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196723312C>T	ENST00000312428.6	-	43	8053	c.7953G>A	c.(7951-7953)gcG>gcA	p.A2651A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2651	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTGTTCATTCGCTATTGTTT	0.423000													9	14					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176283	112176283	+	Silent	SNP	C	C	T	rs138743276		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112176283C>T	ENST00000457016.1	+	16	5372	c.4992C>T	c.(4990-4992)tcC>tcT	p.S1664S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S1664S|APC_ENST00000257430.4_Silent_p.S1664S			P25054	APC_HUMAN	adenomatous polyposis coli	1664	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1664S(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAATCGAATCCCCTCCAAATG	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	8					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687944	30687944	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30687944T>G	ENST00000394670.4	+	5	678	c.509T>G	c.(508-510)cTg>cGg	p.L170R	ZNF207_ENST00000321233.6_Missense_Mutation_p.L170R|ZNF207_ENST00000342555.6_Missense_Mutation_p.L173R|ZNF207_ENST00000341711.6_Missense_Mutation_p.L71R|ZNF207_ENST00000577908.1_Missense_Mutation_p.L170R|ZNF207_ENST00000394673.2_Missense_Mutation_p.L170R	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTCCTCCTCTGATGCCAGGA	0.388000													3	26					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993604	76993604	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76993604G>C	ENST00000302345.2	-	2	595	c.101C>G	c.(100-102)gCc>gGc	p.A34G	CANT1_ENST00000591773.1_Missense_Mutation_p.A34G|CANT1_ENST00000392446.5_Missense_Mutation_p.A34G	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	34					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGGTCCGCGGCCTTGGTCAT	0.667000			T	ETV4	prostate								10	0					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7084898	7084898	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7084898A>C	ENST00000546220.1	+	0	692				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCCATCAGTAACTACCCCCTT	0.468000													9	125					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129748212	129748212	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:129748212G>A	ENST00000446488.3	-	14	1606	c.1503C>T	c.(1501-1503)gtC>gtT	p.V501V	NFRKB_ENST00000524746.1_Silent_p.V501V|NFRKB_ENST00000304521.5_Silent_p.V501V|NFRKB_ENST00000524794.1_Silent_p.V526V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	501					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACACCCGAGGGACAGGTGTTG	0.433000													29	36					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409492	130409492	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:130409492G>A	ENST00000370904.1	-	22	4027	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	IGSF1_ENST00000370910.1_Silent_p.I1039I|IGSF1_ENST00000361420.3_Silent_p.I1048I|IGSF1_ENST00000370903.3_Silent_p.I1053I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1048	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTGTATCTTGATAGAACTGG	0.507000													26	30					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14928201	14928201	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:14928201G>A	ENST00000338981.3	+	32	5697	c.4752G>A	c.(4750-4752)agG>agA	p.R1584R	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1584					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTCTATCAGGAACAGTATTC	0.428000													22	0					0	0	1	0	0
NPFF	8620	broad.mit.edu	37	12	53900664	53900664	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53900664T>C	ENST00000591834.1	-	13	1419	c.1370A>G	c.(1369-1371)tAc>tGc	p.Y457C	NPFF_ENST00000267017.3_Missense_Mutation_p.T80A																							GATCCCTGGGTATTTCTGCCA	0.572000													31	66					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722310	196722310	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196722310G>A	ENST00000312428.6	-	44	8305	c.8205C>T	c.(8203-8205)ttC>ttT	p.F2735F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2735	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGGGCCCCAGAAATCCTCAA	0.408000													14	38					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74328430	74328430	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74328430G>A	ENST00000446526.3	-	4	822	c.377C>T	c.(376-378)cCc>cTc	p.P126L	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.P23L	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	97					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGGGAAGTAGGGGATGACCCC	0.517000													75	29					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951079	38951079	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38951079C>T	ENST00000355481.4	+	20	2556	c.2425C>T	c.(2425-2427)Cca>Tca	p.P809S	RYR1_ENST00000360985.3_Missense_Mutation_p.P809S|RYR1_ENST00000359596.3_Missense_Mutation_p.P809S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	809					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGCTATGCTCCATGCCATGA	0.622000													70	78					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225324	53225324	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53225324C>T	ENST00000330553.5	-	2	598	c.564G>A	c.(562-564)agG>agA	p.R188R		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	188	Linker 1.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGGTTGTTCCTGGTGACAC	0.612000													55	2					0	0	1	0	0
TATDN1	83940	broad.mit.edu	37	8	125531096	125531096	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:125531096T>C	ENST00000276692.6	-	4	202	c.165A>G	c.(163-165)caA>caG	p.Q55Q	TATDN1_ENST00000519548.1_Silent_p.Q8Q|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000605953.1_Silent_p.Q55Q|TATDN1_ENST00000517678.1_Intron	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	55						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTACTGTCTTGTAGATTTC	0.308000													5	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179410548	179410548	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179410548G>A	ENST00000589042.1	-	343	95639	c.95416_splice	c.e343+1	p.F31805_splice	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.F22932_splice|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.F22740_splice|TTN_ENST00000359218.5_Splice_Site_p.F22865_splice|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.F30164_splice|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.F29237_splice|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30164	Fibronectin type-III 131.						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)			AATACTTACTGAATGAGTTTC	0.378000													30	57					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162738949	162738949	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:162738949G>A	ENST00000375514.5	+	10	1419	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D397N|SLC4A10_ENST00000446997.1_Missense_Mutation_p.D397N|SLC4A10_ENST00000535165.1_Intron|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D367N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D367N	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	397					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTAATGACAGATGAGGTATT	0.383000													4	6					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93619383	93619383	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:93619383A>G	ENST00000371627.4	+	25	3638	c.3259A>G	c.(3259-3261)Aga>Gga	p.R1087G		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1087	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCACAAAGACAGATCTTGTTA	0.368000													4	25					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20882029	20882029	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:20882029A>G	ENST00000380249.1	+	22	2841	c.2477A>G	c.(2476-2478)cAa>cGa	p.Q826R	FOCAD_ENST00000338382.6_Missense_Mutation_p.Q826R|FOCAD_ENST00000605086.1_Missense_Mutation_p.Q262R	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	826						integral to membrane	binding										ACAAACAAGCAACCAGGACTG	0.378000													24	57					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64375247	64375247	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64375247G>A	ENST00000265459.6	-	23	5021	c.4560C>T	c.(4558-4560)gtC>gtT	p.V1520V	NRXN2_ENST00000409571.1_Silent_p.V1513V|NRXN2_ENST00000377551.1_Silent_p.V1520V|NRXN2_ENST00000377559.3_Silent_p.V1450V|NRXN2_ENST00000301894.2_Silent_p.V474V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1520					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCGGTCCGTGACCAGGGGAA	0.687000													6	10					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905698	5905698	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5905698A>G	ENST00000316987.2	+	1	198	c.176A>G	c.(175-177)cAg>cGg	p.Q59R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCTACACCAGCCCATGTTC	0.428000													34	121					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35074167	35074167	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35074167A>T	ENST00000378643.3	-	14	2298	c.1807T>A	c.(1807-1809)Tct>Act	p.S603T	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	603			S -> F (in dbSNP:rs17878854).		cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCACGATCAGAGGGACGGATC	0.517000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					15	44					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913502	32913502	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32913502T>G	ENST00000544455.1	+	11	5237	c.5010T>G	c.(5008-5010)gcT>gcG	p.A1670A	BRCA2_ENST00000380152.3_Silent_p.A1670A	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1670					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGCCTTAGCTTTTTACACAA	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	21					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815280	242815280	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242815280G>A	ENST00000343216.3	+	2	1601	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	525						integral to membrane											CCGCCGGGAGGAAGACGAGCG	0.652000													93	12					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51094858	51094858	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:51094858G>T	ENST00000441560.2	+	13	1710	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	ATL1_ENST00000357032.3_Missense_Mutation_p.G410V|ATL1_ENST00000354525.4_Missense_Mutation_p.G410V|ATL1_ENST00000358385.6_Missense_Mutation_p.G410V	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	410					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAGATGGGTGGGGAAGAATTT	0.433000													14	42					0.000219431	0.000219707	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110734613	110734613	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110734613C>T	ENST00000331565.4	+	7	1369	c.884C>T	c.(883-885)cCc>cTc	p.P295L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	295					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATGCTGGACCCCCAGGTGTGG	0.542000													32	45					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666654	12666654	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:12666654G>A	ENST00000425538.1	+	14	2854	c.2654G>A	c.(2653-2655)gGg>gAg	p.G885E	MYOCD_ENST00000343344.4_Missense_Mutation_p.G837E|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	837					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACTTTGATGGGATAATGGAT	0.478000													47	3					0	0	1	0	0
LINC00521	256369	broad.mit.edu	37	14	94464424	94464424	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94464424C>T	ENST00000444118.1	+	0	104					NR_024182.1																						CTGTCTTCATCCTGCCTGACT	0.572000													19	9					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101347222	101347222	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101347222G>A	ENST00000344327.3	-	6	1978	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	TRPC6_ENST00000360497.4_Silent_p.P463P|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Silent_p.P402P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	518					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AATATTCCTTGGGGCCCTGAG	0.403000													35	3					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92007443	92007443	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:92007443G>C	ENST00000450295.1	-	8	1293	c.517C>G	c.(517-519)Ctt>Gtt	p.L173V	SEMA4D_ENST00000422704.2_Missense_Mutation_p.L173V|SEMA4D_ENST00000343780.4_Missense_Mutation_p.L173V|SEMA4D_ENST00000356444.2_Missense_Mutation_p.L173V|SEMA4D_ENST00000438547.2_Missense_Mutation_p.L173V|SEMA4D_ENST00000339861.4_Missense_Mutation_p.L173V|SEMA4D_ENST00000420987.1_Missense_Mutation_p.L173V|SEMA4D_ENST00000455551.2_Missense_Mutation_p.L173V			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	173	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCCGAATAAAGTTCTCCATCT	0.478000													9	26					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39292672	39292672	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39292672T>G	ENST00000307751.4	-	9	1262	c.785A>C	c.(784-786)aAg>aCg	p.K262T		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	262	Beta-galactoside binding (By similarity).|Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTGGGTGATCTTCTTCTCCTC	0.567000													25	96					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153784323	153784323	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153784323G>A	ENST00000368655.4	-	10	1775	c.1530_splice	c.e10-1	p.A511_splice		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	511						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCTGTGGAGCCTGCAATGA	0.517000													23	16					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:51174110G>A	ENST00000440970.1	-	2	2163	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P675S|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	675					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P675S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCCAAAAGGAAACTTGGCC	0.582000													60	3					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62979531	62979531	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62979531A>C	ENST00000251157.5	-	32	4008	c.3975T>G	c.(3973-3975)agT>agG	p.S1325R	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1294R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1325					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAGGCTTCGACTTGATTCTG	0.408000													68	76					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568257	223568257	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:223568257G>A	ENST00000366875.3	+	1	1543	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	480										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGCCCAGAAGGAGGAAGAGC	0.592000													22	21					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549387	127549387	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127549387A>C	ENST00000373580.3	+	2	224	c.224A>C	c.(223-225)tAc>tCc	p.Y75S		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	75										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGGACTTCTACACGGTGGAG	0.632000													4	44					0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28597020	28597020	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28597020C>T	ENST00000317058.3	+	4	390	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	68					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACCGCCAAGGCCGATGCAGAG	0.602000													16	36					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829774	106829774	+	RNA	SNP	G	G	A	rs11546812		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106829774G>A	ENST00000390616.2	-	0	219																											GGGGCTGGCGGATCCAGCTCC	0.572000													47	43					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107419009	107419009	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:107419009C>T	ENST00000394872.2	-	29	2939	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E	COL4A6_ENST00000545689.1_Missense_Mutation_p.G902E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G902E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G903E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G902E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	903	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCTACGAATCCAACAGACCC	0.438000									Alport syndrome with Diffuse Leiomyomatosis				17	0					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145977	70145977	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:70145977G>A	ENST00000374299.3	-	11	1816	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F	SLC7A3_ENST00000298085.4_Missense_Mutation_p.L558F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	558					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCATCATAAGGTAAATATTC	0.458000													13	0					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46313394	46313394	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:46313394G>A	ENST00000306156.3	+	11	1812	c.1485G>A	c.(1483-1485)atG>atA	p.M495I		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	495	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GAGACCTCATGTTTCAGATTC	0.498000													17	53					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294802	5294802	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5294802A>C	ENST00000546004.1	-	2	460	c.214T>G	c.(214-216)Ttt>Gtt	p.F72V	PROKR2_ENST00000217270.3_Missense_Mutation_p.F72V			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	72						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATAAAGACAAAGTTACCGATG	0.542000										HNSCC(71;0.22)			7	71					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898661	160898661	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160898661G>A	ENST00000283243.7	-	3	748	c.542C>T	c.(541-543)cCc>cTc	p.P181L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.P181L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	181	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATACTGGAAGGGAAACATACA	0.433000													23	75					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33512477	33512477	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33512477C>T	ENST00000254260.3	-	4	425	c.390_splice	c.e4+1	p.K130_splice	RHPN2_ENST00000400226.4_Intron	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	130	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGAGATTTACCTTGAGGACGA	0.488000													23	34					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45609904	45609904	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:45609904G>T	ENST00000267430.5	+	3	836	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	FANCM_ENST00000556036.1_Missense_Mutation_p.D251Y|FANCM_ENST00000542564.2_Intron	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	251	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCAGGTAGTGATATAAAGGT	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				21	37					9.95505e-16	1.00337e-15	1	1	0
LRRC3	81543	broad.mit.edu	37	21	45876828	45876828	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45876828G>A	ENST00000291592.4	+	2	618	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	101						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CAACGCCATCGAGGCCATCGG	0.672000													58	49					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39782105	39782105	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39782105T>C	ENST00000564288.1	+	28	4269	c.3492T>C	c.(3490-3492)gcT>gcC	p.A1164A	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.A1169A|MACF1_ENST00000317713.7_Silent_p.A1169A|MACF1_ENST00000361689.2_Silent_p.A1169A|MACF1_ENST00000372915.3_Silent_p.A1169A|MACF1_ENST00000567887.1_Silent_p.A1201A|MACF1_ENST00000545844.1_Silent_p.A1169A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1169					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACAGGATGCTGAACTCTTGG	0.428000													11	217					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099744	110099744	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110099744G>A	ENST00000518632.1	+	2	354	c.3G>A	c.(1-3)atG>atA	p.M1I	TRHR_ENST00000311762.2_Start_Codon_SNP_p.M1I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	1						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTCTAAAGATGGAAAACGAGA	0.463000													23	25					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188228123	188228123	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:188228123C>T	ENST00000409998.1	-	10	1388	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	CALCRL_ENST00000410068.1_Missense_Mutation_p.A203T|CALCRL_ENST00000392370.3_Missense_Mutation_p.A203T|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	203						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTACTAAGGCCTGGTTGTTG	0.418000													28	13					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768463	51768463	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51768463C>T	ENST00000371117.3	-	43	7203	c.6928G>A	c.(6928-6930)Gga>Aga	p.G2310R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2310R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2310					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)					TTGGAGAGTCCCTCGGCACCA	0.433000													48	71					0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137477930	137477930	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:137477930A>C	ENST00000296980.2	-	4	559	c.259T>G	c.(259-261)Tct>Gct	p.S87A	IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	87					regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		aagttacaagaaatgtgctgc	0.443000													4	33					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105763182	105763182	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105763182A>G	ENST00000369755.3	+	9	2791	c.2246A>G	c.(2245-2247)gAt>gGt	p.D749G	SLK_ENST00000335753.4_Missense_Mutation_p.D749G	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	749					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AATGATAATGATTCAGGCACT	0.348000													12	29					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795451	42795451	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42795451C>T	ENST00000572681.2	+	11	5326	c.5258C>T	c.(5257-5259)cCa>cTa	p.P1753L	CIC_ENST00000160740.3_Missense_Mutation_p.P844L|CIC_ENST00000575354.2_Missense_Mutation_p.P844L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	844					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)				GCCCCAGCACCAGCCCCTGGG	0.672000			"""Mis, F, S"""		oligodendroglioma								21	18					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133165	51133165	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51133165G>A	ENST00000338916.4	-	3	1571	c.938C>T	c.(937-939)tCg>tTg	p.S313L	SYT3_ENST00000600079.1_Missense_Mutation_p.S313L|SYT3_ENST00000593901.1_Missense_Mutation_p.S313L|SYT3_ENST00000544769.1_Missense_Mutation_p.S313L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	313	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGCTGGTCCGAGCCATAGAG	0.667000													61	91					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224583	3224583	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3224583G>A	ENST00000520002.1	-	21	3644	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	CSMD1_ENST00000537824.1_Missense_Mutation_p.S1029L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1029L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1030L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1029L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1030L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1030L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1030	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCCTCGTACGAAATTGAGAA	0.468000													12	13					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496387	24496387	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:24496387G>A	ENST00000284224.8	-	6	1445	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Silent_p.L390L|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	390					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GGAAATTTCAGCTCCTTTGGA	0.398000													46	71					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606370	139606370	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139606370G>T	ENST00000303045.6	-	63	4951	c.4505C>A	c.(4504-4506)cCa>cAa	p.P1502Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1482Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1502	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGGGCCCTGGGGGCCCAGG	0.637000										HNSCC(7;0.00092)			15	68					5.01169e-05	5.01878e-05	1	1	0
CTCFL	140690	broad.mit.edu	37	20	56098265	56098265	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:56098265T>C	ENST00000426658.2	-	2	1274	c.613A>G	c.(613-615)Aca>Gca	p.T205A	CTCFL_ENST00000422109.2_Missense_Mutation_p.T205A|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Missense_Mutation_p.T205A|CTCFL_ENST00000243914.3_Missense_Mutation_p.T205A|CTCFL_ENST00000371196.2_Missense_Mutation_p.T205A|CTCFL_ENST00000423479.2_Missense_Mutation_p.T205A|CTCFL_ENST00000433949.2_Missense_Mutation_p.T205A|CTCFL_ENST00000422869.2_Missense_Mutation_p.T205A|CTCFL_ENST00000429804.2_Missense_Mutation_p.T205A			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	205					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTGACATTGTTTCCACAAAA	0.388000													5	111					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48141403	48141403	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48141403A>G	ENST00000405493.2	-	15	1563	c.1354T>C	c.(1354-1356)Tca>Cca	p.S452P	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.S452P|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.S452P|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.S452P|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.S494P|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.S494P|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.S494P	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	452					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ACCAGGTCTGAGAGTTTCTAA	0.587000													15	80					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50894660	50894660	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50894660T>G	ENST00000380817.2	-	31	4434	c.4251A>C	c.(4249-4251)tcA>tcC	p.S1417S	SBF1_ENST00000390679.3_Silent_p.S1391S|SBF1_ENST00000348911.6_Silent_p.S1392S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1391	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCCACTCTGAGTCCTCCA	0.632000													7	27					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150345358	150345358	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:150345358G>A	ENST00000218316.3	+	1	234	c.165G>A	c.(163-165)aaG>aaA	p.K55K	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	55					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGACGAAGAACAAGAAGC	0.498000													67	4					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69264140	69264140	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69264140G>A	ENST00000551568.1	-	5	531	c.471C>T	c.(469-471)ccC>ccT	p.P157P	CPM_ENST00000546373.1_Silent_p.P157P|CPM_ENST00000338356.3_Silent_p.P157P	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	157					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAAAAGCATCGGGGAAATTTC	0.398000													27	84					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086690	53086690	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53086690C>T	ENST00000540331.1	+	5	1801	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.H526Y|ZNF701_ENST00000391785.3_Missense_Mutation_p.H460Y	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TCATAGACTTCATACTGGAAA	0.358000													19	50					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323507	44323507	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44323507C>T	ENST00000354250.2	+	3	454	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	ACAGAAAGTTCTGTCTCCATT	0.493000													125	131					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282315	125282315	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125282315G>A	ENST00000340750.1	+	1	896	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GACATAAAGGGAGCCCTGGAG	0.438000													7	22					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191588	149191588	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149191588G>A	ENST00000461958.2	-	2	227	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	ZNF746_ENST00000458143.2_Missense_Mutation_p.P11S|ZNF746_ENST00000340622.3_Missense_Mutation_p.P11S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	11					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	p.P11S(1)		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)			ATCGTCCACGGAGAAATCTTT	0.547000													18	64					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37978548	37978548	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:37978548A>C	ENST00000343823.6	+	10	1355	c.1046A>C	c.(1045-1047)gAt>gCt	p.D349A	ASH2L_ENST00000428278.2_Missense_Mutation_p.D255A|ASH2L_ENST00000545394.1_Missense_Mutation_p.D210A|ASH2L_ENST00000521652.1_Missense_Mutation_p.D255A|ASH2L_ENST00000250635.7_Missense_Mutation_p.D255A	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	349					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GCTGAGCCTGATCCGCACGCC	0.527000											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	92					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582947	179582947	+	Splice_Site	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179582947T>A	ENST00000589042.1	-	86	25010	c.24784_splice	c.e86-1	p.E8262_splice	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site_p.E7945_splice|TTN_ENST00000342992.6_Splice_Site_p.E7018_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7945	Ig-like 65.						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)			AGTACGGTGGTTCTATGGTAC	0.398000													14	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612372	179612372	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179612372C>T	ENST00000360870.5	-	46	14977	c.14755G>A	c.(14755-14757)Gaa>Aaa	p.E4919K	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1042	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTAGTTTCAGGAACCTCA	0.418000													22	52					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857567	14857567	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:14857567C>T	ENST00000380881.4	-	6	1627	c.812G>A	c.(811-813)aGc>aAc	p.S271N	FREM1_ENST00000380880.3_Missense_Mutation_p.S271N|FREM1_ENST00000422223.2_Missense_Mutation_p.S271N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	271					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CACAATTTTGCTCCTGGTATC	0.502000													39	81					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182975	114182975	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:114182975G>A	ENST00000535401.1	+	5	835	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.G191S|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	191					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GAAGCCAGGGGGCTTCCTGGT	0.622000													43	0					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355282	175355282	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:175355282G>A	ENST00000367674.1	-	8	2371	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S	TNR_ENST00000263525.2_Missense_Mutation_p.P555S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	555	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCTCAGGGGAGGCTGCAGC	0.607000													41	34					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154138960	154138960	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:154138960T>G	ENST00000389740.2	-	3	1590	c.1491A>C	c.(1489-1491)ggA>ggC	p.G497G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	497						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAATATCACCTCCTGTTTTGT	0.403000													10	184					0	0	1	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172142	40172142	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40172142C>T	ENST00000412609.1	+	0	131																											ACCGATCATCCCTTTCGTGTG	0.522000													13	16					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20551981	20551981	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20551981T>C	ENST00000329697.6	-	13	1792	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G	ACSM2B_ENST00000567001.1_Missense_Mutation_p.R542G|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R542G|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R463G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	542	Coenzyme A binding (By similarity).				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTACCTTTCTTGGGTACTTG	0.468000													17	50					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75150160	75150160	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75150160A>G	ENST00000356357.4	-	5	835	c.320T>C	c.(319-321)cTa>cCa	p.L107P	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TTCCACTGCTAGCTCGACATG	0.512000													11	137					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57675439	57675439	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:57675439T>G	ENST00000413566.2	-	18	2374	c.2015A>C	c.(2014-2016)aAg>aCg	p.K672T	EXOC5_ENST00000340918.7_Missense_Mutation_p.K607T	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	672					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GCAGACTTGCTTTAAATTATC	0.398000													22	54					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53754791	53754791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53754791G>A	ENST00000333952.4	-	3	178	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	ZNF677_ENST00000595293.1_5'UTR|ZNF677_ENST00000594681.1_Nonsense_Mutation_p.Q5*|ZNF677_ENST00000601413.1_Nonsense_Mutation_p.Q5*|ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Q5*|ZNF677_ENST00000601828.1_Nonsense_Mutation_p.Q5*|ZNF677_ENST00000599012.1_Nonsense_Mutation_p.Q5*|ZNF677_ENST00000598806.1_Nonsense_Mutation_p.Q5*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ACTTTTACCTGAGAAAGAGCC	0.373000													63	25					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948257	89948257	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89948257G>A	ENST00000405460.2	+	19	3607	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1171	Calx-beta 9.				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)		GGAGTTCTATGAAACTTCAGG	0.388000													18	25					0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141471529	141471529	+	Nonstop_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141471529A>C	ENST00000323570.3	+	9	1014	c.882A>C	c.(880-882)taA>taC	p.*294Y		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	0					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAAAAGTATAAATCATCCACT	0.269000													6	13					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903278	22903278	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22903278C>T	ENST00000166244.3	+	3	800	c.728C>T	c.(727-729)cCc>cTc	p.P243L	EPHA8_ENST00000374644.4_Missense_Mutation_p.P243L|EPHA8_ENST00000538803.1_Missense_Mutation_p.P243L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	243	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGGGACACACCCAAGATGTAC	0.667000													15	61					0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11969761	11969761	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:11969761T>G	ENST00000434724.2	-	14	1917	c.1718A>C	c.(1717-1719)aAa>aCa	p.K573T	GSPT1_ENST00000439887.2_Missense_Mutation_p.K572T|GSPT1_ENST00000563468.1_Missense_Mutation_p.K435T|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Missense_Mutation_p.K435T	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	435					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTCTCCTGATTTTTTGTCTAC	0.373000													7	36					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4218131	4218131	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4218131C>T	ENST00000404826.2	+	35	5150	c.5011C>T	c.(5011-5013)Cgg>Tgg	p.R1671W	SDK1_ENST00000389531.3_Missense_Mutation_p.R1651W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1671	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAAGAAGTACCGGCGCTATGA	0.527000													103	119					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237664095	237664095	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237664095C>T	ENST00000366574.2	+	21	2605	c.2288C>T	c.(2287-2289)gCc>gTc	p.A763V	RYR2_ENST00000360064.6_Missense_Mutation_p.A761V|RYR2_ENST00000542537.1_Missense_Mutation_p.A747V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	763	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATCTGAGTGCCCCAAGCATC	0.428000													97	118					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507235	26507235	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26507235A>C	ENST00000361530.6	+	3	385	c.240A>C	c.(238-240)caA>caC	p.Q80H	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.Q80H			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	80	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGAACCTGCAAAGCCTGACAG	0.602000													3	37					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167551869	167551869	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:167551869C>T	ENST00000519204.1	+	10	1778	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	TENM2_ENST00000518659.1_Missense_Mutation_p.P675S|TENM2_ENST00000545108.1_Missense_Mutation_p.P675S|TENM2_ENST00000520394.1_Missense_Mutation_p.P443S|TENM2_ENST00000403607.2_Missense_Mutation_p.P508S|CTB-178M22.1_ENST00000517408.1_RNA					teneurin transmembrane protein 2																		TTGCTTGGATCCCACCTGCTC	0.502000													3	3					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33463897	33463897	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:33463897A>C	ENST00000265112.3	+	17	2186	c.1875A>C	c.(1873-1875)ccA>ccC	p.P625P	TARS_ENST00000541634.1_Silent_p.P521P|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000414361.2_Silent_p.P504P|TARS_ENST00000455217.2_Silent_p.P658P|TARS_ENST00000502553.1_Silent_p.P625P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	625					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)	TGGTAGTTCCAGTGGGACCAA	0.408000													3	20					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108608297	108608297	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:108608297T>G	ENST00000265174.4	-	4	720	c.448A>C	c.(448-450)Agt>Cgt	p.S150R	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	150					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AACGGTAAACTTGCACCTTCA	0.343000													5	54					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526301	16526301	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:16526301A>C	ENST00000311331.7	-	6	1990	c.1899T>G	c.(1897-1899)atT>atG	p.I633M		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCAGTATGAATTTTCTGAT	0.388000													6	178					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13220455	13220455	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13220455A>T	ENST00000592062.1	-	12	1790	c.1220T>A	c.(1219-1221)tTt>tAt	p.F407Y	TRMT1_ENST00000221504.8_Missense_Mutation_p.F378Y|TRMT1_ENST00000437766.1_Missense_Mutation_p.F407Y|TRMT1_ENST00000357720.4_Missense_Mutation_p.F407Y			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	407							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ACGGCCCACAAAATCCAGGTC	0.642000													5	62					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47036849	47036849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47036849G>T	ENST00000450053.3	+	13	1803	c.1624G>T	c.(1624-1626)Gga>Tga	p.G542*	NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.G542*|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	542							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCCCGGCCAGGATTGGACTC	0.647000													8	13					0.0381472	0.0381592	1	1	0
UPP2	151531	broad.mit.edu	37	2	158978118	158978118	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:158978118G>A	ENST00000605860.1	+	8	869	c.823G>A	c.(823-825)Gat>Aat	p.D275N	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.D218N|UPP2_ENST00000409859.4_Missense_Mutation_p.D275N			O95045	UPP2_HUMAN	uridine phosphorylase 2	218					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GTGTACCTATGATTTTTATGA	0.353000													20	36					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19924167	19924167	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:19924167G>A	ENST00000295824.9	-	12	2364	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	EFHB_ENST00000344838.4_Missense_Mutation_p.R605C	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	735					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGATGCGACGAATTCGGGGA	0.418000													11	11					0	0	1	0	0
DNAJC18	202052	broad.mit.edu	37	5	138773139	138773139	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:138773139G>A	ENST00000302060.5	-	2	229	c.149C>T	c.(148-150)tCt>tTt	p.S50F		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	50					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCATTCTCAGACTTCTTTTC	0.498000													18	28					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33626825	33626825	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33626825A>G	ENST00000374316.5	+	7	1616	c.556A>G	c.(556-558)Aat>Gat	p.N186D	ITPR3_ENST00000605930.1_Missense_Mutation_p.N186D			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	186	MIR 2.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGTGATCCTGAATCCTGTCAA	0.632000													4	151					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16643867	16643867	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16643867G>A	ENST00000546361.2	-	4	628	c.477C>T	c.(475-477)aaC>aaT	p.N159N	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.N159N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	159	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCTGCAGGAGGTTGTCAAACT	0.627000													3	3					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17726866	17726866	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:17726866T>G	ENST00000377524.3	+	4	452	c.237T>G	c.(235-237)atT>atG	p.I79M	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	79	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTGGCAAAATTTTTCATTTAG	0.343000													3	50					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408763	47408763	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47408763C>T	ENST00000295454.3	+	8	1192	c.900C>T	c.(898-900)atC>atT	p.I300I	GABRB1_ENST00000538619.1_Silent_p.I230I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	300					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCCAAAGATCCCTTATGTCA	0.448000													17	35					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483666	12483666	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:12483666A>T	ENST00000535902.1	-	4	1154	c.591T>A	c.(589-591)gcT>gcA	p.A197A	MANSC1_ENST00000545735.1_Silent_p.A116A|MANSC1_ENST00000396349.3_Silent_p.A163A			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	197						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCCTTATAAGCAAGGAGCT	0.448000													16	54					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106139911	106139911	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:106139911A>G	ENST00000369704.3	+	9	1432	c.1298A>G	c.(1297-1299)aAg>aGg	p.K433R	CCDC147_ENST00000369703.1_Missense_Mutation_p.K55R|CCDC147_ENST00000312902.5_Missense_Mutation_p.K55R	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	433										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAGCAGAGAAAGATCATCTTT	0.493000													4	41					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	805543	805543	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:805543C>T	ENST00000356948.6	+	9	1367	c.944C>T	c.(943-945)cCc>cTc	p.P315L	PTBP1_ENST00000349038.4_Intron|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.P308L	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	297					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTTCCCTCCCACCTTTGCC	0.547000													93	124					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561117	41561117	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41561117C>T	ENST00000400454.1	-	12	2882	c.2405G>A	c.(2404-2406)gGg>gAg	p.G802E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	802	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTTTCTGCCCCTGCGTGGC	0.493000													48	48					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79254932	79254932	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:79254932G>A	ENST00000272324.5	+	5	517		c.e5-1		REG3G_ENST00000409471.1_Splice_Site|REG3G_ENST00000393897.2_Splice_Site	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma						acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCTATAGGGCTCTGAGC	0.517000													35	73					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203217	140203217	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140203217C>T	ENST00000529859.1	+	1	1857	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	PCDHA5_ENST00000378126.3_Silent_p.I619I|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.I619I|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCGCATCCCGTTCCGCG	0.652000													30	30					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86905979	86905979	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:86905979C>T	ENST00000370565.4	+	8	1514	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	451	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTGCAGCCCCAAATCTGGAG	0.428000													14	52					0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3543546	3543546	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3543546C>T	ENST00000046640.3	+	3	639	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	CTNS_ENST00000488623.1_Intron|CTNS_ENST00000399306.2_Missense_Mutation_p.L16F|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000381870.3_Missense_Mutation_p.L16F|CTNS_ENST00000441220.2_5'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	16					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCCCCTGAAGCTCGTAGAGAA	0.403000													21	155					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151149321	151149321	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151149321T>C	ENST00000354473.4	-	6	963	c.927A>G	c.(925-927)ccA>ccG	p.P309P	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	298					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTATAGGGCTGGACGATGGG	0.522000													10	70					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8717087	8717087	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8717087T>C	ENST00000534127.1	-	22	3687	c.3302A>G	c.(3301-3303)gAg>gGg	p.E1101G	ST5_ENST00000313726.6_Missense_Mutation_p.E1101G|ST5_ENST00000526099.1_Missense_Mutation_p.E614G|RP11-152H18.3_ENST00000529883.1_RNA|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.E573G|ST5_ENST00000526757.1_Missense_Mutation_p.E681G|ST5_ENST00000534278.1_Missense_Mutation_p.E292G|ST5_ENST00000530438.1_Missense_Mutation_p.E681G|ST5_ENST00000357665.1_Missense_Mutation_p.E1101G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1101					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CACTCGCTGCTCAAAAAGGCC	0.493000													17	79					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201478607	201478607	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201478607G>A	ENST00000374700.2	+	15	1770	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	510					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCGCCAGGTGGGAAAGTGGAG	0.463000													23	31					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624671	53624671	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:53624671C>T	ENST00000219022.2	+	5	1376	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	433	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCTTCTAACGCCTTCATGGTA	0.428000													23	38					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93077037	93077037	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:93077037G>A	ENST00000510627.4	-	1	306	c.233C>T	c.(232-234)cCc>cTc	p.P78L	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGGCCTGCAGGGTGCTATCCA	0.682000													4	6					0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92675309	92675309	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:92675309G>A	ENST00000371697.3	-	8	1088	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	280					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.I280M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CACAGTTCTTGATGTTGAGAT	0.458000													24	0					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230822772	230822772	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:230822772A>G	ENST00000534989.1	+	13	1630	c.1295A>G	c.(1294-1296)aAc>aGc	p.N432S	COG2_ENST00000366669.4_Missense_Mutation_p.N491S|COG2_ENST00000366668.3_Missense_Mutation_p.N491S|COG2_ENST00000535166.1_Missense_Mutation_p.N375S|COG2_ENST00000546013.1_Missense_Mutation_p.N180S			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	491					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ACCCAAGGAAACACTGAAGAC	0.473000													4	49					0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37239338	37239338	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37239338G>A	ENST00000591344.1	-	5	2762	c.2604C>T	c.(2602-2604)ccC>ccT	p.P868P	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACAATGATAGGGTTTCTCAC	0.398000													3	4					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971429	57971429	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57971429G>A	ENST00000302592.6	-	1	224	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GGTAGGCAAGGAAGAGATACA	0.443000													48	79					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114453519	114453519	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:114453519A>T	ENST00000375478.3	-	3	501	c.321T>A	c.(319-321)ccT>ccA	p.P107P	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ACGTATCTCGAGGGTTGAGGA	0.562000													5	70					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398442	47398442	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47398442C>T	ENST00000310638.4	-	11	1386	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	CYP4A11_ENST00000371905.1_Missense_Mutation_p.G452E|CYP4A11_ENST00000371904.4_Missense_Mutation_p.G453E|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	452					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.G452E(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CCTTGATCCTCCTGAGAAGGG	0.507000													264	166					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16948225	16948225	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:16948225A>C	ENST00000377833.4	-	50	7954	c.7889T>G	c.(7888-7890)tTt>tGt	p.F2630C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2630	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGACATCAAATTGACAGTC	0.378000													5	61					0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619522	68619522	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:68619522G>A	ENST00000229134.4	-	1	79	c.15C>T	c.(13-15)ttC>ttT	p.F5F	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	5					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ACCTCAAAATGAAATTCACCA	0.463000													50	180					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323222	29323222	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29323222A>T	ENST00000377154.1	-	4	1050	c.751T>A	c.(751-753)Ttt>Att	p.F251I	OR5V1_ENST00000543825.1_Missense_Mutation_p.F251I			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCATAAAAGAGAAAGACA	0.448000													19	67					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39546732	39546732	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39546732C>T	ENST00000379631.4	-	4	574		c.e4-1		STOML3_ENST00000423210.1_Splice_Site	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3							integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AGGATCAAACCTATGAGAGAA	0.393000													36	32					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732584	88732584	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88732584G>A	ENST00000226284.5	+	7	543	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	159	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		gaagaggaaggaaatgaaaac	0.438000													7	17					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408332	29408332	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29408332C>T	ENST00000444197.2	+	1	1250	c.540C>T	c.(538-540)atC>atT	p.I180I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGTGAGATCCAGCCTGTCC	0.587000													78	109					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413985	105413985	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105413985T>G	ENST00000333244.5	-	7	7922	c.7803A>C	c.(7801-7803)gaA>gaC	p.E2601D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2601						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCTGTCACTTCCGCCTTGG	0.617000													61	171					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135357735	135357735	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135357735T>G	ENST00000343036.2	+	2	282	c.234T>G	c.(232-234)gtT>gtG	p.V78V	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	78										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTTATTCTGTTTATGACTCCT	0.498000													16	71					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268969	22268969	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:22268969C>T	ENST00000263026.5	+	9	1381	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	303	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.R303C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CACAGGTGTCCGCGGGATGGC	0.602000													27	46					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606488	21606488	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:21606488C>T	ENST00000392288.2	+	4	1136	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H215Y	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCACACTGAAGA	0.348000													8	46					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398124	23398124	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:23398124A>G	ENST00000379361.4	+	2	1628	c.768A>G	c.(766-768)tcA>tcG	p.S256S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	256					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CGTCCTCCTCACTGAGGGAAG	0.512000													14	118					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47782730	47782730	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47782730T>G	ENST00000371856.2	-	3	419	c.9A>C	c.(7-9)caA>caC	p.Q3H	STAU1_ENST00000360426.4_Intron|STAU1_ENST00000340954.7_Intron|STAU1_ENST00000371792.1_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000371828.3_Intron|STAU1_ENST00000371802.1_Intron	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	3						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCACTTGAACTTGAGACATGG	0.413000													18	30					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959215	10959215	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10959215A>G	ENST00000240615.2	-	1	677	c.365T>C	c.(364-366)cTg>cCg	p.L122P		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	122					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCCACTTCAGCCAGAGAAA	0.423000													4	50					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457658	107457658	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107457658C>T	ENST00000318763.5	+	1	999	c.956C>T	c.(955-957)cCc>cTc	p.P319L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATGTTAAATCCCATCATCTAT	0.393000													19	40					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1720551	1720551	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1720551A>C	ENST00000378609.4	-	10	1188	c.857T>G	c.(856-858)cTt>cGt	p.L286R		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	286					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTACCCAGCAAGGAGGAGGCG	0.557000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	85					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800829	27800829	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27800829A>T	ENST00000408964.2	+	1	1441	c.1390A>T	c.(1390-1392)Acc>Tcc	p.T464S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	464										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCAGGGACAACCCCAGGACC	0.468000													14	30					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96639302	96639302	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:96639302T>G	ENST00000518156.2	+	3	1255	c.825T>G	c.(823-825)taT>taG	p.Y275*	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.Y147*|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Nonsense_Mutation_p.Y247*			P56179	DLX6_HUMAN	distal-less homeobox 6	157					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGCCTGGCTATTCTCACTGGT	0.587000													7	16					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179494559	179494559	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179494559G>A	ENST00000367618.3	+	22	2974	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	863	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACTTCAGGAGGAAAATAAAGA	0.343000													9	13					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610527	206610527	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206610527C>T	ENST00000360409.3	+	10	2490	c.1699C>T	c.(1699-1701)Ccg>Tcg	p.P567S	NRP2_ENST00000412873.2_Missense_Mutation_p.P567S|NRP2_ENST00000357785.5_Missense_Mutation_p.P567S|NRP2_ENST00000540178.1_Missense_Mutation_p.P567S|NRP2_ENST00000357118.4_Missense_Mutation_p.P567S|NRP2_ENST00000272849.3_Missense_Mutation_p.P567S|NRP2_ENST00000540841.1_Missense_Mutation_p.P567S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	567	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGACCCCATTCCGGCACAGTA	0.597000													26	9					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39494811	39494811	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39494811C>T	ENST00000265707.5	+	8	662	c.617C>T	c.(616-618)gCt>gTt	p.A206V	ADAM18_ENST00000379866.1_Intron|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	206	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAAATGATGGCTGTAACACAA	0.269000													5	38					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848501	73848501	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73848501G>A	ENST00000523207.1	+	3	1499	c.911G>A	c.(910-912)cGa>cAa	p.R304Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	304					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATCTTCCGAATCATGCGC	0.532000													34	29					0	0	1	0	0
TCP10L	140290	broad.mit.edu	37	21	33951032	33951032	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:33951032G>A	ENST00000300258.3	-	4	583	c.470C>T	c.(469-471)tCg>tTg	p.S157L	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GTTAGATGACGATCTTTGTCC	0.458000													65	81					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148346687	148346687	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:148346687A>C	ENST00000369202.1	-	2	267	c.70T>G	c.(70-72)Ttg>Gtg	p.L24V	NBPF20_ENST00000414710.2_Missense_Mutation_p.L24V					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TGGGGGCGCAATTTCTCGTTG	0.512000													27	168					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583244	24583244	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24583244T>G	ENST00000319715.4	+	18	5289	c.4857T>G	c.(4855-4857)agT>agG	p.S1619R	RBBP6_ENST00000381039.3_Missense_Mutation_p.S779R|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1585R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1619					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCCAGTTAAGTCATTCCTCTA	0.373000													5	60					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27436218	27436218	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27436218G>A	ENST00000263980.3	-	3	1439	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Silent_p.I288I	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	288					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGATGTCCACGATGCCCACGT	0.632000													30	162					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216052310	216052310	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:216052310G>A	ENST00000366943.2	-	42	8740	c.8354C>T	c.(8353-8355)cCt>cTt	p.P2785L	USH2A_ENST00000307340.3_Missense_Mutation_p.P2785L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2785	Fibronectin type-III 14.				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)		ATTAGTGAAAGGAATCAGATG	0.443000										HNSCC(13;0.011)			51	71					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286954	130286954	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130286954A>G	ENST00000358511.6	+	5	1938	c.1907A>G	c.(1906-1908)gAa>gGa	p.E636G	COL6A6_ENST00000453409.2_Missense_Mutation_p.E636G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	636	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATAGGACCTGAAAACTTCAGC	0.418000													17	81					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135365	156135365	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:156135365C>T	ENST00000329476.3	+	2	763	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	NPY2R_ENST00000506608.1_Silent_p.L92L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	92					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.L92M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CATTGCCAATCTGGCTGTGGC	0.473000													17	21					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163074648	163074648	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163074648C>T	ENST00000188790.4	-	9	817	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	FAP_ENST00000443424.1_Missense_Mutation_p.E179K	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	204					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GCAAGCATTTCCTCTGAAAAA	0.289000													23	16					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033450	82033450	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:82033450C>T	ENST00000328945.5	-	3	575	c.448G>A	c.(448-450)Gat>Aat	p.D150N	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	150					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GAGTAGTGATCAGGGTGGAGG	0.507000													27	3					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6155094	6155094	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:6155094T>C	ENST00000306177.5	+	3	540	c.382T>C	c.(382-384)Tgt>Cgt	p.C128R		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	128					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGCACTGCAGTGTTTAACCTA	0.438000													12	58					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651043	142651043	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142651043C>T	ENST00000355265.2	-	9	1399	c.924_splice	c.e9-1	p.E309_splice	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	309					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGGCCATTTCCTTAGAGGAG	0.537000													26	44					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6091023	6091023	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6091023G>A	ENST00000261405.5	-	42	7470	c.7216C>T	c.(7216-7218)Ccc>Tcc	p.P2406S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2406					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TACCCAAGGGGACAGCTCACT	0.562000													44	66					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982235	118982235	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:118982235C>T	ENST00000328252.3	+	5	2307	c.1938C>T	c.(1936-1938)tcC>tcT	p.S646S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	646					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTACGGACTCCTTCACGCCCA	0.607000													71	36					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657380	143657380	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143657380C>T	ENST00000392899.1	+	1	354	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTCCCTGGCCTTGGGTGGG	0.532000													57	58					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16263758	16263758	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16263758A>G	ENST00000375759.3	+	12	10331	c.10127A>G	c.(10126-10128)cAg>cGg	p.Q3376R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3376	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCTCGGTCAGCCCGGCCAG	0.682000													10	124					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39888451	39888451	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39888451A>C	ENST00000564288.1	+	60	16805	c.16028A>C	c.(16027-16029)aAg>aCg	p.K5343T	MACF1_ENST00000539005.1_Missense_Mutation_p.K3260T|MACF1_ENST00000289893.4_Missense_Mutation_p.K3783T|MACF1_ENST00000317713.7_Missense_Mutation_p.K3281T|MACF1_ENST00000361689.2_Missense_Mutation_p.K3281T|MACF1_ENST00000372915.3_Missense_Mutation_p.K5348T|MACF1_ENST00000567887.1_Missense_Mutation_p.K5380T|MACF1_ENST00000545844.1_Missense_Mutation_p.K3281T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5348					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTGTGGGAAGTTTCAAGAT	0.443000													7	133					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226156	79226156	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79226156T>G	ENST00000374759.3	-	13	2167	c.1784A>C	c.(1783-1785)gAc>gCc	p.D595A	SLC38A10_ENST00000288439.5_Missense_Mutation_p.D595A	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	595					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCCCCAGGTCCTCCTTTGC	0.647000													3	50					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220476726	220476726	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220476726C>T	ENST00000456909.1	+	19	2475	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	STK11IP_ENST00000295641.10_Silent_p.F806F			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	806					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGGCTCTTCCTGGATGTTG	0.657000													4	3					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067583	190067583	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:190067583A>C	ENST00000367462.3	-	8	2097	c.1866T>G	c.(1864-1866)ttT>ttG	p.F622L	FAM5C_ENST00000534846.1_Missense_Mutation_p.F520L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		622						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTACTGTCTCAAAAAATGTCT	0.443000													12	254					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862639	10862639	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10862639G>A	ENST00000559480.1	+	0	18																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGAATTGGAGGATCCTGTTTT	0.498000													75	261					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113670619	113670619	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113670619G>A	ENST00000263326.3	+	1	72	c.30G>A	c.(28-30)gtG>gtA	p.V10V	IL37_ENST00000352179.3_Silent_p.V10V|IL37_ENST00000349806.3_Silent_p.V10V|IL37_ENST00000353225.3_Silent_p.V10V	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	10					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ACTCAGGAGTGAAAATGGGCT	0.438000													32	18					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5754839	5754839	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:5754839A>C	ENST00000414202.2	+	15	1793		c.e15-1		KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432							integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ttttattttaaGGAGCAAAAT	0.294000													10	29					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15405186	15405186	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:15405186A>C	ENST00000342526.3	-	12	1385	c.1216T>G	c.(1216-1218)Ttt>Gtt	p.F406V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	406					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AGGTGACCAAATCGGTACAGC	0.403000													6	40					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562590	140562590	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140562590C>T	ENST00000361016.2	+	1	1611	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		152	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTGAGTTCCCTCTGAATC	0.393000													7	16					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115350	158115350	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:158115350C>T	ENST00000259056.4	+	1	1241	c.756C>T	c.(754-756)gcC>gcT	p.A252A		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	252					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTGGGGAAGCCATGGCCTTAA	0.463000													24	23					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35243540	35243540	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:35243540G>A	ENST00000360310.1	-	19	3557	c.2990C>T	c.(2989-2991)gCc>gTc	p.A997V	BAZ1A_ENST00000358716.4_Missense_Mutation_p.A965V|BAZ1A_ENST00000382422.2_Missense_Mutation_p.A997V	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	997					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AACCTTGATGGCTCCTAATGT	0.348000													4	21					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172581372	172581372	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:172581372A>C	ENST00000231668.9	+	4	458	c.354A>C	c.(352-354)caA>caC	p.Q118H	BNIP1_ENST00000352523.6_Missense_Mutation_p.Q118H|BNIP1_ENST00000351486.5_Missense_Mutation_p.Q75H|BNIP1_ENST00000393770.4_Missense_Mutation_p.Q75H	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	75					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAGAAACAACTTCTACTCC	0.458000													5	11					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9258881	9258881	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:9258881A>G	ENST00000318602.7	-	10	1362	c.1055T>C	c.(1054-1056)tTt>tCt	p.F352S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	352				LSFV -> ACCS (in Ref. 6; AAH26246).	blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CACTTTCACAAATGAGAGTTT	0.398000													17	69					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746243	37746243	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37746243C>T	ENST00000539465.1	+	16	4807	c.4214C>T	c.(4213-4215)tCc>tTc	p.S1405F	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1405F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1405						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGTACTGCTCCAGGGCACTG	0.607000													12	18					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099984	50099984	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50099984C>T	ENST00000418929.2	+	4	2404	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	489							DNA binding	p.Q800fs*26(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCTCCGCCTCCCCCCCAGCT	0.721000													33	13					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102609723	102609723	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:102609723A>C	ENST00000330847.1	+	6	1536	c.1492A>C	c.(1492-1494)Aac>Cac	p.N498H	NR4A3_ENST00000395097.2_Missense_Mutation_p.N487H			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	487					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCCAGGTCAAACACTGCTGA	0.463000			T	EWSR1	extraskeletal myxoid chondrosarcoma								27	94					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196762413	196762413	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196762413G>A	ENST00000312428.6	-	29	4725	c.4625C>T	c.(4624-4626)tCc>tTc	p.S1542F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1542					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAATCATGGGATAAAAATTT	0.289000													23	15					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723717	48723717	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48723717G>A	ENST00000335017.1	+	1	955	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	215					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AGCGGCAGACGAGGGGCGAGG	0.662000													12	22					0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139846844	139846844	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139846844C>T	ENST00000371633.3	+	1	65	c.65C>T	c.(64-66)cCa>cTa	p.P22L		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	22					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCCCAGACCCCAACCCCCCTG	0.637000													5	5					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852861	22852861	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22852861T>G	ENST00000404138.1	+	19	4203	c.3692T>G	c.(3691-3693)gTg>gGg	p.V1231G	ZBTB40_ENST00000374651.4_Missense_Mutation_p.V1119G|ZBTB40_ENST00000375647.4_Missense_Mutation_p.V1231G	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1231					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GATGGCACAGTGACGCTGATC	0.602000													23	137					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999902	218999902	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:218999902G>A	ENST00000318507.2	+	3	805	c.378G>A	c.(376-378)aaG>aaA	p.K126K		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	126					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CACTCCTGAAGGAAGTCAACT	0.557000													40	11					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579463	58579463	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58579463C>T	ENST00000506786.1	+	5	2039	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	ZNF135_ENST00000511556.1_Silent_p.L549L|ZNF135_ENST00000401053.4_Silent_p.L561L|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.L537L|ZNF135_ENST00000439855.2_Silent_p.L537L			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	549					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TTGCTCCCCTCATTCAGCATC	0.547000													72	46					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44365293	44365293	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44365293C>T	ENST00000262915.3	+	10	1022	c.845C>T	c.(844-846)gCc>gTc	p.A282V	ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.A267V|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.A213V|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.A251V|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.A182V|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.A213V|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.A213V|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.A197V|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.A213V|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.A197V|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.A228V|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.A251V|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.A182V|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.A282V|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.A267V	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	213					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCCGAGGGCGCCATGCAGCGG	0.552000													48	48					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94548950	94548950	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:94548950A>G	ENST00000370225.3	-	7	902	c.816T>C	c.(814-816)tcT>tcC	p.S272S	ABCA4_ENST00000535735.1_Silent_p.S272S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	272					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCCTCCCCAAGATCTCAGAT	0.348000													13	232					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42111098	42111098	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42111098A>G	ENST00000457542.2	+	20	2520	c.2234A>G	c.(2233-2235)cAg>cGg	p.Q745R	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.Q584R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.Q628R|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.Q751R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.Q745R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	751										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CGCCAGCGTCAGCGGGGCGGC	0.597000													13	13					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813375	24813375	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24813375C>T	ENST00000221169.5	-	0	1249							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGAGATTTCGTCCATCAAG	0.627000													16	20					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183646571	183646571	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183646571A>C	ENST00000334444.6	-	27	4137	c.3897T>G	c.(3895-3897)atT>atG	p.I1299M	ABCC5_ENST00000265586.6_Missense_Mutation_p.I1256M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1299	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGCATCCCAAATCTGGTCTT	0.507000													5	132					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716590	40716590	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40716590C>T	ENST00000393818.2	+	3	1498	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	COASY_ENST00000421097.2_Missense_Mutation_p.P348S|COASY_ENST00000590958.1_Missense_Mutation_p.P377S|COASY_ENST00000420359.1_Missense_Mutation_p.P348S|COASY_ENST00000449624.1_Missense_Mutation_p.P53S	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	348	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GCTTCGGCCTCCATATGTAAG	0.577000													17	43					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152675941	152675941	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:152675941G>A	ENST00000367255.5	-	67	11380	c.10779C>T	c.(10777-10779)ttC>ttT	p.F3593F	SYNE1_ENST00000423061.1_Silent_p.F3600F|SYNE1_ENST00000265368.4_Silent_p.F3593F|SYNE1_ENST00000341594.5_Silent_p.F3564F|SYNE1_ENST00000448038.1_Silent_p.F3600F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3593					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACGTTATTGAACTGAGTTC	0.507000										HNSCC(10;0.0054)			57	4					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179252196	179252196	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179252196G>A	ENST00000389805.4	+	5	902	c.724G>A	c.(724-726)Gag>Aag	p.E242K	SQSTM1_ENST00000360718.5_Missense_Mutation_p.E158K|SQSTM1_ENST00000510187.1_Missense_Mutation_p.E242K|SQSTM1_ENST00000402874.3_Missense_Mutation_p.E158K|SQSTM1_ENST00000376929.3_Missense_Mutation_p.E158K	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	242					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACGTTGGGGAGAGTGTGGC	0.468000													18	24					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20407340	20407340	+	RNA	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:20407340A>G	ENST00000580113.1	-	0	299																											CACCTTGTCCAGGTAGGAGGC	0.612000													26	123					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33205020	33205020	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:33205020T>G	ENST00000280979.4	+	11	3474	c.3304T>G	c.(3304-3306)Ttc>Gtc	p.F1102V	AKAP6_ENST00000557272.1_Missense_Mutation_p.F1102V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1102					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCTTTTCATCTTCAATTCCTG	0.393000													16	43					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070153	197070153	+	Missense_Mutation	SNP	C	C	T	rs141485415	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197070153C>T	ENST00000367409.4	-	18	8484	c.8228G>A	c.(8227-8229)cGa>cAa	p.R2743Q	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2743	IQ 31.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R2743Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAATAGTTCGTACAGATTT	0.333000													6	26					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630334	32630334	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:32630334C>T	ENST00000242310.4	-	1	5333	c.5244G>A	c.(5242-5244)gaG>gaA	p.E1748E		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1748					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)		CAGTTCCTTCCTCTTCATCTG	0.483000													91	58					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449476	102449476	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102449476T>C	ENST00000360184.4	+	6	1246	c.1082T>C	c.(1081-1083)tTc>tCc	p.F361S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	361	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTGCCATTTTCACACATTTG	0.418000													18	50					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278621	50278621	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50278621T>G	ENST00000216268.4	+	2	1788	c.1311T>G	c.(1309-1311)agT>agG	p.S437R		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	437						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGGCTGAGTCCTAGATTGT	0.552000													18	97					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792954	31792954	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:31792954C>T	ENST00000543095.2	-	24	3788	c.3604G>A	c.(3604-3606)Gat>Aat	p.D1202N	HEATR5A_ENST00000389961.3_Missense_Mutation_p.D1196N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D909N|HEATR5A_ENST00000439348.1_Missense_Mutation_p.D1196N	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1196							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGGCATCATCCCCTTTATCT	0.398000													31	18					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273215	125273215	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125273215C>T	ENST00000335302.5	+	1	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACCTGCTCATCATGCTGCTCA	0.572000													104	49					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675466	31675466	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31675466G>A	ENST00000503322.1	+	2	287	c.284G>A	c.(283-285)gGa>gAa	p.G95E	LY6G6F_ENST00000556581.1_Missense_Mutation_p.G95E|LY6G6F_ENST00000375832.4_Missense_Mutation_p.G95E|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							TGGTTGGAGGGATCCAAAGAG	0.572000													13	19					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647797	10647797	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:10647797C>T	ENST00000547195.1	-	8	1311	c.811G>A	c.(811-813)Ggg>Agg	p.G271R	MRVI1_ENST00000421747.1_Missense_Mutation_p.G353R|MRVI1_ENST00000552103.1_Missense_Mutation_p.G271R|MRVI1_ENST00000545852.1_Missense_Mutation_p.G47R|MRVI1_ENST00000527509.2_Missense_Mutation_p.G271R|MRVI1_ENST00000558540.1_Missense_Mutation_p.G47R|MRVI1_ENST00000436272.1_Missense_Mutation_p.G335R|MRVI1_ENST00000531107.1_Missense_Mutation_p.G354R|MRVI1_ENST00000534266.2_Missense_Mutation_p.G47R|MRVI1_ENST00000424001.1_Missense_Mutation_p.G47R|MRVI1_ENST00000423302.2_Missense_Mutation_p.G362R|MRVI1_ENST00000541483.1_Intron	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	335					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGGCCTCTCCCCTGGGAGGCT	0.692000													6	16					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522251	144522251	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144522251G>A	ENST00000262577.5	-	11	2806	c.2775C>T	c.(2773-2775)ccC>ccT	p.P925P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	925					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCGGACCCTGGGCTGGGCTC	0.687000													4	20					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671355	233671355	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233671355C>T	ENST00000373566.3	+	16	2057	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	GIGYF2_ENST00000409480.1_Silent_p.P620P|GIGYF2_ENST00000409451.3_Silent_p.P619P|GIGYF2_ENST00000373563.4_Silent_p.P598P|GIGYF2_ENST00000409547.1_Silent_p.P598P|GIGYF2_ENST00000409196.3_Silent_p.P592P|GIGYF2_ENST00000452341.2_Silent_p.P429P			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	598	Gln-rich.				cell death		protein binding	p.P619P(1)|p.P598P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTCCAGCTCCCCCTCCTCATA	0.428000													24	67					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474220	73474220	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73474220A>G	ENST00000252034.7	+	23	1818	c.1419A>G	c.(1417-1419)ttA>ttG	p.L473L	ELN_ENST00000380576.5_Silent_p.L454L|ELN_ENST00000320492.7_Silent_p.L392L|ELN_ENST00000414324.1_Silent_p.L449L|ELN_ENST00000380575.4_Silent_p.L444L|ELN_ENST00000380553.4_Silent_p.L337L|ELN_ENST00000320399.6_Silent_p.L473L|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000357036.5_Silent_p.L478L|ELN_ENST00000445912.1_Silent_p.L473L|ELN_ENST00000458204.1_Silent_p.L463L|ELN_ENST00000358929.4_Silent_p.L508L|ELN_ENST00000380584.4_Silent_p.L440L|ELN_ENST00000429192.1_Silent_p.L459L|ELN_ENST00000380562.4_Silent_p.L479L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	502	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTGCAGGGTTAGTTCCTGGTG	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						16	287					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396529	139396529	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139396529T>G	ENST00000277541.6	-	29	5471	c.5396A>C	c.(5395-5397)aAc>aCc	p.N1799T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1799					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCTGAAGCGTTCTTCAGGGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			19	47					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38423887	38423887	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38423887C>T	ENST00000373019.4	-	17	2432	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SF3A3_ENST00000448721.2_Missense_Mutation_p.E440K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	493					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCAGATCCTCGTATGTCTTC	0.423000													29	51					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30096455	30096455	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:30096455A>G	ENST00000380752.5	-	8	1574	c.1189_splice	c.e8+1	p.A396_splice		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	396					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTACTCACCAGCAACGGCAC	0.443000													16	208					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221200	43221200	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43221200A>G	ENST00000255226.6	+	8	1834	c.1018A>G	c.(1018-1020)Acc>Gcc	p.T340A	SLC14A2_ENST00000586448.1_Missense_Mutation_p.T340A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	340						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCTTCGAGACCATCTACAC	0.582000													5	14					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464078	21464078	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21464078T>G	ENST00000339374.6	+	11	1197	c.964T>G	c.(964-966)Ttg>Gtg	p.L322V	METTL17_ENST00000382985.4_Missense_Mutation_p.L322V|METTL17_ENST00000556670.2_Missense_Mutation_p.L322V|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	322					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GAAGTCACCTTTGGACCCTCG	0.453000													3	73					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660536	153660536	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153660536C>T	ENST00000368680.3	+	15	2728	c.2256C>T	c.(2254-2256)atC>atT	p.I752I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	752	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CAGAGATCATCGAGCGGGTGA	0.662000													44	61					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600429	56600429	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56600429G>A	ENST00000270459.3	-	3	230	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	38	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGCCAGCTGGGGACGTCGTCA	0.682000													3	13					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024602	71024602	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71024602T>C	ENST00000344526.5	+	3	822	c.633T>C	c.(631-633)tcT>tcC	p.S211S	C4orf40_ENST00000502294.1_Silent_p.S211S	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	211						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCACCCTTCTCCCTCTCTTG	0.488000													8	36					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37900842	37900842	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:37900842G>A	ENST00000309156.4	+	8	1095	c.838G>A	c.(838-840)Gag>Aag	p.E280K	GRB7_ENST00000394209.2_Missense_Mutation_p.E280K|GRB7_ENST00000309185.3_Missense_Mutation_p.E280K|GRB7_ENST00000394211.3_Missense_Mutation_p.E280K|GRB7_ENST00000445327.2_Missense_Mutation_p.E303K|GRB7_ENST00000394204.1_Missense_Mutation_p.E280K	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	280	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATGTGAACGAGTCCAACGT	0.597000													11	3					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140162	3140162	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3140162T>C	ENST00000252463.2	-	5	1195	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T288A|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.T31A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	370					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GAGGAGTGGGTCAGCAGGTGC	0.706000													25	61					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011992	138011992	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:138011992C>T	ENST00000252854.4	+	6	1559	c.1372C>T	c.(1372-1374)Ctc>Ttc	p.L458F	OLFM1_ENST00000371793.3_Missense_Mutation_p.L476F|OLFM1_ENST00000371796.3_Missense_Mutation_p.L449F	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	476	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACGTGACCCTCTTCCACGT	0.577000													30	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611156	179611156	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179611156A>C	ENST00000360870.5	-	46	16193	c.15971T>G	c.(15970-15972)tTt>tGt	p.F5324C	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8836	Ig-like 34.						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)			CTGCTTCTCAAATTCTTTAAC	0.363000													19	9					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845321	101845321	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:101845321C>T	ENST00000360264.3	+	18	2797	c.2777C>T	c.(2776-2778)cCg>cTg	p.P926L	CUX1_ENST00000549414.2_Missense_Mutation_p.P893L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P813L|CUX1_ENST00000550008.2_Missense_Mutation_p.P859L|CUX1_ENST00000556210.1_Missense_Mutation_p.P757L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P915L|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	915					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P915L(1)		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						CCATCCTCCCCGATCGTGCCC	0.657000													57	60					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137484287	137484287	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:137484287T>C	ENST00000306087.1	+	1	709	c.661T>C	c.(661-663)Ttc>Ctc	p.F221L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	221					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CTACATCCTCTTCCCAGGCAT	0.647000													18	73					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13845068	13845068	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13845068A>C	ENST00000265104.4	-	32	5253	c.5149T>G	c.(5149-5151)Ttt>Gtt	p.F1717V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1717	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACGAAGAAAAACCGAGGAAAG	0.433000									Kartagener syndrome				16	87					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855807	79855807	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79855807C>T	ENST00000338682.3	-	5	704	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	11						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAAGGAATTTCCTTCACTTGA	0.453000													14	6					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153790	45153790	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:45153790C>T	ENST00000296129.1	-	3	574	c.440G>A	c.(439-441)aGg>aAg	p.R147K	CDCP1_ENST00000425231.2_Missense_Mutation_p.R147K	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	147						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ACCGATCTGCCTCAGGCGAGG	0.547000													101	50					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23743876	23743876	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23743876A>G	ENST00000450454.2	-	4	352	c.246T>C	c.(244-246)ccT>ccC	p.P82P	TCEA3_ENST00000461794.1_Silent_p.P45P|TCEA3_ENST00000374601.3_Silent_p.P82P	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	82	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTGGGGGTCCAGGGGAGTCTG	0.512000													18	37					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926038	31926038	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31926038T>C	ENST00000300870.10	+	4	677	c.468T>C	c.(466-468)tgT>tgC	p.C156C	ZNF267_ENST00000394846.3_3'UTR|RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	156					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TTTCTTCTTGTGCCAAAAGCT	0.318000													4	33					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072302	63072302	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:63072302C>T	ENST00000332793.6	+	9	1541	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	513						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTATTGTCTTCCTCCTACCAG	0.448000													46	51					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91420201	91420201	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91420201T>C	ENST00000268171.3	+	5	727	c.448T>C	c.(448-450)Tcc>Ccc	p.S150P		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	150					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATTGTGGTCTCCATTCTGGA	0.602000													16	119					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161133674	161133674	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161133674T>G	ENST00000368002.3	+	9	1498	c.1121T>G	c.(1120-1122)tTt>tGt	p.F374C	USP21_ENST00000368001.1_Missense_Mutation_p.F374C|USP21_ENST00000289865.8_Missense_Mutation_p.F374C|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	374					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTAGACCTGTTTGTGGGCCAG	0.502000													17	98					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871682	13871682	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13871682G>A	ENST00000265104.4	-	23	3693	c.3589C>T	c.(3589-3591)Ctg>Ttg	p.L1197L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1197	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTGTACAGAGCAATGGAA	0.383000									Kartagener syndrome				48	30					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188843	41188843	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41188843G>A	ENST00000252891.4	-	4	447	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	NUMBL_ENST00000540131.1_Missense_Mutation_p.R53W|NUMBL_ENST00000598779.1_Missense_Mutation_p.R53W	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	94	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.R94W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGCATTCCCCGGGACTCCTCT	0.592000													47	59					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857790	90857790	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:90857790G>A	ENST00000394980.1	+	7	3278	c.2959G>A	c.(2959-2961)Gat>Aat	p.D987N	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.D987N|MMRN1_ENST00000508372.1_Missense_Mutation_p.D729N			Q13201	MMRN1_HUMAN	multimerin 1	987					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTGTTGTATAGATCGATCGTT	0.358000													45	26					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26903816	26903816	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:26903816C>T	ENST00000231021.4	-	6	1101	c.929G>A	c.(928-930)gGa>gAa	p.G310E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	310	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGCACCATCTCCTTCAGCAAT	0.428000													171	57					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5739354	5739354	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5739354T>G	ENST00000381624.3	+	7	538	c.477T>G	c.(475-477)gtT>gtG	p.V159V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	159						integral to membrane											GTAATTTGGTTTTTGCATATT	0.333000													20	44					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762678	24762678	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24762678G>A	ENST00000376451.2	+	2	782	c.522G>A	c.(520-522)agG>agA	p.R174R	KIAA1217_ENST00000396445.1_Silent_p.R174R|KIAA1217_ENST00000376462.1_Silent_p.R376R|KIAA1217_ENST00000376452.3_Silent_p.R456R|KIAA1217_ENST00000307544.6_Silent_p.R174R|KIAA1217_ENST00000396446.1_Silent_p.R174R|KIAA1217_ENST00000458595.1_Silent_p.R456R|KIAA1217_ENST00000430453.2_Silent_p.R377R|KIAA1217_ENST00000376454.3_Silent_p.R456R			Q5T5P2	SKT_HUMAN	KIAA1217	456					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAATCAAGGAAATATCCGG	0.502000													43	42					0	0	1	0	0
FAM210B	116151	broad.mit.edu	37	20	54941180	54941180	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54941180T>C	ENST00000371384.3	+	3	507	c.416T>C	c.(415-417)gTa>gCa	p.V139A		NM_080821.2	NP_543011.2	Q96KR6	CT108_HUMAN	family with sequence similarity 210, member B	139	DUF1279.					integral to membrane											GAGTCCCTGGTACAGTCAAAA	0.473000													9	49					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74397134	74397134	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74397134G>A	ENST00000319380.7	-	6	916	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	284							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGCTGAGCACGGGCTTGACAC	0.587000													20	1					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238672405	238672405	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238672405C>T	ENST00000244815.5	+	10	2217	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	LRRFIP1_ENST00000289175.6_Silent_p.T627T|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Silent_p.T683T	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	683					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGATGACACCGTTCAATCAT	0.443000													12	27					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12819255	12819255	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12819255A>C	ENST00000288048.5	+	3	454	c.238A>C	c.(238-240)Aaa>Caa	p.K80Q	C1orf158_ENST00000376210.3_Missense_Mutation_p.K42Q	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	80										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACCTTACAAACACCTGAT	0.582000													17	305					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207621671	207621671	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207621671C>T	ENST00000374412.3	-	4	639	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	MDH1B_ENST00000392214.2_Missense_Mutation_p.E122K|MDH1B_ENST00000449792.1_Missense_Mutation_p.E24K|MDH1B_ENST00000454776.2_Missense_Mutation_p.E122K	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	122					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGGGCTTCTTCCTCCTGCTCT	0.418000													21	32					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638020	234638020	+	Missense_Mutation	SNP	C	C	T	rs143192251		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234638020C>T	ENST00000482026.1	+	1	267	c.248C>T	c.(247-249)tCg>tTg	p.S83L	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATGCCATTTCGTGGACCCAG	0.468000													33	77					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029806	219029806	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219029806G>A	ENST00000295683.2	-	2	249	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	43					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CATAGGCGATGATCACAACAT	0.498000													35	72					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043852	7043852	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:7043852C>T	ENST00000310085.4	-	1	876	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	272										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GCCTCTGCGCCCCGGTCAGCC	0.642000													48	9					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749181	33749181	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33749181G>A	ENST00000394562.1	-	4	1390	c.867C>T	c.(865-867)ttC>ttT	p.F289F	SLFN12_ENST00000304905.5_Silent_p.F289F|SLFN12_ENST00000452764.3_Silent_p.F289F			Q8IYM2	SLN12_HUMAN	schlafen family member 12	289							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATACTCCAAGGAATTTGCATG	0.418000													17	35					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5348782	5348782	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5348782T>G	ENST00000399537.4	-	28	8954	c.8606A>C	c.(8605-8607)aAg>aCg	p.K2869T	TNRC18_ENST00000430969.1_Missense_Mutation_p.K2869T			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2869	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGGAACTGCTTGCCCGGGCT	0.677000													4	32					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165503	118165503	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:118165503A>G	ENST00000369448.3	+	2	260	c.13A>G	c.(13-15)Agc>Ggc	p.S5G		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	5										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCAGAGGAGAGCAGCTGTAC	0.537000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			9	39					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400119	89400119	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:89400119G>A	ENST00000439576.2	+	12	4677	c.4303G>A	c.(4303-4305)Gga>Aga	p.G1435R	ACAN_ENST00000561243.1_Missense_Mutation_p.G1435R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1435R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1435R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1435					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTTCCTTCTGGAGAAGTTCT	0.542000													116	83					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211523353	211523353	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:211523353G>T	ENST00000233072.5	+	31	3893	c.3697G>T	c.(3697-3699)Gct>Tct	p.A1233S	CPS1_ENST00000451903.2_Missense_Mutation_p.A782S|CPS1_ENST00000430249.2_Missense_Mutation_p.A1239S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1233	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GATTGCAAAGGCTTTTGCCAT	0.408000													17	13					7.45023e-12	7.4937e-12	1	1	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					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	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													5	337					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201302	166201302	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:166201302A>G	ENST00000375437.2	+	16	3090	c.2800A>G	c.(2800-2802)Atc>Gtc	p.I934V	SCN2A_ENST00000357398.3_Missense_Mutation_p.I934V|SCN2A_ENST00000283256.6_Missense_Mutation_p.I934V|SCN2A_ENST00000375427.2_Missense_Mutation_p.I934V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	934					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCCTTCCTGATCGTGTTCCG	0.493000													43	89					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172306	21172306	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21172306C>T	ENST00000421593.2	+	2	210	c.210C>T	c.(208-210)ttC>ttT	p.F70F	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CACATTTCTTCATGGGATAGT	0.318000													16	38					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70392685	70392685	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:70392685T>G	ENST00000264434.2	-	7	1606	c.1227A>C	c.(1225-1227)aaA>aaC	p.K409N	C2orf42_ENST00000420306.1_Missense_Mutation_p.K409N	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	409										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GGAGCCGTTTTTTTGCACTTC	0.413000													6	50					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832250	72832250	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72832250G>A	ENST00000335464.5	+	10	1077	c.915G>A	c.(913-915)agG>agA	p.R305R	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.R305R	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	305						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCTCACAAGGCTGGTGTTCC	0.597000													95	4					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105169532	105169532	+	Missense_Mutation	SNP	A	A	T	rs111421816		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105169532A>T	ENST00000369797.3	+	8	1041	c.947A>T	c.(946-948)aAg>aTg	p.K316M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	316	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGGATCCCAAGAAAGCTGGA	0.413000													5	51					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651489	15651489	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15651489G>A	ENST00000269703.2	+	8	1099	c.900G>A	c.(898-900)ggG>ggA	p.G300G	CYP4F22_ENST00000601005.2_Silent_p.G300G	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	300						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCAAGCAGGGGAAGACCTTGG	0.632000													17	61					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28802570	28802570	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28802570A>C	ENST00000422425.2	+	23	1639	c.1595A>C	c.(1594-1596)gAt>gCt	p.D532A	PLB1_ENST00000327757.5_Missense_Mutation_p.D521A|PLB1_ENST00000329020.6_Missense_Mutation_p.D209A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	521	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTCTGCAATGATCTGGTAGGT	0.473000													13	62					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48657218	48657218	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48657218T>G	ENST00000263274.7	-	6	796	c.377A>C	c.(376-378)aAg>aCg	p.K126T	LIG1_ENST00000427526.2_Missense_Mutation_p.K96T|LIG1_ENST00000536218.1_Intron|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	126					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGGGAGCTGCTTCCGAGCTGG	0.597000								Nucleotide excision repair (NER)					6	30					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79170508	79170508	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79170508A>C	ENST00000269392.4	-	15	2148	c.1901T>G	c.(1900-1902)aTt>aGt	p.I634S	AZI1_ENST00000374782.3_Missense_Mutation_p.I631S|AZI1_ENST00000575907.1_Missense_Mutation_p.I634S|AZI1_ENST00000450824.2_Missense_Mutation_p.I631S	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	634					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCTGGTCAATGAAGGCCAA	0.682000													6	11					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370395	25370395	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25370395G>A	ENST00000255324.5	+	11	1413	c.1361G>A	c.(1360-1362)aGg>aAg	p.R454K	RNF17_ENST00000255325.5_Missense_Mutation_p.R455K|RNF17_ENST00000381921.1_Missense_Mutation_p.R454K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	454					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTTGCAATAGGAGTTCACAC	0.323000													42	32					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44137312	44137312	+	Silent	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44137312C>G	ENST00000372396.3	+	11	1634	c.1500C>G	c.(1498-1500)gtC>gtG	p.V500V		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	500					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GACGCCTTGTCTTCTCAGGCT	0.483000													22	78					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486596	76486596	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:76486596C>T	ENST00000307431.8	+	9	1645	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	CNTNAP4_ENST00000476707.1_Silent_p.L424L|CNTNAP4_ENST00000478060.1_Silent_p.L348L|CNTNAP4_ENST00000377504.4_Silent_p.L372L|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	421	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L396L(1)|p.L348L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTATCCTCCTCTTTCTGAGTG	0.453000													45	2					0	0	1	0	0
GSTT2	2953	broad.mit.edu	37	22	24323187	24323187	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24323187T>A	ENST00000215780.5	+	2	211	c.161T>A	c.(160-162)cTg>cAg	p.L54Q	GSTT2_ENST00000402588.3_Missense_Mutation_p.L54Q	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	54	GST N-terminal.|Glutathione binding.					cytoplasm	glutathione transferase activity			lung(1)	1						CTGGGGAAACTGCCGACGCTC	0.547000													5	132					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152712494	152712494	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:152712494T>G	ENST00000367255.5	-	52	8523	c.7922A>C	c.(7921-7923)aAg>aCg	p.K2641T	SYNE1_ENST00000423061.1_Missense_Mutation_p.K2648T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K2641T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K2680T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K2648T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2641					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAATGGCCTTCACCCAGAA	0.552000										HNSCC(10;0.0054)			13	38					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42467090	42467090	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42467090A>T	ENST00000381668.5	-	26	2559	c.2328T>A	c.(2326-2328)gtT>gtA	p.V776V	ATP8A1_ENST00000264449.10_Silent_p.V761V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	776					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAAGAGGAGAAACCCTGAAAT	0.353000													14	5					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21529810	21529810	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:21529810T>C	ENST00000313654.9	+	71	9674	c.9433T>C	c.(9433-9435)Ttc>Ctc	p.F3145L	LAMA3_ENST00000399516.3_Missense_Mutation_p.F3089L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.F1536L|LAMA3_ENST00000587184.1_Missense_Mutation_p.F1480L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3145	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTCAAGCTTCGGGGTGTC	0.473000													50	46					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95556899	95556899	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95556899G>A	ENST00000526495.1	-	29	5996	c.5705C>T	c.(5704-5706)tCt>tTt	p.S1902F	DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.S1902F|DICER1_ENST00000343455.3_Missense_Mutation_p.S1902F|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.S1902F|DICER1_ENST00000556045.1_Missense_Mutation_p.S800F			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1902	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCTGCTGCAGATTTGGCAAT	0.448000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				52	159					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513035	70513035	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70513035C>T	ENST00000503640.1	-	1	383	c.328G>A	c.(328-330)Gag>Aag	p.E110K	UGT2A1_ENST00000514019.1_Missense_Mutation_p.E110K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E110K|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E110K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	110					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCATCTCCTGATAGAAT	0.418000													15	29					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111472	142111472	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142111472G>A	ENST00000390378.1	-	0	263																											TATAGTTAGGGAACTGGTGAC	0.517000													51	54					0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10539595	10539595	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10539595G>A	ENST00000240618.6	-	3	195	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.H19Y|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	19					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTATAATTATGAAATTCACTC	0.353000													7	10					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27773116	27773116	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:27773116G>A	ENST00000333743.6	+	9	1354	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	367					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATTCCTGAGCGAATAAGCCTA	0.383000													4	6					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843560	100843560	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100843560C>T	ENST00000223114.4	-	3	409	c.243G>A	c.(241-243)agG>agA	p.R81R	MOGAT3_ENST00000379423.3_Silent_p.R81R|MOGAT3_ENST00000440203.2_Silent_p.R81R	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	81					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGCCCGGTTCCTTATCCACT	0.557000													87	127					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752385	36752385	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36752385A>C	ENST00000354618.5	+	4	778	c.554A>C	c.(553-555)aAg>aCg	p.K185T	THRAP3_ENST00000469141.2_Missense_Mutation_p.K185T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	185	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTCTTCTAAGGATAGCCGG	0.532000			T	USP6	aneurysmal bone cysts								5	323					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153480	19153480	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:19153480T>G	ENST00000269214.5	-	4	2262	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	442					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATCATGTAGCTTTGTCCCTAA	0.323000													6	81					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795725	33795725	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:33795725A>T	ENST00000261326.5	+	8	1603	c.1582A>T	c.(1582-1584)Agc>Tgc	p.S528C		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	528					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGGCAGACGTAGCCTCTCGCC	0.602000													6	15					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222378	8222378	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8222378A>G	ENST00000361926.3	+	13	2197	c.2087A>G	c.(2086-2088)cAg>cGg	p.Q696R	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q696R|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	696					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTCCAGGCCCAGCAGGTTCCG	0.642000													11	79					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840637	1840637	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1840637T>C	ENST00000331238.5	-	2	497	c.479A>G	c.(478-480)cAc>cGc	p.H160R		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	160					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GTACTCGATGTGGTTGTCCTG	0.617000													9	56					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504252	39504252	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:39504252G>A	ENST00000518318.2	+	10	1977	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	POU6F2_ENST00000559001.1_Silent_p.E626E|POU6F2_ENST00000403058.1_Silent_p.E681E			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	681					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						TCCCTTTGGAGCCCTTAACAG	0.463000													12	11					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545958	11545958	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11545958C>T	ENST00000389362.4	-	3	1089	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGCTGCCTCCTTGTGGGGGT	0.607000													138	240					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46930089	46930089	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46930089C>T	ENST00000359759.4	+	39	4873	c.4852C>T	c.(4852-4854)Cgc>Tgc	p.R1618C	COL18A1_ENST00000355480.5_Missense_Mutation_p.R1383C|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1203C			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1618	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGCACCTTCCGCGCCTTCCT	0.711000													7	0					0	0	1	0	0
EPPIN	57119	broad.mit.edu	37	20	44174410	44174410	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44174410C>T	ENST00000336443.3	-	1	606	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	EPPIN_ENST00000354280.4_Splice_Site|EPPIN-WFDC6_ENST00000504988.1_Splice_Site|EPPIN_ENST00000555685.1_Splice_Site|EPPIN_ENST00000409554.1_Splice_Site					epididymal peptidase inhibitor																		GGACATCTCCCTAGGGAAAGA	0.463000													57	59					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766564	57766564	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:57766564C>T	ENST00000371030.2	+	1	490	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	164						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAAGCACATCCGGTCCCACAC	0.627000													10	178					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947984	150947984	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150947984A>G	ENST00000261800.5	-	1	521	c.509T>C	c.(508-510)gTg>gCg	p.V170A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	170	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCAGTCACCTTGCAGAT	0.522000													10	92					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163138138	163138138	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:163138138T>C	ENST00000313961.5	-	2	342	c.65A>G	c.(64-66)aAg>aGg	p.K22R	RGS5_ENST00000527988.1_Intron|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000367903.3_Missense_Mutation_p.K42R|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.K22R	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	22					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			AATTCCCAACTTGATCTTAAT	0.458000													23	91					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3251057	3251057	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3251057T>G	ENST00000541430.2	+	2	370	c.334T>G	c.(334-336)Ttg>Gtg	p.L112V	CELF5_ENST00000292672.2_Missense_Mutation_p.L112V	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	112	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCAGAAGACCTTGCCCGGAGT	0.607000													12	55					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995348	32995348	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:32995348C>T	ENST00000330953.5	+	2	602	c.434C>T	c.(433-435)tCc>tTc	p.S145F		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	145					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GCGGTGTTTTCCTTGAGGGCA	0.483000													36	106					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800502	153800502	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153800502T>A	ENST00000368655.4	-	2	565	c.322A>T	c.(322-324)Agt>Tgt	p.S108C		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	108						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGTCTAGCACTCATATCCACA	0.478000													23	79					0	0	1	0	0
MNX1	3110	broad.mit.edu	37	7	156798273	156798273	+	Missense_Mutation	SNP	A	A	G	rs112939037		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:156798273A>G	ENST00000252971.6	-	3	1447	c.1147T>C	c.(1147-1149)Tgc>Cgc	p.C383R	MNX1_ENST00000543409.1_Missense_Mutation_p.C171R|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	383					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCGAGGAGCAGTCGGAGGAG	0.741000													4	17					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884894	15884894	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15884894C>T	ENST00000285670.2	-	5	658	c.483_splice	c.e5-1	p.D162_splice	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Splice_Site_p.D94_splice	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	94					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTTCCTCATCCTTCAGAAAA	0.413000													23	73					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436237	158436237	+	Missense_Mutation	SNP	G	G	A	rs142494640		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158436237G>A	ENST00000289451.2	+	1	966	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGAAATAAGGAATTCAAATC	0.378000													46	50					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62555453	62555453	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:62555453C>T	ENST00000541428.1	-	10	857	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	ASPH_ENST00000522919.1_Missense_Mutation_p.E75K|ASPH_ENST00000356457.5_Missense_Mutation_p.E262K|ASPH_ENST00000517847.2_Missense_Mutation_p.E248K|ASPH_ENST00000517903.1_Missense_Mutation_p.E248K|ASPH_ENST00000518068.1_Missense_Mutation_p.E219K|ASPH_ENST00000379454.4_Missense_Mutation_p.E262K|ASPH_ENST00000522835.1_Missense_Mutation_p.E205K|ASPH_ENST00000445642.3_Missense_Mutation_p.E248K|ASPH_ENST00000523897.1_5'UTR	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	262	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AAACCTTGTTCCTCATAGACT	0.318000													4	12					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34190081	34190081	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34190081T>C	ENST00000311880.2	-	8	822	c.674A>G	c.(673-675)gAg>gGg	p.E225G	C17orf66_ENST00000592980.1_Missense_Mutation_p.E185G	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	225							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCATTTTTCTCCTTCAGCTG	0.537000													67	7					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68631861	68631861	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:68631861A>C	ENST00000423218.2	-	11	1348	c.1253T>G	c.(1252-1254)cTc>cGc	p.L418R	ITGA11_ENST00000315757.7_Missense_Mutation_p.L418R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	418					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATGGTTCTTGAGCTCCTCGGG	0.627000													3	7					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53277896	53277896	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:53277896C>T	ENST00000448904.2	-	7	946	c.836G>A	c.(835-837)gGa>gAa	p.G279E	LECT1_ENST00000377962.3_Missense_Mutation_p.G280E	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	280					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		p.G280E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ACAACAGATTCCTTCGTGATC	0.458000													23	62					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559964	33559964	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:33559964C>T	ENST00000228567.3	-	3	1133	c.837G>A	c.(835-837)agG>agA	p.R279R	SYT10_ENST00000535526.1_Silent_p.R98R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	279	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTTCTTTTTCCTATCTGGAA	0.358000													10	12					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47544311	47544311	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47544311C>T	ENST00000602212.1	+	10	1365	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	NPAS1_ENST00000602189.1_Missense_Mutation_p.S207F|NPAS1_ENST00000439365.2_Silent_p.V190V|NPAS1_ENST00000449844.2_Missense_Mutation_p.S382F			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	382	PAC.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TGGCTGCAGTCTGTGGCCACA	0.662000													10	9					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342489	36342489	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36342489T>G	ENST00000378910.5	-	2	143	c.144A>C	c.(142-144)tcA>tcC	p.S48S	NPHS1_ENST00000353632.6_Silent_p.S48S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	48	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCTCCACTGAGGCCCCCT	0.682000													7	30					0	0	1	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106552190	106552190	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:106552190T>A	ENST00000420470.2	+	4	788	c.644T>A	c.(643-645)aTc>aAc	p.I215N	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.I215N	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	215	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AGCCACTGTATCCAGTCCTTA	0.388000													11	66					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978694	119978694	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119978694C>T	ENST00000307142.4	+	5	3587	c.3391C>T	c.(3391-3393)Cct>Tct	p.P1131S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	782						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGACCAACTCCTTGGGAAGC	0.478000													21	41					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761150	27761150	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:27761150T>C	ENST00000261588.4	+	16	2888	c.2869T>C	c.(2869-2871)Tct>Cct	p.S957P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	957										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGATGGCTACTCTGGAGAGAC	0.587000													10	30					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135947060	135947060	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135947060C>T	ENST00000372080.4	+	11	2196	c.2180C>T	c.(2179-2181)cCt>cTt	p.P727L	CEL_ENST00000351304.7_Missense_Mutation_p.P658L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	724	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGGCCCCCCCTGTGCCCCCC	0.711000													10	18					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428761	142428761	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142428761G>A	ENST00000390400.2	+	0	141																											AGTTTTTCTGGAATGTGTCCA	0.433000													23	29					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10079017	10079017	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:10079017G>A	ENST00000382452.2	-	14	1907	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	WDR1_ENST00000382451.2_Missense_Mutation_p.P402L|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Missense_Mutation_p.P402L|WDR1_ENST00000499869.2_Missense_Mutation_p.P542L	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	542					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TTCATTGTCTGGGGACCAGGC	0.507000													68	5					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316821	78316821	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:78316821T>C	ENST00000409931.3	-	6	1218	c.1147A>G	c.(1147-1149)Agc>Ggc	p.S383G	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S383G			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	383						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGCCGGCTGCTTGTGAAATAC	0.542000													25	42					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970443	101970443	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:101970443G>A	ENST00000543253.1	+	5	1565	c.646G>A	c.(646-648)Gag>Aag	p.E216K	GPRASP2_ENST00000332262.5_Missense_Mutation_p.E216K|GPRASP2_ENST00000535209.1_Missense_Mutation_p.E216K	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGGGCCAGAGAGGAGGCCTC	0.552000													51	64					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232551	71232551	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71232551A>C	ENST00000359042.2	+	3	1124	c.930A>C	c.(928-930)aaA>aaC	p.K310N	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.K310N|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Missense_Mutation_p.K310N|C17orf80_ENST00000268942.8_Missense_Mutation_p.K310N|C17orf80_ENST00000426147.2_Missense_Mutation_p.K310N|C17orf80_ENST00000255557.4_Missense_Mutation_p.K310N	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	310						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GTGGGAGCAAAGGAAATGCAG	0.448000													11	21					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968812	5968812	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5968812T>G	ENST00000329564.6	+	1	243	c.236T>G	c.(235-237)cTc>cGc	p.L79R		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L79H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTCTGCCTCACTGTCATC	0.562000													5	162					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508132	106508132	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:106508132C>T	ENST00000359195.3	+	2	436	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PIK3CG_ENST00000440650.2_Silent_p.F42F|PIK3CG_ENST00000496166.1_Silent_p.F42F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	42					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATCGAGTTCGTGCTGCCCA	0.667000													51	49					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487437	3487437	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3487437G>A	ENST00000301744.4	-	4	497	c.262C>T	c.(262-264)Cct>Tct	p.P88S	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCTGGGTAAGGGACAAGGGGT	0.458000													25	47					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178987046	178987046	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178987046G>A	ENST00000377001.2	+	2	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RUFY1_ENST00000393438.2_Missense_Mutation_p.E3K|RUFY1_ENST00000437570.2_Missense_Mutation_p.E3K|RUFY1_ENST00000319449.4_Missense_Mutation_p.E111K			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	111					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGATGATGGAGGAGCGTGC	0.602000										HNSCC(44;0.11)			3	6					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229631686	229631686	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:229631686A>C	ENST00000261396.3	-	7	1019	c.928T>G	c.(928-930)Tgg>Ggg	p.W310G	NUP133_ENST00000537506.1_Missense_Mutation_p.W294G|NUP133_ENST00000366679.1_Missense_Mutation_p.W310G	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	310					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTATATCCCAACTGTATGCA	0.348000													9	39					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123332183	123332183	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123332183T>G	ENST00000275162.4	+	3	1778	c.443T>G	c.(442-444)aTt>aGt	p.I148S	CLVS2_ENST00000368438.1_Missense_Mutation_p.I2S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	148	CRAL-TRIO.				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						GAAGCCATGATTGAAGATCCT	0.413000													3	39					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287438	202287438	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202287438C>T	ENST00000367278.3	+	18	2096	c.2007C>T	c.(2005-2007)gtC>gtT	p.V669V	LGR6_ENST00000439764.2_Silent_p.V530V|LGR6_ENST00000255432.7_Silent_p.V617V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	669						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGTGCAGCGTCTCCGTCTCCT	0.701000													8	3					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281118	158281118	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:158281118G>C	ENST00000296526.7	+	13	2439	c.2114G>C	c.(2113-2115)aGg>aCg	p.R705T	GRIA2_ENST00000264426.9_Missense_Mutation_p.R705T|GRIA2_ENST00000393815.2_Missense_Mutation_p.R658T|GRIA2_ENST00000507898.1_Missense_Mutation_p.R658T|GRIA2_ENST00000449365.1_Missense_Mutation_p.R658T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	705					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTGTTTGTGAGGACTACGGCC	0.493000													26	9					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6263407	6263407	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:6263407A>G	ENST00000379775.4	+	9	1225	c.895A>G	c.(895-897)Agc>Ggc	p.S299G	PFKFB3_ENST00000379785.1_Missense_Mutation_p.S299G|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.S279G|PFKFB3_ENST00000540253.1_Missense_Mutation_p.S313G|PFKFB3_ENST00000317350.4_Missense_Mutation_p.S299G|PFKFB3_ENST00000360521.2_Missense_Mutation_p.S299G|PFKFB3_ENST00000379782.3_Missense_Mutation_p.S299G	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	299	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CGTGTGGACCAGCCAGCTGAA	0.627000													6	33					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27180344	27180344	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:27180344G>A	ENST00000380036.4	+	7	1450	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Intron	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	336	EGF-like 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGGATGGCAGGGGCTCCAGT	0.507000													5	19					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688695	137688695	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:137688695G>A	ENST00000371817.3	+	36	3260	c.2844_splice	c.e36-1	p.G949_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	949	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGTTCCCAGGGACCCAATGGA	0.607000													11	27					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098088	50098088	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50098088T>C	ENST00000418929.2	+	4	508	c.496T>C	c.(496-498)Tcg>Ccg	p.S166P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	579	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCAGTGCCCTCGTCCCTCAG	0.672000													4	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458387	179458387	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179458387C>T	ENST00000589042.1	-	298	58864	c.58640G>A	c.(58639-58641)gGa>gAa	p.G19547E	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10674E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10482E|TTN_ENST00000359218.5_Missense_Mutation_p.G10607E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17906E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16979E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17906	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G10482E(1)		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)			ATAATCTTTTCCTTCAAGTAG	0.363000													19	14					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50853016	50853016	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50853016C>T	ENST00000359139.3	+	5	844	c.450C>T	c.(448-450)atC>atT	p.I150I	PPP6R2_ENST00000395741.3_Silent_p.I150I|PPP6R2_ENST00000395744.3_Silent_p.I150I|PPP6R2_ENST00000216061.5_Silent_p.I150I	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	150						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						ACAAGTTCATCAGCCTGGTGT	0.592000													41	47					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093047	143093047	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:143093047T>A	ENST00000367603.2	-	5	3571	c.2829A>T	c.(2827-2829)cgA>cgT	p.R943R	HIVEP2_ENST00000012134.2_Silent_p.R943R|HIVEP2_ENST00000367604.1_Silent_p.R943R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	943					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TATCTGCAAGTCGCAGACGCT	0.572000													18	41					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769711	247769711	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247769711C>T	ENST00000320002.2	+	1	856	c.824C>T	c.(823-825)tCc>tTc	p.S275F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGTTTATCTCCCTCTTCTAC	0.443000													34	27					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229468	90229468	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:90229468C>T	ENST00000390278.2	+	0	308																											TCACTCTCACCATCATCAGCC	0.488000													24	88					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740964	140740964	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140740964C>T	ENST00000522605.1	+	1	1262	c.1262C>T	c.(1261-1263)aCc>aTc	p.T421I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATCTCACCATCACAGCC	0.507000													39	46					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134323106	134323106	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:134323106T>C	ENST00000508956.1	-	10	1295	c.1238A>G	c.(1237-1239)aAg>aGg	p.K413R	KY_ENST00000423778.2_Missense_Mutation_p.K434R|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	434						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATAATTGCACTTGAGCGTGTA	0.572000													10	37					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358333	16358333	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:16358333G>A	ENST00000375692.1	+	17	1879	c.1751G>A	c.(1750-1752)aGc>aAc	p.S584N	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S584N|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S584N|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S541N			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	584	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGGTGGAGAGCACAGGTGCC	0.607000													38	36					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557798	157557798	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157557798C>T	ENST00000271532.1	-	4	554	c.419G>A	c.(418-420)gGa>gAa	p.G140E	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	140	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAGAATGTTTCCATTCCAAGT	0.393000													8	10					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40724014	40724014	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40724014T>G	ENST00000372759.3	+	1	236	c.71T>G	c.(70-72)cTg>cGg	p.L24R	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	24						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-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;6.3e-18)			GGGGCCGTGCTGCTCTTTTCC	0.637000													6	99					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873694	35873694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35873694G>A	ENST00000303115.3	+	5	779	c.650G>A	c.(649-651)tGg>tAg	p.W217*	IL7R_ENST00000506850.1_Nonsense_Mutation_p.W217*|IL7R_ENST00000343305.4_Nonsense_Mutation_p.W217*	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	217	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAAGGCTTCTGGAGTGAATGG	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						40	18					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680859	30680859	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30680859A>G	ENST00000376406.3	-	5	1507	c.860T>C	c.(859-861)gTg>gCg	p.V287A	MDC1_ENST00000376405.2_Missense_Mutation_p.V287A|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	287	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCCAGAATCACCCCAGCTGG	0.527000								Other conserved DNA damage response genes					11	123					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139257939	139257939	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:139257939G>A	ENST00000406875.3	-	15	3425	c.3331C>T	c.(3331-3333)Ctg>Ttg	p.L1111L	HIPK2_ENST00000428878.2_Silent_p.L1084L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1111	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTGGAGCCCAGGGCCGCCGGC	0.721000													28	22					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169227763	169227763	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:169227763T>C	ENST00000393743.3	-	5	664	c.373A>G	c.(373-375)Aga>Gga	p.R125G		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	125							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GATAAGCATCTCGAAAATGTT	0.388000													16	47					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267940	124267940	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:124267940T>G	ENST00000395571.3	-	3	864	c.247A>C	c.(247-249)Aat>Cat	p.N83H	ZHX1_ENST00000297857.2_Missense_Mutation_p.N83H|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.N83H|ZHX1_ENST00000522595.1_5'UTR	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	83					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTAAACATATTTAGATCTGGA	0.333000													7	33					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152773	58152773	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58152773C>T	ENST00000544273.1	+	5	1282	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF211_ENST00000391703.3_Missense_Mutation_p.H246Y|ZNF211_ENST00000240731.4_Missense_Mutation_p.H320Y|ZNF211_ENST00000254182.7_Missense_Mutation_p.H298Y|ZNF211_ENST00000347302.3_Missense_Mutation_p.H307Y|ZNF211_ENST00000299871.5_Missense_Mutation_p.H372Y|ZNF211_ENST00000420680.1_Missense_Mutation_p.H311Y|ZNF211_ENST00000541801.1_Missense_Mutation_p.H298Y			Q13398	ZN211_HUMAN	zinc finger protein 211	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGAGAGTTCATACTGGAGA	0.423000													39	80					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95790861	95790861	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:95790861G>A	ENST00000260766.3	+	2	692	c.58G>A	c.(58-60)Gtt>Att	p.V20I	PLCE1_ENST00000371380.2_Missense_Mutation_p.V20I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	20					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGAAAAGTGGTTTCTGCCCA	0.418000													42	3					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766051	43766051	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43766051T>C	ENST00000244293.7	-	3	736	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.S224G|PSG9_ENST00000270077.3_Missense_Mutation_p.S224G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	224	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGACTGGCACTCACTGGGTTC	0.507000													9	413					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182872015	182872015	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182872015G>A	ENST00000265598.3	-	2	469	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	LAMP3_ENST00000466939.1_Missense_Mutation_p.H48Y	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	72					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AAGGTGATATGACCATCCATG	0.463000													151	68					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:136599532C>T	ENST00000531224.1	-	4	739	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000													24	106					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43546817	43546817	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:43546817T>G	ENST00000395891.1	+	22	4318	c.3713T>G	c.(3712-3714)cTg>cGg	p.L1238R	HECW1_ENST00000453890.1_Missense_Mutation_p.L1204R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1238					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACAGAAAACTGGAAGCCAAA	0.498000													13	79					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50265359	50265359	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50265359T>C	ENST00000246801.3	-	2	383	c.301A>G	c.(301-303)Aca>Gca	p.T101A		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	101							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCTTCCACTGTGGAGTCTGTC	0.632000													33	75					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941176	37941176	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:37941176A>G	ENST00000373087.6	+	2	195	c.79A>G	c.(79-81)Agc>Ggc	p.S27G		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	27					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACAGCCACAGCCGTCAGGG	0.627000													24	104					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1871721	1871721	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:1871721T>A	ENST00000518288.1	+	21	2582	c.2419T>A	c.(2419-2421)Tgc>Agc	p.C807S	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.C808S|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.C783S|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.C745S|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.C808S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	808					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGCTGCGGACTGCTGCAGAAT	0.423000													16	80					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434515	62434515	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62434515T>A	ENST00000532971.1	+	3	972	c.715T>A	c.(715-717)Tct>Act	p.S239T	C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	239						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GATTCAAGGCTCTCATTAAAG	0.498000													10	107					0	0	1	0	0
NKAIN4	128414	broad.mit.edu	37	20	61880175	61880175	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61880175G>A	ENST00000370316.3	-	3	354	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	NKAIN4_ENST00000370307.2_Missense_Mutation_p.L27F|NKAIN4_ENST00000370313.1_Missense_Mutation_p.L27F	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	89						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ACCTTTAAGAGGCCACCGACT	0.612000													12	17					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172965456	172965456	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:172965456T>G	ENST00000234198.4	-	3	1163	c.802A>C	c.(802-804)Agc>Cgc	p.S268R	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTGCTCGGGCTGGAGCCCGAG	0.731000													4	6					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423378	107423378	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:107423378C>T	ENST00000409382.3	-	6	1956	c.1346G>A	c.(1345-1347)aGa>aAa	p.R449K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R449K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	449					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCACCTCTCTGCACATGGA	0.512000													5	13					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379409	121379409	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:121379409G>A	ENST00000297848.3	+	46	5347		c.e46-1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			attttaaaCAGGTCTAACTGG	0.383000													8	8					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948640	198948640	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:198948640T>C	ENST00000428675.1	+	2	797	c.399T>C	c.(397-399)cgT>cgC	p.R133R	PLCL1_ENST00000437704.2_Silent_p.R35R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	133	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTACAACCGTTTTTTCACTC	0.438000													4	34					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176943308	176943308	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176943308G>A	ENST00000507955.1	-	3	802	c.279C>T	c.(277-279)caC>caT	p.H93H	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	93					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCTCTTTAAGGTGCTGGTGCT	0.577000													37	75					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107395912	107395912	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:107395912A>C	ENST00000440859.2	+	5	883	c.416A>C	c.(415-417)aAa>aCa	p.K139T	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Missense_Mutation_p.K138T	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	139					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TTACATGAAAAAAAGGGAGAT	0.269000													6	97					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126408530	126408530	+	Missense_Mutation	SNP	G	G	A	rs149301924	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126408530G>A	ENST00000394329.3	+	16	12860	c.12847G>A	c.(12847-12849)Gat>Aat	p.D4283N	FAT4_ENST00000335110.5_Missense_Mutation_p.D2524N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4283	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D4226N(1)|p.D4283N(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTTACATCCGATGCAGGAAT	0.323000													31	20					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50119762	50119762	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50119762G>A	ENST00000376025.2	-	0	3325							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTACTTGCTGATGAGGTTTT	0.532000													14	2					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908214	48908214	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48908214C>T	ENST00000263269.3	+	3	777	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	230						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCGGGCGAGGCCGTGCTCAGT	0.697000													61	59					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322420	167322420	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167322420G>A	ENST00000409855.1	-	7	868	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	248					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AATATGCTCAGAAAAAACAGA	0.408000													10	31					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145040857	145040857	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:145040857G>A	ENST00000360771.4	-	3	329	c.214C>T	c.(214-216)Cct>Tct	p.P72S	GYPA_ENST00000535709.1_Missense_Mutation_p.P46S|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512064.1_Missense_Mutation_p.P72S|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512789.1_Intron|GYPA_ENST00000324022.10_Missense_Mutation_p.P39S|GYPA_ENST00000504786.1_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	72					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TCTTCTGGAGGGTAAACAGTT	0.398000													12	45					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35812661	35812661	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35812661A>G	ENST00000237530.6	+	2	403	c.92A>G	c.(91-93)aAg>aGg	p.K31R	RPN2_ENST00000373622.5_Missense_Mutation_p.K31R	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	31					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TACCTCACCAAGCATGACGTG	0.537000													15	88					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	45004277	45004277	+	Missense_Mutation	SNP	C	C	T	rs144210143		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45004277C>T	ENST00000221327.4	-	1	297	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	ZNF180_ENST00000592529.1_Intron|ZNF180_ENST00000391956.4_Missense_Mutation_p.G6R|ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000587047.1_Missense_Mutation_p.G6R|ZNF180_ENST00000586637.1_Intron	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CGCGTAGACCCTGCGCATGCG	0.682000											OREG0025537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	91	146					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204151	56204151	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:56204151G>A	ENST00000361673.3	-	5	3481	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1090							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTCCCTCTGGGAGCTGCAGG	0.493000													83	7					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89512980	89512980	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:89512980G>A	ENST00000498435.1	-	0	309																											TGGTGAGAGTGAAATCTGTCC	0.483000													152	73					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201292181	201292181	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201292181A>C	ENST00000263946.3	+	10	1858	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	PKP1_ENST00000352845.3_Missense_Mutation_p.N536T|PKP1_ENST00000367324.3_Missense_Mutation_p.N515T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	536					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GAAGAGACCAACCCCAAGGGC	0.567000													22	130					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948906	38948906	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:38948906G>A	ENST00000355481.4	+	18	2272	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	RYR1_ENST00000360985.3_Missense_Mutation_p.G714D|RYR1_ENST00000359596.3_Missense_Mutation_p.G714D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	714	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TATTCCTACGGCTTTGATGGA	0.637000													81	98					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53600725	53600725	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:53600725A>G	ENST00000342160.3	-	46	6754	c.6297T>C	c.(6295-6297)tcT>tcC	p.S2099S	HUWE1_ENST00000262854.6_Silent_p.S2099S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2099					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCAGTTCAGACTGGCCCA	0.468000													13	32					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337955	40337955	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40337955C>T	ENST00000310169.2	+	2	315	c.176C>T	c.(175-177)aCc>aTc	p.T59I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	59					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTGAATGTGACCCTGCAGATT	0.393000													24	65					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	763576	763576	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:763576G>A	ENST00000215582.6	+	5	2129	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CTACGCCAGTGAGGAGGATGA	0.627000													15	15					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994042	140994042	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:140994042C>T	ENST00000285879.4	+	4	1138	c.852C>T	c.(850-852)ttC>ttT	p.F284F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	284							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.493000										HNSCC(15;0.026)			20	157					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14769981	14769981	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:14769981G>A	ENST00000253697.3	+	12	2178	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	C3orf20_ENST00000412910.1_Missense_Mutation_p.E454K|C3orf20_ENST00000435614.1_Missense_Mutation_p.E454K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	576	Poly-Glu.					cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAAAAAGGAGGAGGAAGAATT	0.473000													14	44					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807058	6807058	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6807058T>G	ENST00000307401.4	+	1	811	c.790T>G	c.(790-792)Tcc>Gcc	p.S264A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGCCCAGTTCCTTCCACAG	0.488000													30	42					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6008039	6008039	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6008039C>T	ENST00000332249.4	-	1	176	c.122G>A	c.(121-123)aGc>aAc	p.S41N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGTGCTGGCTTTCCTCTAA	0.493000													13	34					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758195	23758195	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23758195C>T	ENST00000336689.3	-	23	2584	c.2540G>A	c.(2539-2541)aGa>aAa	p.R847K	ASAP3_ENST00000495646.1_Missense_Mutation_p.R351K|ASAP3_ENST00000437606.2_Missense_Mutation_p.R838K|ASAP3_ENST00000484906.1_Intron	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	847					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAACCTGAATCTGACGGGGAG	0.587000													51	89					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237972278	237972278	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237972278C>T	ENST00000366574.2	+	100	14693	c.14376C>T	c.(14374-14376)ttC>ttT	p.F4792F	RYR2_ENST00000360064.6_Silent_p.F4798F|RYR2_ENST00000542537.1_Silent_p.F4776F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4792					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCGAAAATTCTACAATAAAA	0.358000													97	99					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1843492	1843492	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:1843492T>C	ENST00000302787.2	-	3	472	c.176A>G	c.(175-177)cAc>cGc	p.H59R		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	59					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GTACACAGGGTGGATGGGAGT	0.552000													4	14					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26212087	26212087	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:26212087A>T	ENST00000380737.3	+	4	613	c.284A>T	c.(283-285)aAg>aTg	p.K95M	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105M	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ATAGAAGAAAAGATCAACAAA	0.363000													14	78					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285347	223285347	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:223285347A>C	ENST00000540964.1	-	4	1488	c.1027T>G	c.(1027-1029)Ttg>Gtg	p.L343V	TLR5_ENST00000342210.6_Missense_Mutation_p.L343V			O60602	TLR5_HUMAN	toll-like receptor 5	343					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTATATGACAAATTGAGAACT	0.373000													13	84					0	0	1	0	0
ZSWIM7	125150	broad.mit.edu	37	17	15884443	15884443	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:15884443T>G	ENST00000399277.1	-	4	314	c.217A>C	c.(217-219)Agt>Cgt	p.S73R	ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000399280.2_5'UTR|ZSWIM7_ENST00000472495.1_Missense_Mutation_p.S73R	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	73					DNA recombination|DNA repair	nucleus	zinc ion binding			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TATGTTTTACTGGAACTTCCA	0.433000													8	36					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121487821	121487821	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:121487821G>A	ENST00000296600.4	+	2	519	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	46						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCCAGAAACAGAGAGTGTTAA	0.393000													31	48					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598346	46598346	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:46598346G>A	ENST00000398637.5	-	10	1368	c.674C>T	c.(673-675)tCc>tTc	p.S225F	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S225F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	225					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAGCTCAAGGAAAATCCACT	0.294000													41	216					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976461	4976461	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4976461G>A	ENST00000380371.1	-	1	482	c.483C>T	c.(481-483)ttC>ttT	p.F161F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGTGAAAGGGAAGGGAAGAA	0.433000													54	114					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79498771	79498771	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79498771G>A	ENST00000507668.2	-	2	279	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SERINC5_ENST00000509193.1_Silent_p.F43F|SERINC5_ENST00000512721.1_Silent_p.F43F|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512972.2_Silent_p.F43F	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	43					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CGACCAGAATGAAGTAGAGGG	0.552000													3	15					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874636	35874636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35874636G>A	ENST00000303115.3	+	6	921	c.792G>A	c.(790-792)tgG>tgA	p.W264*	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	264					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GTGTGTTATGGAAAAAAAGGT	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						15	55					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220435580	220435580	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220435580C>T	ENST00000404537.1	-	1	431	c.375G>A	c.(373-375)gaG>gaA	p.E125E	INHA_ENST00000489456.1_Intron|OBSL1_ENST00000265318.4_Silent_p.E125E|OBSL1_ENST00000373873.4_Silent_p.E125E|OBSL1_ENST00000603926.1_Silent_p.E125E|OBSL1_ENST00000491370.1_Intron|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000373876.1_Silent_p.E125E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	125					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGGGGCGCCCTCCCCGGACC	0.796000													5	2					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26694950	26694950	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26694950C>T	ENST00000226218.4	-	7	1728	c.1110G>A	c.(1108-1110)agG>agA	p.R370R	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	370	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GATGCCTAAACCTTTGTTTCT	0.647000													4	10					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351367	72351367	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72351367T>C	ENST00000389916.4	+	20	3051	c.2913T>C	c.(2911-2913)ggT>ggC	p.G971G		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	971					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCCAGGTGGTGGTTCTCGAC	0.657000													8	48					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353904	77353904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:77353904G>A	ENST00000282849.5	-	16	2792	c.2374C>T	c.(2374-2376)Cga>Tga	p.R792*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	792	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGAGGCTTCGAACTGCGAGG	0.537000													32	6					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366133	15366133	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15366133A>C	ENST00000263377.2	-	10	2243	c.2022T>G	c.(2020-2022)tgT>tgG	p.C674W	BRD4_ENST00000371835.4_Missense_Mutation_p.C674W|BRD4_ENST00000360016.5_Missense_Mutation_p.C674W	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	674					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTTCCGCAAACAGGAGGTGA	0.557000			T	C15orf55	lethal midline carcinoma of young people								12	43					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102248687	102248687	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:102248687G>A	ENST00000370345.3	-	24	3313	c.3216C>T	c.(3214-3216)ccC>ccT	p.P1072P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1072	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GATGCTCTGGGGGCAGCTCCT	0.547000													46	2					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450697	70450697	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:70450697C>T	ENST00000373644.4	+	12	5746	c.5537C>T	c.(5536-5538)cCa>cTa	p.P1846L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1846					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	p.P1846L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGGCATCTCCAGGCTTCTCC	0.493000													63	3					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37012811	37012811	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:37012811A>C	ENST00000418263.1	+	5	1047	c.697A>C	c.(697-699)Aag>Cag	p.K233Q	CCNA1_ENST00000440264.1_Missense_Mutation_p.K190Q|CCNA1_ENST00000449823.1_Missense_Mutation_p.K190Q|CCNA1_ENST00000255465.4_Missense_Mutation_p.K234Q	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	234					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACACTACATGAAGAAGCAGCC	0.443000													6	38					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209811274	209811274	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209811274T>G	ENST00000391911.1	-	4	740	c.351A>C	c.(349-351)caA>caC	p.Q117H	LAMB3_ENST00000367030.3_Missense_Mutation_p.Q117H|LAMB3_ENST00000356082.4_Missense_Mutation_p.Q117H	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	117	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCATGACTTCTTGAAGCTGGA	0.557000													14	20					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9000458	9000458	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9000458C>T	ENST00000397910.4	-	54	40729	c.40526G>A	c.(40525-40527)aGa>aAa	p.R13509K	MUC16_ENST00000380951.5_Missense_Mutation_p.R150K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13511	SEA 10.				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						CTGAAGGACTCTCTCCGTGGT	0.498000													43	60					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022175	51022175	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51022175T>C	ENST00000599957.1	-	3	992	c.795A>G	c.(793-795)gtA>gtG	p.V265V	LRRC4B_ENST00000389201.3_Silent_p.V265V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	265						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGATGGTGGCTACCTGGGCGT	0.647000													9	95					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091182	32091182	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:32091182G>A	ENST00000438447.1	+	20	8016	c.7628G>A	c.(7627-7629)gGa>gAa	p.G2543E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543E			O15018	PDZD2_HUMAN	PDZ domain containing 2	2543					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGTCCAGGAGGAAGTGGCCCT	0.577000													95	19					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677487	37677487	+	Missense_Mutation	SNP	G	G	C	rs111650421		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37677487G>C	ENST00000532828.2	-	5	1203	c.952C>G	c.(952-954)Cgt>Ggt	p.R318G	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.R263G|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGAACACGTTGATGTACC	0.383000													7	122					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632450	32632450	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:32632450T>G	ENST00000242310.4	-	1	3217	c.3128A>C	c.(3127-3129)gAa>gCa	p.E1043A		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1043					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)		ATCAATCACTTCCCAGCGGGA	0.483000													10	174					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91434823	91434823	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91434823C>T	ENST00000328850.3	+	12	1712	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	FES_ENST00000450438.2_Missense_Mutation_p.P396S|FES_ENST00000444422.2_Missense_Mutation_p.P454S|FES_ENST00000394302.1_Missense_Mutation_p.P396S|FES_ENST00000414248.2_Missense_Mutation_p.P396S|FES_ENST00000394300.3_Missense_Mutation_p.P466S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	524	SH2.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCCTAGCATTCCTTTGCTCAT	0.627000													33	48					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357668	114357668	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:114357668C>T	ENST00000317135.8	-	18	1967	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R629Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	646	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TATTTGCTCTCGCTCTTCCCG	0.408000													8	2					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149453039	149453039	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149453039A>C	ENST00000286301.3	-	7	1198	c.907T>G	c.(907-909)Ttg>Gtg	p.L303V	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	303	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCAGAGCTCAAGTTCAAGTAG	0.502000													23	13					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6976948	6976948	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6976948C>T	ENST00000278319.5	+	7	1328	c.740C>T	c.(739-741)tCa>tTa	p.S247L	ZNF215_ENST00000414517.2_Missense_Mutation_p.S247L|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.S247L	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	247					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GGAGAAGAATCATCCCATGGA	0.393000													19	86					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792776	169792776	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:169792776G>A	ENST00000263817.6	-	22	2902	c.2778C>T	c.(2776-2778)gcC>gcT	p.A926A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	926	ABC transmembrane type-1 2.		A -> P (in BRIC2).		bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TATCTCGAGAGGCAAATCCTG	0.488000													19	34					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103802254	103802254	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:103802254C>T	ENST00000216554.3	+	3	733	c.57C>T	c.(55-57)ccC>ccT	p.P19P	EIF5_ENST00000558506.1_Silent_p.P19P|EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Silent_p.P19P	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	19					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			ACAAGATGCCCCGTCTGATTG	0.393000													37	129					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749599	80749599	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:80749599T>G	ENST00000458043.2	+	46	5656	c.5650T>G	c.(5650-5652)Ttg>Gtg	p.L1884V	OTOGL_ENST00000547103.1_Missense_Mutation_p.L1872V	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATACAAATGTTTGGAGAATGG	0.448000													13	55					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347006	71347006	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71347006C>T	ENST00000413702.1	+	4	833	c.545C>T	c.(544-546)tCc>tTc	p.S182F	MUC7_ENST00000304887.5_Missense_Mutation_p.S182F|MUC7_ENST00000456088.1_Missense_Mutation_p.S182F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	182	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.567000													35	95					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482133	135482133	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:135482133A>G	ENST00000394143.1	+	21	8724	c.8433A>G	c.(8431-8433)acA>acG	p.T2811T	GPR112_ENST00000370652.1_Silent_p.T2811T|GPR112_ENST00000394141.1_Silent_p.T2606T|GPR112_ENST00000287534.4_Silent_p.T2564T|GPR112_ENST00000412101.1_Silent_p.T2606T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2811					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTGTATCACAGCTGCAGTGG	0.413000													8	69					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044234	133044234	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133044234C>T	ENST00000262283.5	-	16	1660	c.1561G>A	c.(1561-1563)Gga>Aga	p.G521R	OC90_ENST00000254627.3_Missense_Mutation_p.G309R|OC90_ENST00000603859.1_Missense_Mutation_p.G309R|OC90_ENST00000443356.2_Missense_Mutation_p.G325R			Q02509	OC90_HUMAN	otoconin 90	325					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGCATCTCTCCAAGCTGTGGC	0.527000													33	55					0	0	1	0	0
PXDC1	221749	broad.mit.edu	37	6	3727815	3727815	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:3727815T>C	ENST00000380283.4	-	4	1042	c.548A>G	c.(547-549)cAg>cGg	p.Q183R	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	183					cell communication		phosphatidylinositol binding										GCCCAGCTGCTGGTCTCTTCC	0.428000													14	65					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157804506	157804506	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157804506C>T	ENST00000368174.4	-	4	505	c.409G>A	c.(409-411)Ggt>Agt	p.G137S		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	137					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCCTGACACCCTCTGGGACT	0.592000													31	53					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89855890	89855890	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:89855890G>A	ENST00000275072.4	+	1	122	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	9							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCGGCCCGTGGAAGGGGGCG	0.756000													11	2					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58320062	58320062	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:58320062C>T	ENST00000219301.4	-	5	695	c.301G>A	c.(301-303)Gat>Aat	p.D101N	PRSS54_ENST00000543437.1_Missense_Mutation_p.D2N|PRSS54_ENST00000567164.1_Missense_Mutation_p.D101N	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	101	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGCTAGGATCCATGTTACTT	0.453000													47	10					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640663	145640663	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145640663G>A	ENST00000276833.5	-	2	843	c.540C>T	c.(538-540)ttC>ttT	p.F180F	SLC39A4_ENST00000301305.3_Silent_p.F205F	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	205						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAAAGTCCACGAAGTACTGAG	0.697000													27	53					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65178737	65178737	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65178737C>T	ENST00000317568.5	+	11	1464	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L	FRMD8_ENST00000416776.2_Missense_Mutation_p.P400L|FRMD8_ENST00000355991.5_Missense_Mutation_p.P378L	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	434						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGAGTGAAGCCGAAGCGCACC	0.672000													8	22					0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139226816	139226816	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:139226816G>A	ENST00000422142.2	+	4	554	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	161	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					GGACTACGCAGAGTTGGGGAC	0.557000													8	24					0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126090374	126090374	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:126090374A>G	ENST00000368845.5	-	8	1027	c.935T>C	c.(934-936)cTg>cCg	p.L312P	OAT_ENST00000539214.1_Missense_Mutation_p.L174P|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	312					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	CTTAATGGTCAGCATGATGTC	0.502000													5	18					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366883	79366883	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:79366883T>C	ENST00000325942.6	+	42	6313	c.5873T>C	c.(5872-5874)gTt>gCt	p.V1958A	FRAS1_ENST00000264895.6_Intron	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	0					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTTTGGAAGTTGGAAAGGTT	0.378000													98	41					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736441	27736441	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27736441C>A	ENST00000430629.2	-	8	1299	c.1084G>T	c.(1084-1086)Gct>Tct	p.A362S	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	362					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GGAGGGGCAGCAAAATCAGGG	0.622000													51	54					2.43468e-25	2.4578e-25	1	1	0
TMX2	51075	broad.mit.edu	37	11	57505101	57505101	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57505101T>A	ENST00000278422.4	+	2	223	c.211T>A	c.(211-213)Ttt>Att	p.F71I	TMX2_ENST00000378312.4_Missense_Mutation_p.F71I|TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.F71I	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	71					cell redox homeostasis	integral to membrane		p.F71L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GATCCTGATGTTTCTCAGTGC	0.418000													10	27					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635073	70635073	+	Missense_Mutation	SNP	G	G	A	rs111708263		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70635073G>A	ENST00000381269.2	-	2	820	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	SLC8A3_ENST00000357887.3_Missense_Mutation_p.L23F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.L23F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.L23F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.L23F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	23					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCAGGAAGAGCACAAAGGTA	0.547000													15	18					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156009909	156009909	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156009909G>A	ENST00000302490.8	+	1	1084	c.213G>A	c.(211-213)atG>atA	p.M71I	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.M71I|KCNAB1_ENST00000471742.1_Intron	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	89						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.M71I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGACTGGCATGAAATATAGGT	0.507000													37	2					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553441	179553441	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179553441G>A	ENST00000589042.1	-	126	32384	c.32160C>T	c.(32158-32160)ttC>ttT	p.F10720F	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.F10403F|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.F9476F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10403	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGAACTGCGAAGGATAGTT	0.373000													10	29					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255222	30255222	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:30255222G>A	ENST00000417547.1	+	3	304	c.265G>A	c.(265-267)Gat>Aat	p.D89N	FSHB_ENST00000533718.1_Missense_Mutation_p.D89N|FSHB_ENST00000254122.3_Missense_Mutation_p.D89N	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	89					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TCACCATGCAGATTCCTTGTA	0.537000													23	23					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052705	43052705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:43052705C>T	ENST00000316099.3	+	8	1029	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	HNF4A_ENST00000457232.1_Nonsense_Mutation_p.Q292*|HNF4A_ENST00000443598.2_Nonsense_Mutation_p.Q314*|HNF4A_ENST00000415691.1_Nonsense_Mutation_p.Q314*	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	314					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGCGTTCCCAGGTGCAGGT	0.612000													12	14					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85587442	85587442	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:85587442A>T	ENST00000294664.6	+	18	2106	c.1926A>T	c.(1924-1926)gaA>gaT	p.E642D	WDR63_ENST00000326813.8_Missense_Mutation_p.E603D|WDR63_ENST00000370596.1_Missense_Mutation_p.E603D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	642										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGGAAGGCGAAGTGATATACA	0.353000													7	109					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738629	229738629	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:229738629G>A	ENST00000366675.3	-	4	373	c.285C>T	c.(283-285)ctC>ctT	p.L95L	TAF5L_ENST00000258281.2_Silent_p.L95L|TAF5L_ENST00000366676.1_Silent_p.L95L	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	95					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGGATAGAGGAGAGGCATCA	0.428000													25	31					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349891	21349891	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21349891A>C	ENST00000256958.2	+	8	835	c.739A>C	c.(739-741)Ata>Cta	p.I247L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	247					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CACTATCAGGATAACTCCTAC	0.353000													28	29					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6975183	6975183	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6975183C>T	ENST00000229268.8	+	20	2571	c.2519C>T	c.(2518-2520)tCc>tTc	p.S840F	USP5_ENST00000389231.5_Missense_Mutation_p.S817F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	840					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GTGTGTGCCTCCGAGAAGCCG	0.527000													16	33					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618689	37618689	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37618689G>A	ENST00000399151.3	+	19	4496	c.4411G>A	c.(4411-4413)Gag>Aag	p.E1471K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1471					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGTCCCGGGAGTGGCAGAG	0.637000													9	17					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15349970	15349970	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15349970G>A	ENST00000263377.2	-	18	3903	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1228					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCGGCGCGGCGGAACTGCTCG	0.632000			T	C15orf55	lethal midline carcinoma of young people								18	14					0	0	1	0	0
COX19	90639	broad.mit.edu	37	7	1009046	1009046	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:1009046A>T	ENST00000344111.3	-	3	330	c.241T>A	c.(241-243)Ttg>Atg	p.L81M		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	81						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCACTAGTCAAGTCTCCAAAT	0.473000													61	351					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7654023	7654023	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7654023C>T	ENST00000359156.4	-	3	371	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CD163_ENST00000541972.1_Missense_Mutation_p.E45K|CD163_ENST00000396620.3_Missense_Mutation_p.E57K|CD163_ENST00000432237.2_Missense_Mutation_p.E57K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	57	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTGTTTTCACCATCCACT	0.458000													58	49					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325737	78325737	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:78325737G>A	ENST00000255189.3	-	11	1832	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	DMGDH_ENST00000540686.1_Missense_Mutation_p.H222Y|DMGDH_ENST00000380311.4_Missense_Mutation_p.H401Y	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	602					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTAAGATCATGAAGTTCTGAT	0.373000													4	11					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512192	248512192	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248512192G>A	ENST00000317861.1	+	1	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACTCTAATGGGAAACATCCTC	0.433000													59	47					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766558	124766558	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124766558C>T	ENST00000306534.3	-	3	894	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	137	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGAAATCCTCCCGGAGGACT	0.622000													18	1					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146731507	146731507	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:146731507C>T	ENST00000369258.4	+	6	531	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CHD1L_ENST00000431239.1_Missense_Mutation_p.L171F|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	171	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTGGAGTGTTCTTGTTGTGGA	0.373000													95	129					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124529	142124529	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142124529G>A	ENST00000390376.2	-	0	36																											GCCCACAGGAGAGAAAAGGCC	0.602000													38	55					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100691888	100691888	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:100691888C>T	ENST00000360820.2	+	4	852	c.415C>T	c.(415-417)Cct>Tct	p.P139S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	139	Protein kinase.			PISPDIK -> LMSGDIG (in Ref. 4; BAA92598).	endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCTACCTTCCCCTATATCTCC	0.328000													12	0					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060143	57060143	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57060143G>A	ENST00000436936.1	+	6	1513	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A430T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A430T|NLRC5_ENST00000262510.6_Missense_Mutation_p.A430T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	430	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGTCTGTGGCCCTCCTGCC	0.647000													56	3					0	0	1	0	0
TMEM138	51524	broad.mit.edu	37	11	61135396	61135396	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61135396A>C	ENST00000278826.6	+	4	861	c.300_splice	c.e4-1	p.N101_splice	TMEM138_ENST00000542946.1_3'UTR|TMEM138_ENST00000381787.2_Splice_Site_p.N43_splice	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	101						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTCCTTCAGAACTTACGCTGG	0.438000													17	252					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038131	185038131	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:185038131C>T	ENST00000296741.2	-	5	874	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	245					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAGAAAATGTCGGTCATTCCG	0.532000													16	32					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24573103	24573103	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24573103T>G	ENST00000545054.2	+	10	2369	c.1451T>G	c.(1450-1452)gTc>gGc	p.V484G	PCK2_ENST00000558096.1_Missense_Mutation_p.V452G|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_3'UTR|PCK2_ENST00000561286.1_Missense_Mutation_p.V484G|PCK2_ENST00000216780.4_Missense_Mutation_p.V618G			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	618					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ACAGAGCAGGTCAACCAGGAT	0.552000													17	49					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52303324	52303324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:52303324C>T	ENST00000371068.5	+	3	611	c.508C>T	c.(508-510)Cga>Tga	p.R170*	EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R79*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R151*|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	170	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGACCTAAATCGAGGAATAAA	0.408000													28	35					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904351	23904351	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23904351T>G	ENST00000382298.3	-	10	14252	c.13664A>C	c.(13663-13665)gAg>gCg	p.E4555A	SACS_ENST00000402364.1_Missense_Mutation_p.E3805A|SACS_ENST00000382292.3_Missense_Mutation_p.E4555A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4555	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATAGCAACCTCAGAAGTGAA	0.358000													12	44					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999836	124999836	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:124999836G>A	ENST00000431078.1	+	3	611	c.247G>A	c.(247-249)Gga>Aga	p.G83R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	83	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATGGACCTGGGAAACAGAGT	0.522000													5	4					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104678309	104678309	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:104678309T>G	ENST00000369878.3	+	1	196	c.72T>G	c.(70-72)acT>acG	p.T24T	CNNM2_ENST00000433628.2_Silent_p.T24T|CNNM2_ENST00000369875.3_Silent_p.T24T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	24					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACTGCCCACTTGGAAGATGG	0.697000													5	9					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800546	74800546	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:74800546G>A	ENST00000305159.3	-	1	253	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CCAAGGTGGAGAGATTGATCA	0.522000													26	44					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030612	3030612	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3030612G>A	ENST00000328890.2	-	1	263	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GCATCTTAGGGACTGTGGTGG	0.458000													57	5					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716881	48716881	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:48716881T>G	ENST00000294129.2	-	9	1618	c.1499A>C	c.(1498-1500)aAa>aCa	p.K500T	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.K500T|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.K493T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	500					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTAACAGAGTTTCTGGTGGTC	0.557000													20	33					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866414	23866414	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:23866414T>C	ENST00000269142.5	+	7	2539	c.1541T>C	c.(1540-1542)gTc>gCc	p.V514A	TAF4B_ENST00000400466.2_Missense_Mutation_p.V514A|TAF4B_ENST00000578121.1_Missense_Mutation_p.V514A	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	514	Required for interaction with P65/RELA.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CCGGGCCCTGTCCTTTCACAA	0.448000													5	77					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1073259	1073259	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1073259C>T	ENST00000313093.2	+	3	764	c.533C>T	c.(532-534)aCc>aTc	p.T178I	HMHA1_ENST00000543365.1_Missense_Mutation_p.T61I|HMHA1_ENST00000539243.2_Missense_Mutation_p.T194I|HMHA1_ENST00000536472.1_Missense_Mutation_p.T18I|HMHA1_ENST00000590214.1_Missense_Mutation_p.T205I|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000586866.1_Missense_Mutation_p.T182I	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACGCTCACCGCAGCCGGC	0.642000													47	53					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782366	107782366	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:107782366C>T	ENST00000311955.3	-	1	107	c.53G>A	c.(52-54)cGg>cAg	p.R18Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	18					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCGTATCTTCCGGAGGGCGCT	0.617000													22	63					0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21500139	21500139	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21500139A>G	ENST00000321760.6	+	4	564	c.416A>G	c.(415-417)aAg>aGg	p.K139R	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.K139R	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	139						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGAGTGGCAAGGGCAAGGGC	0.537000													17	56					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005998	50005998	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50005998A>C	ENST00000443081.1	+	3	1663	c.744A>C	c.(742-744)tcA>tcC	p.S248S	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000266022.4_Silent_p.S380S|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	380					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGCAGAGTTCAGATGCTGGTC	0.483000													17	42					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124391	217124391	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:217124391G>A	ENST00000273067.4	-	4	2643	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	293						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGTCCTTCATGGATGATGAGA	0.522000													19	13					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034533	94034533	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:94034533G>A	ENST00000297268.6	+	10	926	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	152					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAACCCGGACGACCTGGTGAG	0.408000										HNSCC(75;0.22)			16	10					0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42026493	42026493	+	Missense_Mutation	SNP	C	C	T	rs142101815	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42026493C>T	ENST00000518421.1	+	10	1462	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	AP3M2_ENST00000520685.1_3'UTR|AP3M2_ENST00000396926.3_Missense_Mutation_p.R391C|AP3M2_ENST00000174653.3_Missense_Mutation_p.R391C	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	391	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAAGGTGAATCGTCTGGATAT	0.418000													30	43					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115970694	115970694	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:115970694C>T	ENST00000251864.2	+	13	1781	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V	TDRD1_ENST00000369281.2_Missense_Mutation_p.A543V|TDRD1_ENST00000369282.1_Missense_Mutation_p.A543V|TDRD1_ENST00000369280.1_Missense_Mutation_p.A543V|TDRD1_ENST00000422662.1_Missense_Mutation_p.A204V	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	543	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTTATCCAGCCATTGGTGAT	0.343000													27	1					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225609	61225609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:61225609C>T	ENST00000382768.1	+	2	193	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	SERPINB12_ENST00000269491.1_Nonsense_Mutation_p.Q65*			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	65					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CGAATTTTCCCAGAATGAAAG	0.428000													41	3					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888089	97888089	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:97888089C>T	ENST00000356526.2	+	1	546	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTGACACTATCCCATTGTCTA	0.313000													6	0					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976637	4976637	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4976637C>T	ENST00000380371.1	-	1	306	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.448000													4	88					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648554	20648554	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20648554G>A	ENST00000219151.4	-	9	1268	c.58C>T	c.(58-60)Cat>Tat	p.H20Y	ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCCTCCATATGAAACTGAAGG	0.507000													15	43					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			53	1					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40843572	40843572	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:40843572A>G	ENST00000254691.5	+	2	801	c.602A>G	c.(601-603)gAg>gGg	p.E201G	CARD6_ENST00000381677.3_Missense_Mutation_p.E201G	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	201	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGAGATATGAGGAGCTAGAT	0.378000													8	42					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508742	71508742	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71508742T>G	ENST00000396073.3	+	9	1880	c.1599T>G	c.(1597-1599)acT>acG	p.T533T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	533					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAGAAACTAATCAGTCAG	0.408000													43	68					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178753573	178753573	+	Silent	SNP	C	C	T	rs140442248		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:178753573C>T	ENST00000367635.3	+	3	416	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Silent_p.S26S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	26					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCTCTGAATCCTTAAGTGACA	0.383000													15	40					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6025307	6025307	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6025307G>A	ENST00000378858.4	-	4	1104	c.880C>T	c.(880-882)Cct>Tct	p.P294S		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	294						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTCCAAGGAGGGAAGGAACTC	0.443000													8	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635956	179635956	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179635956C>T	ENST00000589042.1	-	34	8322	c.8098G>A	c.(8098-8100)Gcc>Acc	p.A2700T	TTN_ENST00000342175.6_Missense_Mutation_p.A2654T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A2654T|TTN_ENST00000359218.5_Missense_Mutation_p.A2654T|TTN_ENST00000591111.1_Missense_Mutation_p.A2700T|TTN_ENST00000360870.5_Missense_Mutation_p.A2700T|TTN_ENST00000342992.6_Missense_Mutation_p.A2700T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2438	Ig-like 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)			TTGAGTTTGGCAGATGTTTTG	0.383000													9	32					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96079871	96079871	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96079871G>A	ENST00000297954.4	+	29	6697	c.6697G>A	c.(6697-6699)Gtc>Atc	p.V2233I	WNK2_ENST00000349097.3_Missense_Mutation_p.V1845I|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V1808I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.V2196I			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2233					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTCCACCACGGTCATTCCCGG	0.652000													23	41					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834386	101834386	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:101834386G>A	ENST00000506729.1	-	1	334	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P55S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P55S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P55S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P55S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	55						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGGCCTCTGGAAGTAGTCTC	0.572000													80	87					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605047	47605047	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47605047A>C	ENST00000371917.4	+	18	2381	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	794			K -> E (in a breast cancer sample; somatic mutation).		exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAATGACGAAAGAGCAGTAT	0.299000													15	61					0	0	1	0	0
C11orf94	143678	broad.mit.edu	37	11	45928453	45928453	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45928453C>T	ENST00000449465.1	-	2	178	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	48						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TGCGAGAGTTCCAGGGGGGCG	0.627000													47	72					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089906	10089906	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10089906C>T	ENST00000264828.3	-	39	2861	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	926	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCACTTCTCCTGTCTTTCCC	0.607000													34	33					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552291	41552291	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:41552291T>G	ENST00000396942.1	-	28	3229	c.3146A>C	c.(3145-3147)aAg>aCg	p.K1049T	ANK1_ENST00000289734.7_Missense_Mutation_p.K1049T|ANK1_ENST00000347528.4_Missense_Mutation_p.K1049T|ANK1_ENST00000379758.2_Missense_Mutation_p.K1049T|ANK1_ENST00000265709.8_Missense_Mutation_p.K1090T|ANK1_ENST00000396945.1_Missense_Mutation_p.K1049T|ANK1_ENST00000352337.4_Missense_Mutation_p.K1049T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1049					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCACACCCTCTTCTTCTCTAG	0.612000													5	53					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680657	137680657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137680657C>T	ENST00000239906.5	+	4	708	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	FAM53C_ENST00000434981.2_Nonsense_Mutation_p.Q94*|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	94										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCTTCTCCCAAGTCCTAAG	0.622000													24	39					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41235230	41235230	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41235230T>C	ENST00000263370.2	+	3	1412	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	460						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TATGGCATGGTGCTGCAGGAT	0.582000													7	28					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570082	25570082	+	Missense_Mutation	SNP	C	C	T	rs150313483		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:25570082C>T	ENST00000269141.3	-	10	2000	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	CDH2_ENST00000399380.3_Missense_Mutation_p.R495Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	526	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGCATATATCGATCTGGGTC	0.378000													18	47					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113264	161113264	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161113264G>A	ENST00000523217.1	+	2	309	c.67G>A	c.(67-69)Gtt>Att	p.V23I	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.V23I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	23					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAACTCGAAGTTGAAGGCAA	0.473000										TCGA Ovarian(5;0.080)			15	28					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477198	110477198	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:110477198C>T	ENST00000378402.5	+	49	8241	c.8137C>T	c.(8137-8139)Ctt>Ttt	p.L2713F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2713					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTCGGCCATCTTGATGAACT	0.468000										HNSCC(38;0.096)			49	78					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188023	81188023	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:81188023C>T	ENST00000456523.3	+	1	231	c.45C>T	c.(43-45)atC>atT	p.I15I	FGF5_ENST00000312465.7_Silent_p.I15I	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	15					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GCCACCTGATCCTCAGCGCCT	0.607000													13	45					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145629419	145629419	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:145629419C>T	ENST00000296575.3	+	7	1912	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	419						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACAGCACCAACCAGCCCCCCG	0.542000													23	18					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744100	140744100	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140744100C>T	ENST00000518069.1	+	1	203	c.203C>T	c.(202-204)tCc>tTc	p.S68F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATCGTCTCCAGAGGTAGG	0.652000													28	36					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164069	150164069	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150164069C>T	ENST00000307271.3	+	2	857	c.283C>T	c.(283-285)Cat>Tat	p.H95Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	95						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCCCAGCCTCCATGCTCTGCT	0.517000													54	65					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423699	33423699	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33423699C>T	ENST00000395064.2	+	2	1090	c.822C>T	c.(820-822)gcC>gcT	p.A274A		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	274	Pro-rich.		A -> G (in dbSNP:rs9469425).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGCTTCCTGCCCCTCCTGCAC	0.572000													22	62					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92074738	92074738	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92074738C>T	ENST00000256343.3	-	22	2765	c.2609G>A	c.(2608-2610)aGg>aAg	p.R870K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	870					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGATGGAGGCCTGTAGTTTAT	0.328000													25	14					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10264847	10264847	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:10264847G>A	ENST00000360566.2	+	5	910	c.619G>A	c.(619-621)Gag>Aag	p.E207K	RRM2_ENST00000304567.5_Missense_Mutation_p.E147K	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	147					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	p.E147Q(1)|p.E207Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCACTAGGTGGAGCGATTTAG	0.403000													28	29					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017319	32017319	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32017319T>C	ENST00000375244.3	-	28	9686	c.9485A>G	c.(9484-9486)gAg>gGg	p.E3162G	TNXB_ENST00000375247.2_Missense_Mutation_p.E3160G			P22105	TENX_HUMAN	tenascin XB	3207	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCAGGGGCCTCCGGGGCCTC	0.667000													10	51					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197019884	197019884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197019884C>A	ENST00000367412.1	-	10	1724	c.1681G>T	c.(1681-1683)Gga>Tga	p.G561*	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	561	Sushi 9.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCCCTAGATCCTTCTAGGAAA	0.353000													12	23					1.61879e-10	1.62747e-10	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670588	186670588	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:186670588G>A	ENST00000343098.5	+	17	16822	c.16822G>A	c.(16822-16824)Gaa>Aaa	p.E5608K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E5519K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAATAAAAAGGAAGTGGATGA	0.348000													39	29					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62350030	62350030	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62350030G>A	ENST00000371158.2	+	22	3195	c.3081G>A	c.(3079-3081)aaG>aaA	p.K1027K	INADL_ENST00000316485.6_Silent_p.K1027K	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1027					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTATTTCCAAGGCCTCAGCAT	0.393000													25	90					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73450916	73450916	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73450916T>G	ENST00000252034.7	+	3	562		c.e3+2		ELN_ENST00000380576.5_Splice_Site|ELN_ENST00000320492.7_Splice_Site|ELN_ENST00000414324.1_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380553.4_Splice_Site|ELN_ENST00000320399.6_Splice_Site|ELN_ENST00000357036.5_Splice_Site|ELN_ENST00000445912.1_Splice_Site|ELN_ENST00000458204.1_Intron|ELN_ENST00000358929.4_Splice_Site|ELN_ENST00000380584.4_Splice_Site|ELN_ENST00000429192.1_Splice_Site|ELN_ENST00000380562.4_Splice_Site	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin						blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GAGGAGGAGGTGAGCTCAGAA	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						19	87					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52644906	52644906	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:52644906A>C	ENST00000411563.1	-	2	664	c.457T>G	c.(457-459)Ttg>Gtg	p.L153V	BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000371435.2_Intron			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	0						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCAGAACCAAGTGGATACAC	0.552000													25	205					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149467591	149467591	+	Missense_Mutation	SNP	G	G	A	rs144746785		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149467591G>A	ENST00000302017.3	-	3	502	c.89C>T	c.(88-90)tCc>tTc	p.S30F	ZNF467_ENST00000484747.1_Missense_Mutation_p.S30F	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATTATGGGATCCTTCCCT	0.552000													14	51					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44109537	44109537	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:44109537G>A	ENST00000262419.6	-	14	3436	c.2966C>T	c.(2965-2967)cCt>cTt	p.P989L	KANSL1_ENST00000432791.1_Missense_Mutation_p.P989L|KANSL1_ENST00000393476.3_Missense_Mutation_p.P283L|KANSL1_ENST00000575318.1_Missense_Mutation_p.P925L|KANSL1_ENST00000574590.1_Missense_Mutation_p.P989L|KANSL1_ENST00000572904.1_Missense_Mutation_p.P989L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	989						MLL1 complex	protein binding										GGGGCTCCTAGGGGACTGACC	0.622000													41	59					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3410611	3410611	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:3410611T>C	ENST00000356575.4	-	33	4433	c.4207A>G	c.(4207-4209)Agt>Ggt	p.S1403G	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1403	EGF-like 26.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATCGGCCACTGATGGGGTCG	0.682000													8	42					0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12641906	12641906	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12641906A>C	ENST00000251849.4	-	8	1282	c.843T>G	c.(841-843)atT>atG	p.I281M	RAF1_ENST00000542177.1_Missense_Mutation_p.I200M|RAF1_ENST00000442415.2_Missense_Mutation_p.I301M|RAF1_ENST00000534997.1_Missense_Mutation_p.I66M	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	281					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTGACTTCGAATTGCATCCT	0.413000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				6	57					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35457682	35457682	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:35457682C>T	ENST00000378880.2	-	9	1547	c.1100_splice	c.e9-1	p.E368_splice	PAMR1_ENST00000532848.1_Splice_Site_p.E328_splice|PAMR1_ENST00000378878.3_Splice_Site_p.E257_splice|PAMR1_ENST00000278360.3_Splice_Site_p.E385_splice	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	368					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AATGGTGTCTCCCTGGGTCAG	0.512000													28	41					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618411	37618411	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37618411G>A	ENST00000337995.3	+	5	733	c.518G>A	c.(517-519)gGg>gAg	p.G173E	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.G173E	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCAATGCGGGAAGGCCTTT	0.428000													13	46					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594364	123594364	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123594364A>G	ENST00000340011.5	+	3	1097	c.740A>G	c.(739-741)gAt>gGt	p.D247G	SPAM1_ENST00000439500.1_Missense_Mutation_p.D247G|SPAM1_ENST00000460182.1_Missense_Mutation_p.D247G|SPAM1_ENST00000223028.7_Missense_Mutation_p.D247G|SPAM1_ENST00000402183.2_Missense_Mutation_p.D247G	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	247					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AAAAGAAATGATGATCTCAGC	0.398000													6	85					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27190656	27190656	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:27190656T>G	ENST00000380036.4	+	10	1899	c.1457T>G	c.(1456-1458)gTt>gGt	p.V486G	TEK_ENST00000519097.1_Missense_Mutation_p.V339G|TEK_ENST00000406359.4_Missense_Mutation_p.V443G	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	486	Fibronectin type-III 1.		V -> I (in dbSNP:rs1334811).		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TACAAACCCGTTAATCACTAT	0.433000													61	38					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449727	158449727	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158449727G>A	ENST00000368152.1	+	1	60	c.60G>A	c.(58-60)caG>caA	p.Q20Q	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCCCTTTGCAGATCTTGGCAG	0.423000													52	57					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109954280	109954280	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:109954280G>A	ENST00000424296.2	-	12	1176	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	AK9_ENST00000285397.5_Missense_Mutation_p.S367L|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.S367L	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTCTTCTGATGAAAGACAGTA	0.338000													16	5					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14745915	14745915	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:14745915A>C	ENST00000253697.3	+	7	1402	c.950A>C	c.(949-951)aAg>aCg	p.K317T	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.K195T|C3orf20_ENST00000435614.1_Missense_Mutation_p.K195T	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	317						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TACAAGGCAAAGATGCCCTCT	0.507000													26	64					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131170	52131170	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52131170C>T	ENST00000222107.4	-	5	1052	c.914G>A	c.(913-915)aGg>aAg	p.R305K	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R305K|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.R305K|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R305K|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R305K			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	305	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTCTGCAGACCTTACTCGACG	0.597000													54	82					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134994973	134994973	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:134994973T>A	ENST00000535938.1	+	20	2799	c.2632T>A	c.(2632-2634)Tta>Ata	p.L878I	SAGE1_ENST00000370709.3_Missense_Mutation_p.L878I|SAGE1_ENST00000537770.1_Missense_Mutation_p.L502I|SAGE1_ENST00000324447.3_Missense_Mutation_p.L878I	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	878										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTTGTCTTAATTCAGCA	0.358000													8	7					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907225	7907225	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7907225C>T	ENST00000254854.4	+	3	927	c.777C>T	c.(775-777)ctC>ctT	p.L259L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	259					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AGCGCTACCTCCTGGAGGCCG	0.687000													19	64					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103049955	103049955	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:103049955T>C	ENST00000375735.2	+	39	6484	c.6340T>C	c.(6340-6342)Ttt>Ctt	p.F2114L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2114L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2114	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGAATGATCTTTCTTAGGTA	0.308000													12	27					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707064	96707064	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:96707064G>A	ENST00000542454.2	+	3	3406	c.318G>A	c.(316-318)gtG>gtA	p.V106V	BDKRB2_ENST00000306005.3_Silent_p.V133V|BDKRB2_ENST00000539359.1_Silent_p.V106V|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.V133V			P30411	BKRB2_HUMAN	bradykinin receptor B2	133					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GCCGCGTGGTGAATGCCATTA	0.587000													127	147					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79282801	79282801	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:79282801G>A	ENST00000442340.1	+	7	975	c.485G>A	c.(484-486)aGa>aAa	p.R162K	TBX22_ENST00000373294.5_Missense_Mutation_p.R282K|TBX22_ENST00000373291.1_Missense_Mutation_p.R162K|TBX22_ENST00000373296.3_Missense_Mutation_p.R282K	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	282					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAAGGATTTAGAGATACTGGA	0.303000													10	6					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2538422	2538422	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:2538422C>T	ENST00000288709.6	-	7	835	c.595G>A	c.(595-597)Gag>Aag	p.E199K	MMEL1_ENST00000378412.3_Missense_Mutation_p.E208K|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	208					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTACGGTCTCGTTCCACCTG	0.642000													79	52					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675475	102675475	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102675475A>G	ENST00000335263.5	+	3	1048	c.968A>G	c.(967-969)gAc>gGc	p.D323G	WDR20_ENST00000342702.3_Missense_Mutation_p.D323G|WDR20_ENST00000556807.1_Missense_Mutation_p.D262G|WDR20_ENST00000556511.2_Missense_Mutation_p.D262G|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Missense_Mutation_p.D354G|WDR20_ENST00000424963.2_Missense_Mutation_p.D199G|WDR20_ENST00000545563.1_Missense_Mutation_p.D150G|WDR20_ENST00000499851.2_Missense_Mutation_p.D66G|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	323										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GAAGAAGGTGACCCTATGGAG	0.498000													3	67					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925170	70925170	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70925170A>G	ENST00000603540.1	+	2	1212	c.954A>G	c.(952-954)ccA>ccG	p.P318P	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.P318P	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	318	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TATGTCGTCCACCTATTGATT	0.413000													17	156					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21771644	21771644	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21771644C>T	ENST00000318249.5	+	2	415	c.65C>T	c.(64-66)tCc>tTc	p.S22F	NBPF3_ENST00000454000.2_Missense_Mutation_p.S22F|NBPF3_ENST00000342104.5_Missense_Mutation_p.S22F|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000478653.2_3'UTR	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	22						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTAGAAACTTCCCCATTCGGT	0.582000													11	36					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242138764	242138764	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242138764T>C	ENST00000274979.8	+	5	608	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	ANO7_ENST00000402430.3_Missense_Mutation_p.Y168H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	169						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CACAGTGCACTACGCCCTCCT	0.632000													15	37					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684681	100684681	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100684681T>G	ENST00000306151.4	+	3	10048	c.9984T>G	c.(9982-9984)acT>acG	p.T3328T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3328	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGACGGTACTAGCATGCCAA	0.488000													110	330					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75113082	75113082	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75113082A>C	ENST00000309664.5	+	8	1020	c.881A>C	c.(880-882)aAa>aCa	p.K294T	LMAN1L_ENST00000379709.3_Missense_Mutation_p.K282T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	294						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTAACTCCAAAATCAGACTCT	0.617000													21	31					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59074699	59074699	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:59074699C>T	ENST00000215057.2	-	6	1505	c.945G>A	c.(943-945)caG>caA	p.Q315Q	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Silent_p.Q315Q|MZF1_ENST00000594234.1_Intron	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	315	Asp/Glu-rich (acidic).				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CCGTGGGGTCCTGTTCACTCC	0.692000													9	19					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1265529	1265529	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1265529A>C	ENST00000348261.5	+	30	5428	c.5180A>C	c.(5179-5181)aAg>aCg	p.K1727T	CACNA1H_ENST00000565831.1_Missense_Mutation_p.K1721T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.K1721T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1727					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTAGTGCTGAAGCTGCTGAAG	0.716000													6	9					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159785398	159785398	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159785398A>G	ENST00000368106.3	+	10	1253	c.1252A>G	c.(1252-1254)Aga>Gga	p.R418G	FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	418						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGTGAATATGAGAAGCAGGAC	0.542000													6	67					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844410	77844410	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77844410C>T	ENST00000216471.4	+	1	935	c.649C>T	c.(649-651)Cca>Tca	p.P217S	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	217										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGATTTTCCAAGTGAGAA	0.473000													38	54					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031895	79031895	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79031895C>T	ENST00000446378.2	+	2	7338	c.7307C>T	c.(7306-7308)cCt>cTt	p.P2436L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2436						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGCAAAATCCTACTTCCTTG	0.348000													13	20					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123525926	123525926	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123525926A>T	ENST00000422452.2	-	28	5727	c.5664T>A	c.(5662-5664)atT>atA	p.I1888I	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.I1881I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TATAGCTCCAAATTTTCCCAT	0.373000													9	18					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870222	140870222	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140870222T>G	ENST00000252087.1	+	1	1415	c.1415T>G	c.(1414-1416)cTt>cGt	p.L472R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		472	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGCTCCCTTCTTTGCACT	0.542000													75	92					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692633	100692633	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100692633A>C	ENST00000259456.3	-	4	1187	c.1044T>G	c.(1042-1044)caT>caG	p.H348Q		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	348					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AGTCTTCAGAATGAGGTGTTT	0.363000													11	120					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54401274	54401274	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54401274C>T	ENST00000263431.3	+	10	1283	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	PRKCG_ENST00000540413.1_Missense_Mutation_p.P334L|PRKCG_ENST00000536044.1_Missense_Mutation_p.P305S|PRKCG_ENST00000542049.1_Missense_Mutation_p.P221L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	334					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCACCGACCCCAAGCGCTGC	0.587000													30	92					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507751	28507751	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28507751A>T	ENST00000564831.1	+	2	1422	c.1389A>T	c.(1387-1389)gtA>gtT	p.V463V	APOBR_ENST00000431282.1_Silent_p.V454V|APOBR_ENST00000328423.5_Silent_p.V454V	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	454	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGGCCAGGTAGACCTGCGTG	0.637000													15	41					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19378881	19378881	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19378881T>G	ENST00000389363.4	-	7	697	c.625A>C	c.(625-627)Aga>Cga	p.R209R	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	209						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGTCCCTTTCTTTGTTCCTCT	0.527000													6	28					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994235	144994235	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144994235T>C	ENST00000322810.4	-	32	10334	c.10165A>G	c.(10165-10167)Acg>Gcg	p.T3389A	PLEC_ENST00000436759.2_Missense_Mutation_p.T3279A|PLEC_ENST00000354589.3_Missense_Mutation_p.T3252A|PLEC_ENST00000356346.3_Missense_Mutation_p.T3238A|PLEC_ENST00000527096.1_Missense_Mutation_p.T3275A|PLEC_ENST00000357649.2_Missense_Mutation_p.T3256A|PLEC_ENST00000345136.3_Missense_Mutation_p.T3252A|PLEC_ENST00000354958.2_Missense_Mutation_p.T3230A|PLEC_ENST00000398774.2_Missense_Mutation_p.T3220A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3389	Globular 2.				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						TCCCACACCGTCACCGTCCTG	0.627000													9	138					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5957967	5957967	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5957967G>A	ENST00000340578.6	-	2	97	c.40C>T	c.(40-42)Ccg>Tcg	p.P14S	RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000034275.8_Missense_Mutation_p.P14S|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000591092.1_Missense_Mutation_p.P14S|RANBP3_ENST00000439268.2_Missense_Mutation_p.P14S	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	14					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAGACGGGCGGAGCAATGGCA	0.388000													19	74					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348442	103348442	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:103348442T>G	ENST00000307584.5	+	2	869	c.804T>G	c.(802-804)gcT>gcG	p.A268A		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	268					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAAAGGAAGCTTTTAAGATGC	0.527000													33	71					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501766	134501766	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134501766A>T	ENST00000372195.1	-	10	1488	c.1245T>A	c.(1243-1245)tcT>tcA	p.S415S	RAPGEF1_ENST00000372189.3_Silent_p.S398S|RAPGEF1_ENST00000372190.3_Silent_p.S416S|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	398					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGTCTGCGTTAGAGAGGTCTT	0.557000													19	95					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617678	37617678	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37617678G>A	ENST00000399151.3	+	19	3485	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1134					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTCCCACGACCTGCAGGA	0.662000													53	54					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46880850	46880850	+	Missense_Mutation	SNP	T	T	G	rs140715783		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46880850T>G	ENST00000378623.1	-	38	5644	c.5402A>C	c.(5401-5403)aAc>aCc	p.N1801T	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1801					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTTGGTGTAGTTATGGTCAGG	0.527000													23	68					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013243	142013243	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142013243G>A	ENST00000390357.3	+	0	127																											CTGGTCATGGGAATGACAAAT	0.458000													25	36					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100689676	100689676	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100689676A>G	ENST00000259456.3	-	5	1588	c.1445T>C	c.(1444-1446)gTt>gCt	p.V482A		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	482					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAAAACAAAACATAACTATA	0.313000													20	27					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62486992	62486992	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62486992T>C	ENST00000539111.2	-	4	957	c.890A>G	c.(889-891)aAg>aGg	p.K297R		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	297					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TATTAACTCCTTTCCCCAGGG	0.428000													20	52					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306125	179306125	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179306125G>A	ENST00000356834.3	-	9	1526	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R497C	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	497						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCTGTGCGGTACATGCAC	0.617000													6	18					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34508852	34508852	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34508852C>T	ENST00000374037.3	-	3	957	c.543G>A	c.(541-543)aaG>aaA	p.K181K	SPDEF_ENST00000544425.1_Silent_p.K181K	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	181	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CGCACAGCTCCTTGCCCGCCA	0.647000													11	11					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99201651	99201651	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:99201651G>A	ENST00000550693.2	-	5	860	c.607C>T	c.(607-609)Cct>Tct	p.P203S	ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P263S|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P203S|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P111S|ANKS1B_ENST00000333732.7_Missense_Mutation_p.P43S	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	991						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTGAGAAAGGAAATCCTGCG	0.388000													10	1					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43645997	43645997	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43645997C>T	ENST00000398457.2	+	3	525	c.265C>T	c.(265-267)Cct>Tct	p.P89S	ABCG1_ENST00000343687.3_Missense_Mutation_p.P98S|ABCG1_ENST00000398449.3_Missense_Mutation_p.P87S|ABCG1_ENST00000361802.2_Missense_Mutation_p.P87S|ABCG1_ENST00000347800.2_Missense_Mutation_p.P84S|ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	87	ABC transporter.				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)	CTATTCGGTTCCTGAAGGACC	0.527000													30	108					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911441	150911441	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150911441T>G	ENST00000261800.5	-	13	9530	c.9518A>C	c.(9517-9519)aAg>aCg	p.K3173T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3173	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCAGCGGCTTTTCCAGGCG	0.652000													21	51					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883542	74883542	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:74883542C>T	ENST00000346246.5	+	6	1163	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	311	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GCCTTGAGTTCCCCAGCCGAG	0.552000													112	13					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123202104	123202104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:123202104G>A	ENST00000349780.4	-	24	3474	c.3295C>T	c.(3295-3297)Cag>Tag	p.Q1099*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q1058*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q1099*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q1067*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1099	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCTCTGACTGATCAGTCCCC	0.408000													38	21					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106117150	106117150	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:106117150G>A	ENST00000357242.5	+	21	3492	c.3318G>A	c.(3316-3318)ctG>ctA	p.L1106L	TBC1D8B_ENST00000276175.3_Silent_p.L1100L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1106						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGCCAAGCTGGAAAATGCAA	0.393000													17	31					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873692	189873692	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:189873692C>T	ENST00000304636.3	+	48	3738	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P887S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1190	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGACCTCCTGGTGCCCC	0.557000													34	19					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7360388	7360388	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7360388A>T	ENST00000266563.5	+	10	1172	c.989A>T	c.(988-990)aAg>aTg	p.K330M	PEX5_ENST00000434354.2_Missense_Mutation_p.K382M|PEX5_ENST00000455147.2_Missense_Mutation_p.K367M|PEX5_ENST00000412720.2_Missense_Mutation_p.K388M|PEX5_ENST00000420616.2_Missense_Mutation_p.K367M|PEX5_ENST00000266564.3_Missense_Mutation_p.K359M	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	367					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CAGGATCCTAAGCACATGGAA	0.542000													18	109					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921347	24921347	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:24921347C>T	ENST00000329468.2	+	1	807	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTGGACACCCCAGTTCCGTAA	0.672000													16	48					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738822	138738822	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138738822A>C	ENST00000242351.5	-	11	2523	c.2207T>G	c.(2206-2208)cTa>cGa	p.L736R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L858R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	736	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCTGGATGTAGGTGATGGAT	0.343000													7	22					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79033624	79033624	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79033624A>C	ENST00000446378.2	+	2	9067	c.9036A>C	c.(9034-9036)aaA>aaC	p.K3012N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3012						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGATGAAAAAGTTACCCCAT	0.333000													5	17					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18959709	18959709	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:18959709A>C	ENST00000379942.4	-	8	1467	c.802T>G	c.(802-804)Ttt>Gtt	p.F268V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	268					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCCACTGCAAAGGCCGGGAAG	0.408000													4	62					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20350425	20350425	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20350425C>T	ENST00000310227.1	+	1	1661	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	505					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CTGCAGGTGCCCGTGCGCCCG	0.657000													10	27					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153391	5153391	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5153391G>A	ENST00000307388.1	-	1	481	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGCCCTAAGGAAGGTATTAT	0.458000													42	41					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541013	55541013	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55541013T>A	ENST00000220676.1	+	4	4719	c.4571T>A	c.(4570-4572)aTt>aAt	p.I1524N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACGGTATAATTTATGAAATA	0.323000													17	16					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226491662	226491662	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:226491662C>T	ENST00000272907.6	+	5	2061	c.1648C>T	c.(1648-1650)Cac>Tac	p.H550Y	NYAP2_ENST00000409269.2_Missense_Mutation_p.P84L	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	550																	AGTCCGAAGCCACAGCACGGA	0.433000													5	5					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620000	56620000	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56620000A>C	ENST00000321691.3	-	1	1729	c.1548T>G	c.(1546-1548)acT>acG	p.T516T	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	516										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAAGAAAGCAGTAAACCTTT	0.522000													17	156					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675692	167675692	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:167675692T>C	ENST00000357154.3	-	9	1044	c.907A>G	c.(907-909)Aat>Gat	p.N303D	SPOCK3_ENST00000511531.1_Missense_Mutation_p.N303D|SPOCK3_ENST00000357545.4_Missense_Mutation_p.N300D|SPOCK3_ENST00000512681.1_Missense_Mutation_p.N205D|SPOCK3_ENST00000511269.1_Missense_Mutation_p.N300D|SPOCK3_ENST00000534949.1_Missense_Mutation_p.N207D|SPOCK3_ENST00000506886.1_Missense_Mutation_p.N303D|SPOCK3_ENST00000502330.1_Missense_Mutation_p.N303D|SPOCK3_ENST00000541354.1_Missense_Mutation_p.N183D|SPOCK3_ENST00000421836.2_Missense_Mutation_p.N252D|SPOCK3_ENST00000504953.1_Missense_Mutation_p.N300D|SPOCK3_ENST00000510741.1_Missense_Mutation_p.N260D|SPOCK3_ENST00000535728.1_Missense_Mutation_p.N171D|SPOCK3_ENST00000512648.1_Missense_Mutation_p.N300D|SPOCK3_ENST00000541637.1_Missense_Mutation_p.N205D|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	303					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACCACTCATTATTAGATATT	0.378000													22	47					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12958748	12958748	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:12958748T>A	ENST00000361905.4	+	13	1880	c.1215T>A	c.(1213-1215)atT>atA	p.I405I	TEAD1_ENST00000527636.1_Silent_p.I420I|TEAD1_ENST00000361985.2_Silent_p.I420I|TEAD1_ENST00000526600.1_Silent_p.I324I|TEAD1_ENST00000334310.6_Silent_p.I351I|TEAD1_ENST00000527575.1_Silent_p.I362I	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	420	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AACATCATATTTACAGGCTTG	0.378000													7	46					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653727	3653727	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3653727G>A	ENST00000263087.4	-	16	2041	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	648					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCAGCCATGGACATGCCGAA	0.622000													24	59					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216158	11216158	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11216158G>A	ENST00000558518.1	+	4	763	c.576G>A	c.(574-576)ggG>ggA	p.G192G	LDLR_ENST00000535915.1_Silent_p.G151G|LDLR_ENST00000558013.1_Silent_p.G192G|LDLR_ENST00000557933.1_Silent_p.G192G|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	192					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGTTCCAAGGGGACAGTAGCC	0.627000													30	32					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872778	136872778	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136872778G>A	ENST00000409817.1	-	1	1035	c.732C>T	c.(730-732)acC>acT	p.T244T	CXCR4_ENST00000241393.3_Silent_p.T240T|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	240				VIL -> IIP (in Ref. 12; AAK29630).	activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GGATGACTGTGGTCTTGAGGG	0.517000													18	64					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782406	107782406	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:107782406C>T	ENST00000311955.3	-	1	67	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	5					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.E5K(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTCCTTTTCGCCCGGAGCC	0.592000													15	43					0	0	1	0	0
ILK	3611	broad.mit.edu	37	11	6629302	6629302	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6629302A>T	ENST00000396751.2	+	2	572	c.116A>T	c.(115-117)cAc>cTc	p.H39L	ILK_ENST00000299421.4_Missense_Mutation_p.H39L|ILK_ENST00000528995.1_Missense_Mutation_p.H39L|ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Missense_Mutation_p.H39L	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	39	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TCCCCCTTGCACTGGGCCTGC	0.557000													26	21					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089658	86089658	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:86089658G>A	ENST00000330753.4	+	2	2567	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	FLRT2_ENST00000554746.1_Silent_p.L600L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	600					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTCCATCCTGGAGATGACAG	0.493000													99	94					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393985	154393985	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154393985C>T	ENST00000435029.4	+	1	726	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	189	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATACTGTTTCCTGTTTGGAG	0.463000													49	45					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942465	11942465	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11942465C>T	ENST00000304060.5	+	4	638	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACCGCCCCTCCTTTAGAACAC	0.423000													84	112					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539494	55539494	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55539494G>A	ENST00000220676.1	+	4	3200	c.3052G>A	c.(3052-3054)Gtt>Att	p.V1018I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1018					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTTATTTGGTTCCCCTGCA	0.373000													54	173					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17452410	17452410	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17452410G>A	ENST00000302539.4	-	12	1893	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Silent_p.L590L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	590	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGCAGGAACAGCGGTGTGACC	0.607000													87	81					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992836	21992836	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21992836A>G	ENST00000327430.3	-	2	1320	c.1026T>C	c.(1024-1026)acT>acC	p.T342T	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.T205T	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	342							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGGAGGCAGTGGCCTCAA	0.597000													4	20					0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90937285	90937285	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:90937285A>C	ENST00000451899.2	+	6	1435	c.1175A>C	c.(1174-1176)aAg>aCg	p.K392T	OSGIN2_ENST00000297438.2_Missense_Mutation_p.K348T	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	348					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCCCAAAAAGCTGTATCCT	0.383000													25	61					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196921432	196921432	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196921432G>A	ENST00000346964.2	-	5	536	c.347C>T	c.(346-348)cCt>cTt	p.P116L	DLG1_ENST00000450955.1_Missense_Mutation_p.P116L|DLG1_ENST00000419354.1_Missense_Mutation_p.P116L|DLG1_ENST00000422288.1_Missense_Mutation_p.P116L|DLG1_ENST00000448528.2_Missense_Mutation_p.P116L|DLG1_ENST00000392382.2_Missense_Mutation_p.P116L|DLG1_ENST00000357674.4_Missense_Mutation_p.P116L|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Missense_Mutation_p.P116L	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	116					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCTTGAGGAGGTGTATCTTC	0.358000													10	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575605	179575605	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179575605C>T	ENST00000589042.1	-	98	28443	c.28219G>A	c.(28219-28221)Gat>Aat	p.D9407N	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9090N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8163N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9090	Ig-like 77.						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)			ACCACAGCATCCACAGGGGCA	0.507000													21	45					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450284	50450284	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50450284G>A	ENST00000331340.3	+	5	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_ENST00000440768.2_Silent_p.Q156Q|IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Silent_p.Q69Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	16					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282593	152282593	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152282593T>C	ENST00000368799.1	-	3	4804	c.4769A>G	c.(4768-4770)cAg>cGg	p.Q1590R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1590	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGATCCCTGGCGCCTGCT	0.587000									Ichthyosis				62	235					0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46685373	46685373	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:46685373A>C	ENST00000239165.7	-	2	583	c.485T>G	c.(484-486)cTg>cGg	p.L162R	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	162						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGCCGCGTCAGGTAGCGATT	0.557000													32	84					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757067	757067	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:757067A>G	ENST00000215582.6	+	2	224	c.121A>G	c.(121-123)Agc>Ggc	p.S41G		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CCCCGAGGCCAGCGGCTGGGG	0.672000													9	24					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331180	206331180	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206331180C>T	ENST00000361052.3	+	9	1319	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	CTSE_ENST00000432969.2_Silent_p.S273S|CTSE_ENST00000360218.2_Silent_p.S348S|CTSE_ENST00000358184.2_Missense_Mutation_p.P396S			P14091	CATE_HUMAN	cathepsin E	401					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCCAGCAGTCCCCTAAGGAGG	0.522000													35	66					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662816	49662816	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49662816G>A	ENST00000296452.4	+	2	747	c.633_splice	c.e2+1	p.Q211_splice		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	211					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATCTCACCCAGGTAACCACTT	0.562000													14	31					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67770548	67770548	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67770548C>T	ENST00000227471.2	-	3	415	c.336G>A	c.(334-336)ctG>ctA	p.L112L	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	112					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGATGCCCATCAGCATTTTGC	0.602000													10	21					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2674060	2674060	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2674060A>C	ENST00000320876.6	+	5	892	c.554A>C	c.(553-555)aAt>aCt	p.N185T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.N185T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	185					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTGATAGATAATGGAAGAGGA	0.353000													4	19					0	0	1	0	0
F3	2152	broad.mit.edu	37	1	95001652	95001652	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:95001652T>C	ENST00000334047.7	-	3	444	c.281A>G	c.(280-282)gAg>gGg	p.E94G	F3_ENST00000370207.4_Missense_Mutation_p.E94G|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	94					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTTCACAATCTCGTCGGTGAG	0.473000													29	209					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70512693	70512693	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70512693C>T	ENST00000381269.2	-	8	3508	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	SLC8A3_ENST00000357887.3_Missense_Mutation_p.E917K|SLC8A3_ENST00000394330.2_Missense_Mutation_p.E276K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E917K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E916K|SLC8A3_ENST00000216568.7_Missense_Mutation_p.E290K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E913K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	919					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAATAGGCCTCTAGTGTGGCA	0.582000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56035908C>T	ENST00000244728.5	-	4	1056	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000													26	41					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256382	140256382	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140256382C>T	ENST00000398631.2	+	1	1325	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	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)			GCTAGAGTGTCCGTGGAGGTG	0.662000													55	68					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926520	1926520	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1926520G>A	ENST00000399161.2	-	10	1768	c.1021C>T	c.(1021-1023)Ctc>Ttc	p.L341F	MYT1L_ENST00000428368.2_Missense_Mutation_p.L341F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	341					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTCTCACTGAGCTTCCTGGCC	0.572000													15	23					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919732	52919732	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52919732C>T	ENST00000360465.3	+	7	2053	c.1627C>T	c.(1627-1629)Cat>Tat	p.H543Y	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAATAATTCATACTGGAGA	0.388000													49	33					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950798	12950798	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12950798T>C	ENST00000273221.4	-	11	2811	c.2595A>G	c.(2593-2595)caA>caG	p.Q865Q		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	865	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTCCATCTCTTGGACTTCCG	0.537000													9	97					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479573	4479573	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4479573C>T	ENST00000237837.1	-	3	837	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	231					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTGTTCACTCGACCGCCCCT	0.672000													33	48					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750357	164750357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164750357G>A	ENST00000264382.3	-	24	2751	c.2689C>T	c.(2689-2691)Caa>Taa	p.Q897*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	897	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATTGGTTGATTATTTTCC	0.323000										HNSCC(35;0.089)			21	63					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684035	6684035	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:6684035T>C	ENST00000321535.4	+	2	978	c.848T>C	c.(847-849)cTg>cCg	p.L283P		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	283										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GCCACCAATCTGAAGGTGAAC	0.552000													16	30					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033821	228033821	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:228033821C>T	ENST00000366757.3	+	5	917	c.893C>T	c.(892-894)cCt>cTt	p.P298L		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	298					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACGCCCACTCCTGCTCAGCCA	0.562000													35	38					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98165022	98165022	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:98165022T>G	ENST00000370192.3	-	6	665	c.565A>C	c.(565-567)Aag>Cag	p.K189Q	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	189					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAGCAATCTTTGCAGAATAG	0.418000													90	100					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904457	55904457	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55904457T>G	ENST00000301529.1	-	1	737	c.738A>C	c.(736-738)atA>atC	p.I246I		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CCGTGACTGCTATCATATGCG	0.398000													33	33					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138400601	138400601	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138400601T>G	ENST00000310018.2	-	20	2447	c.2165A>C	c.(2164-2166)cAc>cCc	p.H722P	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.H722P|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.H722P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	722					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GATGGCTTGGTGGACAAAGAC	0.463000													19	105					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580531	53580531	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:53580531C>T	ENST00000371494.4	-	3	457	c.330G>A	c.(328-330)atG>atA	p.M110I	SLC1A7_ENST00000371491.4_Missense_Mutation_p.M110I|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	110						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	TGATGGAGACCATGAAGATGC	0.617000													28	24					0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10521636	10521636	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10521636A>G	ENST00000377038.3	-	6	974	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	303					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGAGAATGCAAGCTCTGCGTC	0.592000													17	52					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503584	105503584	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105503584T>C	ENST00000276654.5	-	7	2005	c.1897A>G	c.(1897-1899)Agt>Ggt	p.S633G	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S614G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	633					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTACTGGTACTCTGACTAGGG	0.423000													4	62					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7026224	7026224	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7026224A>T	ENST00000535366.1	+	4	889	c.263A>T	c.(262-264)gAg>gTg	p.E88V	ENO2_ENST00000541477.1_Missense_Mutation_p.E88V|ENO2_ENST00000545045.2_Missense_Mutation_p.E88V|ENO2_ENST00000544774.1_Intron|ENO2_ENST00000538763.1_Intron|ENO2_ENST00000229277.1_Missense_Mutation_p.E88V			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	88					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GTGGAGCAAGAGAAACTGGAC	0.617000													7	122					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207572175	207572175	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207572175G>A	ENST00000452335.2	-	3	263	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	49						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAGCTTCCCAGAAACTTGGAC	0.493000													6	13					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19348763	19348763	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:19348763G>A	ENST00000263208.5	-	17	2338	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Silent_p.L650L|HIRA_ENST00000546308.1_Silent_p.L650L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	694	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AACTTACCTGGAGGGTGAATG	0.542000													12	31					0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16735625	16735625	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:16735625C>T	ENST00000579062.1	-	0	263																											CACGGATCTTCACTTCCAGGT	0.592000													113	156					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85630540	85630540	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85630540A>C	ENST00000280245.4	+	12	1834	c.1322A>C	c.(1321-1323)aAg>aCg	p.K441T	CCDC83_ENST00000342404.3_Missense_Mutation_p.K410T|CCDC83_ENST00000376067.1_Missense_Mutation_p.K310T|RP11-90K17.2_ENST00000531414.1_RNA	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	410										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAGATGATGAAGTCTTTTCTC	0.373000													9	12					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196971746	196971746	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196971746G>A	ENST00000367414.5	+	8	1410	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	CFHR5_ENST00000256785.4_Missense_Mutation_p.E428K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	428	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAAGCAAAAGAAATTGTATG	0.348000													12	28					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815679	31815679	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:31815679T>G	ENST00000446923.2	+	9	3205	c.2814T>G	c.(2812-2814)caT>caG	p.H938Q	ZEB1_ENST00000560721.2_Missense_Mutation_p.H934Q|ZEB1_ENST00000542815.3_Missense_Mutation_p.H887Q|ZEB1_ENST00000320985.10_Missense_Mutation_p.H954Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.H955Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	954					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGCGATTACATTCTGGAGAAA	0.378000													7	52					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72861604	72861604	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:72861604A>G	ENST00000339594.4	-	16	4172	c.3834T>C	c.(3832-3834)gcT>gcC	p.A1278A	BAZ1B_ENST00000404251.1_Silent_p.A1278A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1278					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATCGCAAACCAGCCACCTCAT	0.468000													14	106					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27598827	27598827	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27598827A>G	ENST00000233575.2	+	11	1315	c.1093A>G	c.(1093-1095)Act>Gct	p.T365A	SNX17_ENST00000542478.1_Missense_Mutation_p.T151A|SNX17_ENST00000537606.1_Missense_Mutation_p.T340A|SNX17_ENST00000543024.1_Missense_Mutation_p.T151A	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	365					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCACCATCACTAGCCCCCA	0.582000													5	55					0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41399595	41399595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:41399595C>T	ENST00000276533.3	+	8	871	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000523277.2_3'UTR|RP11-360L9.7_ENST00000578500.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA|GINS4_ENST00000518671.1_Nonsense_Mutation_p.Q221*	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	221	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TGGAGCTGTCCAGCTAATTTA	0.517000													27	40					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853511	182853511	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182853511C>T	ENST00000265598.3	-	5	1366	c.1111G>A	c.(1111-1113)Gga>Aga	p.G371R	LAMP3_ENST00000466939.1_Missense_Mutation_p.G347R	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	371					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TTACCATTTCCAAAGTGGTCA	0.473000													40	253					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179334802	179334802	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:179334802C>T	ENST00000493866.1	+	2	181	c.156C>T	c.(154-156)ggC>ggT	p.G52G	NDUFB5_ENST00000259037.3_Silent_p.G104G|NDUFB5_ENST00000472629.1_Silent_p.G92G|NDUFB5_ENST00000473500.1_3'UTR	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	104					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTCCAGAAGGCTATGTCCCAG	0.323000													18	51					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197091051	197091051	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197091051G>A	ENST00000367409.4	-	16	4120	c.3864C>T	c.(3862-3864)cgC>cgT	p.R1288R	ASPM_ENST00000367408.1_Silent_p.R538R|ASPM_ENST00000294732.7_Silent_p.R1288R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1288					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTACCTGATGGCGTTTGAGAT	0.313000													24	25					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136078051	136078051	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:136078051A>C	ENST00000383202.2	-	27	3131	c.2875T>G	c.(2875-2877)Ttt>Gtt	p.F959V	STAG1_ENST00000236698.5_Missense_Mutation_p.F959V|STAG1_ENST00000434713.2_Missense_Mutation_p.F699V|STAG1_ENST00000536929.1_Missense_Mutation_p.F543V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	959					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAAGGGCAAAGCGACGTGCC	0.413000													13	74					0	0	1	0	0
SPTSSB	165679	broad.mit.edu	37	3	161064090	161064090	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:161064090C>T	ENST00000359175.4	-	3	1592	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	SPTSSB_ENST00000497137.1_Missense_Mutation_p.E8K	NM_001040100.1	NP_001035189.1	Q8NFR3	SSPTB_HUMAN	serine palmitoyltransferase, small subunit B	8					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										GAGAAATATTCCTTCACACGC	0.413000													62	3					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9535889	9535889	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9535889C>T	ENST00000019317.4	+	10	2145	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RALBP1_ENST00000383432.3_Missense_Mutation_p.P641L			Q15311	RBP1_HUMAN	ralA binding protein 1	641					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GGCAAGGAGCCGGCAAAGCCA	0.632000													11	14					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201782368	201782368	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201782368A>G	ENST00000367296.4	+	28	5742	c.5322A>G	c.(5320-5322)ggA>ggG	p.G1774G	NAV1_ENST00000295624.6_Silent_p.G1771G|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.G1727G|NAV1_ENST00000367295.1_Silent_p.G1380G|NAV1_ENST00000367297.4_Silent_p.G1766G|NAV1_ENST00000367300.3_Silent_p.G1714G	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1774					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TACAGGAAGGAGCCAAGGATG	0.478000													7	39					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54161968	54161968	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:54161968T>G	ENST00000375180.2	-	6	1384	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	FAM120C_ENST00000328235.4_Missense_Mutation_p.K443T	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	443										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TACCATTGGCTTTCCAGCAGA	0.418000													3	10					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543260	182543260	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:182543260C>T	ENST00000295108.3	-	2	785	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	110					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGGTTCCGCTCCCGGGCGTTA	0.542000													33	13					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26520299	26520299	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26520299A>C	ENST00000456354.2	+	3	446	c.379A>C	c.(379-381)Acc>Ccc	p.T127P		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	127					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGTTCTCTACCATAGATGA	0.512000													19	121					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815312	179815312	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179815312T>G	ENST00000367612.3	-	6	1694	c.1307A>C	c.(1306-1308)aAc>aCc	p.N436T		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	436						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GTCCATGTGGTTGAAGGAGGT	0.498000													8	92					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2687680	2687680	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2687680C>T	ENST00000258796.7	+	5	919	c.714C>T	c.(712-714)atC>atT	p.I238I	TTYH3_ENST00000403167.1_Silent_p.I67I|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Intron	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	238						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCAAGGGCATCCTGGTGGGGT	0.662000													26	42					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75471610	75471610	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:75471610A>C	ENST00000427180.1	+	1	286	c.10A>C	c.(10-12)Agt>Cgt	p.S4R	SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000427674.2_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	0					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CATGGGCTCAAGTTTCTGGGA	0.612000													5	20					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407550	50407550	+	Missense_Mutation	SNP	G	G	A	rs141604488		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:50407550G>A	ENST00000217086.4	-	2	1583	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	491					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTAGTCCCCGAAGAAAGATT	0.562000													47	140					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619993	24619993	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24619993C>T	ENST00000324103.6	+	8	1704	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	RNF31_ENST00000559275.1_Missense_Mutation_p.P311S|RNF31_ENST00000382687.3_Missense_Mutation_p.P311S	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	462	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCCTGGGCCCCCACGACGCCT	0.602000													20	49					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780405	91780405	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91780405C>T	ENST00000389857.6	-	15	1841	c.1755G>A	c.(1753-1755)atG>atA	p.M585I		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	585					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCACGTCTTTCATGCGGGCCT	0.587000													15	22					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60899167	60899167	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60899167A>C	ENST00000252999.3	-	43	5803	c.5737T>G	c.(5737-5739)Tgc>Ggc	p.C1913G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1913	Laminin EGF-like 18.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCAGGGGCAGCTGACACAG	0.692000													9	26					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220101634	220101634	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220101634G>A	ENST00000366926.3	-	1	310	c.149C>T	c.(148-150)tCg>tTg	p.S50L	SLC30A10_ENST00000536446.1_Intron|SLC30A10_ENST00000536992.1_Missense_Mutation_p.S50L	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	50					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CACGCACAGCGAGATCAGGTC	0.701000													5	13					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492152	42492152	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42492152G>A	ENST00000545399.1	-	4	485	c.332C>T	c.(331-333)gCt>gTt	p.A111V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A68V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A109V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A98V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	98					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCAGAGGATAGCCCCGATCCA	0.642000													75	98					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784260	82784260	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82784260G>A	ENST00000423517.2	-	2	2034	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	PCLO_ENST00000333891.8_Missense_Mutation_p.P566L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	512	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGCAGAGGTTTTCCAGA	0.512000													176	182					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4492304	4492304	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4492304G>A	ENST00000262375.6	+	5	743	c.666G>A	c.(664-666)aaG>aaA	p.K222K	DNAJA3_ENST00000355296.4_Silent_p.K222K|DNAJA3_ENST00000431375.2_Silent_p.K69K	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	222					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						AAGCTGCAAAGGGGGTCAACA	0.517000													37	29					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027070	37027070	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:37027070C>T	ENST00000358047.3	+	1	639	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	196										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGGGTGTCCTGTCTCCCC	0.642000													26	1					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54324655	54324655	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:54324655T>C	ENST00000354646.2	-	7	1789	c.1351A>G	c.(1351-1353)Agt>Ggt	p.S451G	WNK3_ENST00000375159.2_Missense_Mutation_p.S451G|WNK3_ENST00000375169.3_Missense_Mutation_p.S451G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	451					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGTTGAAACTAAATTCAATA	0.353000													15	0					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757802	62757802	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:62757802G>A	ENST00000281156.4	-	3	595	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	106	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATCTCTCATTGATCCTTTGCC	0.398000													38	51					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47282031	47282031	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:47282031A>G	ENST00000542575.2	-	5	1587	c.959T>C	c.(958-960)gTa>gCa	p.V320A	SLC1A5_ENST00000412532.2_Missense_Mutation_p.V92A|SLC1A5_ENST00000594991.1_Missense_Mutation_p.V144A|SLC1A5_ENST00000434726.2_Missense_Mutation_p.V118A	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	320					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GAGGGGCAGTACCAGGAGCCC	0.592000													11	86					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71209534	71209534	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:71209534G>A	ENST00000393567.2	-	5	642	c.492C>T	c.(490-492)atC>atT	p.I164I	HYDIN_ENST00000393550.2_Silent_p.I164I|HYDIN_ENST00000321489.5_Silent_p.I164I|HYDIN_ENST00000541601.1_Silent_p.I181I|HYDIN_ENST00000288168.10_Silent_p.I181I|HYDIN_ENST00000448089.2_Silent_p.I164I|HYDIN_ENST00000448691.1_Silent_p.I164I|HYDIN_ENST00000538248.1_Silent_p.I191I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	164										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGTAAAGAGGATTCGGAATA	0.433000													14	35					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226349258	226349258	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226349258T>G	ENST00000366812.5	-	4	756	c.702A>C	c.(700-702)gaA>gaC	p.E234D	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	234	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GAAGcctttcttcttctatcc	0.393000													10	78					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065995	23065995	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23065995C>T	ENST00000246006.4	-	1	982	c.835G>A	c.(835-837)Ggg>Agg	p.G279R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	279	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAGCCATCCCCCCCTTCAAAG	0.627000													84	112					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156348107	156348107	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156348107C>T	ENST00000400992.2	+	4	862	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RHBG_ENST00000451864.2_Missense_Mutation_p.S165L|RHBG_ENST00000255013.3_Missense_Mutation_p.S128L|RHBG_ENST00000368246.2_Missense_Mutation_p.S197L|RHBG_ENST00000368249.1_Missense_Mutation_p.S197L|RHBG_ENST00000537040.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	197					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCGTCCTTTCGCGGGTTCTG	0.627000													98	108					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193883	60193883	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:60193883C>T	ENST00000267484.5	-	3	1854	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	507					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCACGCTCCTCGGCCCGGACG	0.726000													7	8					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2819075	2819075	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2819075A>C	ENST00000301740.8	+	12	8360	c.7811A>C	c.(7810-7812)aAg>aCg	p.K2604T	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2604	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAAACGGAAGAGGCGCTCT	0.607000													10	30					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41822725	41822725	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41822725C>T	ENST00000269967.3	+	2	605	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	161										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCTATGCTGCCCTGCGAGAGC	0.642000													13	42					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914566	213914566	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:213914566A>T	ENST00000457361.1	-	5	613	c.445T>A	c.(445-447)Ttt>Att	p.F149I	IKZF2_ENST00000451136.2_Missense_Mutation_p.F123I|IKZF2_ENST00000421754.2_Missense_Mutation_p.F123I|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Missense_Mutation_p.F149I|IKZF2_ENST00000434687.1_Missense_Mutation_p.F149I|IKZF2_ENST00000342002.2_Missense_Mutation_p.F155I|IKZF2_ENST00000374319.4_Missense_Mutation_p.F123I	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TTCTGAGTAAAAGAAGCTCCA	0.468000													9	19					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848461	92848461	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92848461C>T	ENST00000394468.2	-	2	460	c.383G>A	c.(382-384)gGa>gAa	p.G128E	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G116E|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G116E|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G151E	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	128						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGTTCCATTTCCCTGAATGTT	0.478000													23	28					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689011	43689011	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43689011C>T	ENST00000404580.1	-	2	441	c.353G>A	c.(352-354)gGa>gAa	p.G118E	PSG5_ENST00000366175.3_Missense_Mutation_p.G118E|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.G118E|PSG5_ENST00000407356.1_Missense_Mutation_p.G118E|PSG5_ENST00000599812.1_Missense_Mutation_p.G118E|PSG5_ENST00000407568.1_Missense_Mutation_p.G118E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	118	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTGTAGGATCCTGCGTCTTC	0.448000													179	205					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75684939	75684939	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:75684939G>A	ENST00000394947.3	-	15	2809	c.2495C>T	c.(2494-2496)tCa>tTa	p.S832L	SIN3A_ENST00000394949.4_Missense_Mutation_p.S832L|SIN3A_ENST00000360439.4_Missense_Mutation_p.S832L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	832	Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCCACATCTGAGAGATCACC	0.448000													63	3					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:138414689G>A	ENST00000409968.1	+	24	4512	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000													16	23					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70742364	70742364	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:70742364A>T	ENST00000354185.4	+	15	2246	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	716						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AACTGGAAGGACCACGGGAAG	0.537000													12	34					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	800138	800138	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:800138T>G	ENST00000347755.5	-	14	2408	c.2267A>C	c.(2266-2268)aAg>aCg	p.K756T	PIDD_ENST00000411829.2_Missense_Mutation_p.K739T	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	756					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CACCGGCAGCTTGATGGGCAG	0.701000													3	14					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47345289	47345289	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47345289A>C	ENST00000342922.4	+	28	4625	c.4268A>C	c.(4267-4269)aAg>aCg	p.K1423T	MADD_ENST00000402192.2_Missense_Mutation_p.K1422T|MADD_ENST00000349238.3_Missense_Mutation_p.K1443T|MADD_ENST00000402799.1_Missense_Mutation_p.K1380T|MADD_ENST00000406482.1_Missense_Mutation_p.K1380T|MADD_ENST00000395336.3_Missense_Mutation_p.K1482T|MADD_ENST00000405573.2_Missense_Mutation_p.K292T|MADD_ENST00000311027.5_Missense_Mutation_p.K1482T|MADD_ENST00000407859.3_Missense_Mutation_p.K1400T|MADD_ENST00000395344.3_Missense_Mutation_p.K1376T	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1482					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGGTACGAGAAGCTCATCAAC	0.498000													15	70					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877191	76877191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76877191C>T	ENST00000409709.3	+	15	2052	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	MYO7A_ENST00000409619.2_Nonsense_Mutation_p.Q583*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.Q594*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.Q594*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	594	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGATCTTCCAGGCCGATGT	0.592000													24	23					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870106	140870106	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140870106C>T	ENST00000252087.1	+	1	1299	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		433	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCACCTTCCCTACACAAAC	0.517000													76	91					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679314	37679314	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:37679314G>A	ENST00000379800.3	-	1	489	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	27	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.S27F(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTCTCCAAAGGAGCCAGACCC	0.542000													47	69					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117631542	117631542	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:117631542C>T	ENST00000369466.3	+	13	2324	c.2280C>T	c.(2278-2280)gcC>gcT	p.A760A		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	760	Helicase ATP-binding.				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)		AAGCCTGTGCCCGTTGGGCTG	0.453000													36	125					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36948630	36948630	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36948630T>G	ENST00000262865.4	+	7	811	c.722T>G	c.(721-723)gTg>gGg	p.V241G	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	241	Cleavage sites for elastase (Potential).				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TATGGTCTGGTGGCACCTCCA	0.512000													8	40					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38921755	38921755	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38921755G>A	ENST00000274276.3	+	12	2026	c.1624G>A	c.(1624-1626)Gga>Aga	p.G542R		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	542	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CACAGAGGGTGGATTCTCTCT	0.423000													21	121					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901649	54901649	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:54901649G>A	ENST00000293373.6	+	4	398	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E57K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	107					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCATGTATATGAACTTCTCAA	0.423000													41	49					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642466	129642466	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:129642466C>T	ENST00000319119.4	+	2	873	c.788C>T	c.(787-789)aCc>aTc	p.T263I	ZBTB34_ENST00000373452.2_Missense_Mutation_p.T259I	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGGTACCACACCGAGATGGTT	0.572000													26	52					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149499034	149499034	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149499034G>A	ENST00000378016.2	+	0	7486							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCGGACGAGGATGGCTGTGG	0.692000													9	11					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429207	23429207	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23429207T>G	ENST00000519973.1	+	4	1054	c.856T>G	c.(856-858)Ttc>Gtc	p.F286V		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	286					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GGCCAATGCCTTCCGGACGGT	0.612000													9	47					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131745611	131745611	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:131745611T>C	ENST00000372577.2	+	18	1857	c.1836T>C	c.(1834-1836)gcT>gcC	p.A612A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	612					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGTCATTGCTTCTTGTGTCA	0.448000													33	78					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945370	55945370	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:55945370T>G	ENST00000394256.2	+	1	388	c.360T>G	c.(358-360)cgT>cgG	p.R120R	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTATGATCGTTATGTGGCCA	0.443000													5	53					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10703308	10703308	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10703308G>A	ENST00000377022.3	-	19	4246	c.3929C>T	c.(3928-3930)tCc>tTc	p.S1310F	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAGGAGGAAGGAGAACTGGCA	0.637000													26	59					0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128810153	128810153	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:128810153G>A	ENST00000315150.5	-	3	725	c.425C>T	c.(424-426)tCc>tTc	p.S142F	RAB43_ENST00000393307.1_Missense_Mutation_p.S142F|ISY1-RAB43_ENST00000418265.1_3'UTR|RAB43_ENST00000393308.1_Missense_Mutation_p.S142F|RAB43_ENST00000393305.1_Missense_Mutation_p.S142F|RAB43_ENST00000393304.1_Missense_Mutation_p.S142F|RAB43_ENST00000476465.1_3'UTR	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	142					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						CTCAGCCAAGGAGACCTCCCG	0.627000													6	13					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114376966	114376966	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114376966T>G	ENST00000359785.5	-	15	2125	c.1990A>C	c.(1990-1992)Aaa>Caa	p.K664Q	PTPN22_ENST00000420377.2_Missense_Mutation_p.K664Q|PTPN22_ENST00000528414.1_Missense_Mutation_p.K609Q|PTPN22_ENST00000525799.1_Missense_Mutation_p.K537Q|PTPN22_ENST00000538253.1_Missense_Mutation_p.K420Q|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	664					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATCAAATTTCTTTGGTTCA	0.368000													15	62					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96079800	96079800	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96079800A>G	ENST00000297954.4	+	29	6627		c.e29-1		WNK2_ENST00000349097.3_Splice_Site|WNK2_ENST00000356055.3_Splice_Site|WNK2_ENST00000427277.2_Splice_Site|WNK2_ENST00000395475.2_Splice_Site|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000395477.2_Splice_Site			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2						intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGTGTTTTGTAGATGACCGCA	0.642000													12	35					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438057	58438057	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58438057G>A	ENST00000396147.1	-	4	1783	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.R413C|ZNF418_ENST00000425570.3_Missense_Mutation_p.R519C|ZNF418_ENST00000595830.1_Missense_Mutation_p.R498C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGATGAACACGAAACCCAGAG	0.458000													68	158					0	0	1	0	0
EDF1	8721	broad.mit.edu	37	9	139758301	139758301	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139758301C>T	ENST00000371648.4	-	2	108	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	EDF1_ENST00000224073.1_Missense_Mutation_p.R34Q|EDF1_ENST00000371649.1_Missense_Mutation_p.R34Q	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	34					endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATCTTCTCCTCGTCTCTGTGC	0.473000													15	57					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129781440	129781440	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129781440A>G	ENST00000421865.2	+	49	7012	c.6963A>G	c.(6961-6963)aaA>aaG	p.K2321K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2321	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCGAGAAAAAGAAGGTGACT	0.418000													28	28					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20350426	20350426	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:20350426C>T	ENST00000310227.1	+	1	1662	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	505					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TGCAGGTGCCCGTGCGCCCGG	0.662000													17	20					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453337	195453337	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195453337G>A	ENST00000320736.6	+	3	1476	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MUC20_ENST00000436408.1_Silent_p.T621T|MUC20_ENST00000445522.2_Silent_p.T586T|MUC20_ENST00000447234.2_Silent_p.T621T	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	621	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GCCGAGGGACGAACAGCACCT	0.617000													47	158					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822440	26822440	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:26822440G>A	ENST00000376236.4	+	9	1341	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	296					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TAAGAACAAGGAATCCTTACT	0.318000													8	17					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112806	248112806	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248112806C>T	ENST00000357191.3	+	1	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATTTCATGTTCCTATGGCCAG	0.483000													19	66					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950539	235950539	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:235950539C>T	ENST00000409212.1	+	4	1633	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.P376S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.P376S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	376					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCATCAGCCCTGTGCTGGA	0.552000													15	28					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898777	28898777	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28898777G>A	ENST00000395503.4	+	8	846	c.662G>A	c.(661-663)gGc>gAc	p.G221D	ATP2A1_ENST00000357084.3_Missense_Mutation_p.G221D|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G96D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	221					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AAGGCCTTGGGCATCGTGGCC	0.602000													14	33					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38179241	38179241	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38179241C>T	ENST00000407257.1	+	2	1030	c.883C>T	c.(883-885)Cca>Tca	p.P295S	RMDN2_ENST00000234195.3_Missense_Mutation_p.P295S|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Missense_Mutation_p.P295S|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000406384.1_Intron					regulator of microtubule dynamics 2																		TTGCTTTATCCCACCTCAAAG	0.378000													36	40					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722465	150722465	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150722465G>A	ENST00000335244.4	-	4	553	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	SLC36A2_ENST00000521967.1_Missense_Mutation_p.H142Y	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	142					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGAGCGTGATTCTGGAGC	0.527000													14	17					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200965480	200965480	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200965480C>T	ENST00000332129.2	-	15	2437	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	KIF21B_ENST00000422435.2_Silent_p.K707K|KIF21B_ENST00000360529.5_Silent_p.K707K|KIF21B_ENST00000461742.2_Silent_p.K707K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	707					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CATAGTCTGCCTTGATCTTGT	0.582000													46	163					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261042	32261042	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32261042C>T	ENST00000375015.4	-	26	1605	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	C6orf10_ENST00000527965.1_Missense_Mutation_p.E454K|C6orf10_ENST00000533191.1_Missense_Mutation_p.E468K|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000447241.2_Missense_Mutation_p.E470K|C6orf10_ENST00000375007.4_Missense_Mutation_p.E468K			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	470						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACTTGGGATTCCAGTGTTTCT	0.408000													106	133					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37512591	37512591	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37512591C>T	ENST00000432825.2	-	11	2872	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.E467K	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	942						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TAACCACCTTCCACCCGGGCT	0.592000													73	61					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958783	111958783	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:111958783G>A	ENST00000305815.5	-	12	1602	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	SLC9C1_ENST00000487372.1_Silent_p.T402T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	450					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTGCAGACTTGGTTAGCTCTT	0.363000													20	2					0	0	1	0	0
CREG1	8804	broad.mit.edu	37	1	167515373	167515373	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167515373G>A	ENST00000370509.4	-	3	649	c.624C>T	c.(622-624)atC>atT	p.I208I	CREG1_ENST00000466652.1_5'UTR	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	208					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										CTGGTGTCACGATTTTTGGTC	0.428000													13	13					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065739	9065739	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9065739A>T	ENST00000397910.4	-	3	21910	c.21707T>A	c.(21706-21708)aTt>aAt	p.I7236N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7238	Ser-rich.|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						CTCTTTCTGAATTCTGCTAGT	0.468000													82	91					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883310	19883310	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19883310G>A	ENST00000300571.2	-	2	1049	c.858C>T	c.(856-858)ttC>ttT	p.F286F	GPRC5B_ENST00000535671.1_Silent_p.F286F|GPRC5B_ENST00000537135.1_Silent_p.F312F|GPRC5B_ENST00000569479.1_Silent_p.F286F|GPRC5B_ENST00000569847.1_Silent_p.F286F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	286										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGATGGCGTGGAAGATGACGA	0.632000													17	28					0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41397211	41397211	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:41397211C>T	ENST00000523277.2	+	5	479	c.312C>T	c.(310-312)ttC>ttT	p.F104F	RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000518671.1_Silent_p.F104F|GINS4_ENST00000276533.3_Silent_p.F104F			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	104					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGAAGTTTTTCCCTCATGTCC	0.458000													25	51					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640478	99640478	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:99640478A>C	ENST00000547776.2	-	13	1920	c.1921T>G	c.(1921-1923)Ttg>Gtg	p.L641V	ANKS1B_ENST00000547010.1_Missense_Mutation_p.L221V|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.L641V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	641						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTGTTTGCCAAACTGACTTCA	0.403000													9	19					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75190470	75190470	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:75190470T>C	ENST00000417775.1	-	3	540	c.36A>G	c.(34-36)agA>agG	p.R12R	CRYZ_ENST00000340866.5_Silent_p.R12R|CRYZ_ENST00000370871.3_Silent_p.R12R|CRYZ_ENST00000370872.3_Intron	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	12					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	ATTCAAAAACTCTAACAGCTC	0.368000													16	57					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730547	179730547	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179730547G>A	ENST00000420890.2	-	17	2788	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	CCDC141_ENST00000295723.5_Missense_Mutation_p.R316W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	316							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GACAGGGTCCGTCCATACTCC	0.527000													161	89					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609150	21609150	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:21609150A>G	ENST00000425654.2	+	14	2058	c.1578A>G	c.(1576-1578)gcA>gcG	p.A526A	CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Silent_p.A556A|CNKSR2_ENST00000379510.3_Silent_p.A556A|CNKSR2_ENST00000543067.1_Silent_p.A507A	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	556					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCCTATAGCAGGCAAGAGCA	0.393000													15	95					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816927	55816927	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55816927A>C	ENST00000309383.1	+	16	2140	c.1863A>C	c.(1861-1863)aaA>aaC	p.K621N	BRSK1_ENST00000590333.1_Missense_Mutation_p.K637N|BRSK1_ENST00000326848.7_Missense_Mutation_p.K316N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	621					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCAGCATCAAAGCAGACATCG	0.557000													13	501					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956005	48956005	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48956005C>T	ENST00000253237.5	+	7	1297	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	355						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CACGTGGCCCCCGTGACCTCC	0.652000													41	58					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124317792	124317792	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124317792T>G	ENST00000409039.3	+	26	4348	c.4323T>G	c.(4321-4323)acT>acG	p.T1441T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1441	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGACAACACTTTCAACCTGC	0.428000													3	12					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440778	168440778	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:168440778C>T	ENST00000443060.2	+	7	919	c.528C>T	c.(526-528)ctC>ctT	p.L176L	KIF25_ENST00000354419.2_Silent_p.L176L|KIF25_ENST00000351261.3_Silent_p.L176L			Q9UIL4	KIF25_HUMAN	kinesin family member 25	176	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATGGAGCTCGTTCATGGAG	0.597000													56	4					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144618540	144618540	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144618540C>T	ENST00000262577.5	-	3	1479	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	483					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTCTTCCCCCTGAGGGCCTG	0.642000													8	9					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117304798	117304798	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117304798G>A	ENST00000003084.6	+	25	4152	c.4020G>A	c.(4018-4020)gtG>gtA	p.V1340V	CFTR_ENST00000454343.1_Silent_p.V1279V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1340	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGTCCTTGTGGATGGGGGCT	0.473000									Cystic Fibrosis				48	61					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956169	55956169	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:55956169A>C	ENST00000263923.4	-	23	3441	c.3146T>G	c.(3145-3147)tTg>tGg	p.L1049W	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1049	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCCGGGCCAAGCCAAAGTC	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			34	28					0	0	1	0	0
METTL9	51108	broad.mit.edu	37	16	21636421	21636421	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:21636421C>T	ENST00000358154.3	+	4	994	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	METTL9_ENST00000396014.4_Missense_Mutation_p.P246S	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	246										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CCCCTTTCATCCCTATGTGGA	0.448000													26	17					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	C	T	rs150366522		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248512475C>T	ENST00000317861.1	+	1	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000													23	40					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863081	23863081	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23863081C>T	ENST00000405093.3	-	22	2792	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N	MYH6_ENST00000356287.3_Missense_Mutation_p.D908N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	908					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATCAGCTGGTCGCAGCGCTCC	0.498000													32	47					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112493822	112493822	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:112493822C>T	ENST00000230538.7	-	12	1939	c.1542G>A	c.(1540-1542)cgG>cgA	p.R514R	LAMA4_ENST00000424408.2_Silent_p.R507R|LAMA4_ENST00000389463.4_Silent_p.R507R|LAMA4_ENST00000522006.1_Silent_p.R507R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	514	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTCATGGTCCCGCTGCCTGG	0.478000													13	22					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970883	151970883	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151970883G>A	ENST00000355193.2	-	7	1137	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.H307Y					lysine (K)-specific methyltransferase 2C																		CAAGGATAATGATACATCTGG	0.438000													7	172					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77288529C>T	ENST00000388914.3	-	11	1900	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	583								p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458000													18	46					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912138	150912138	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:150912138A>C	ENST00000329903.4	+	6	1196	c.1163A>C	c.(1162-1164)aAg>aCg	p.K388T		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	388					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGGCTAAGATCGATGCC	0.502000													5	46					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670038	44670038	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44670038G>A	ENST00000454036.1	+	8	1070	c.994G>A	c.(994-996)Gga>Aga	p.G332R	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309R|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCTTGGGAAGGAAATGAGAC	0.552000													48	44					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138114	31138114	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:31138114T>G	ENST00000538351.1	-	7	1827	c.1073A>C	c.(1072-1074)aAg>aCg	p.K358T	ZNF438_ENST00000413025.1_Missense_Mutation_p.K407T|ZNF438_ENST00000361310.3_Missense_Mutation_p.K407T|ZNF438_ENST00000331737.6_Missense_Mutation_p.K397T|ZNF438_ENST00000452305.1_Missense_Mutation_p.K397T|ZNF438_ENST00000442986.1_Missense_Mutation_p.K407T|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000444692.2_Missense_Mutation_p.K397T|ZNF438_ENST00000436087.2_Missense_Mutation_p.K407T	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATCTCTACACTTATTAATGAT	0.383000													17	34					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173744919	173744919	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:173744919A>G	ENST00000209884.4	+	10	1712	c.1576A>G	c.(1576-1578)Aga>Gga	p.R526G	KLHL20_ENST00000546011.1_Missense_Mutation_p.R337G	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	526					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGCTGAGAGATACAACCC	0.502000													16	69					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171504	39171504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:39171504G>A	ENST00000297668.6	-	8	1268	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.R311*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.R399*|CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.R399*|CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.R399*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	399	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCCACGTTCGAAATTGAAAA	0.498000													4	29					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873090	51873090	+	Silent	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:51873090G>T	ENST00000371497.5	+	2	3980	c.3093G>T	c.(3091-3093)gtG>gtT	p.V1031V	TSHZ2_ENST00000329613.6_Silent_p.V1028V|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.V1028V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1031					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAACAGACGTGGATGAAGAAT	0.493000													27	93					3.90053e-15	3.92886e-15	1	1	0
SLC6A13	6540	broad.mit.edu	37	12	344360	344360	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:344360G>A	ENST00000343164.4	-	7	779	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	SLC6A13_ENST00000445055.2_Missense_Mutation_p.L151F	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	243					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCAGCATGAGGTAAGGAAAT	0.562000													16	35					0	0	1	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757688	106757688	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106757688C>T	ENST00000390611.2	-	0	342																											TCCACAGGGTCCATGTTGGTC	0.517000													78	74					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35879046	35879046	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:35879046G>A	ENST00000339208.6	-	22	4082	c.3942C>T	c.(3940-3942)ctC>ctT	p.L1314L	SYNRG_ENST00000346661.4_Silent_p.L1302L|SYNRG_ENST00000394378.2_Silent_p.L1259L|SYNRG_ENST00000502449.2_Silent_p.L1179L|SYNRG_ENST00000345615.4_Silent_p.L1224L|SYNRG_ENST00000585472.1_Silent_p.L1235L|SYNRG_ENST00000591288.1_Silent_p.L1108L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1314					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGTTGTTCAGAGCAGGTCAG	0.527000													41	133					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029253	68029253	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68029253G>A	ENST00000329153.5	+	7	1037	c.905G>A	c.(904-906)aGg>aAg	p.R302K		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	302						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACCTCTGCCAGGGAAGGTGGT	0.597000													5	25					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315890	125315890	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125315890C>T	ENST00000373688.2	+	1	500	c.442C>T	c.(442-444)Cat>Tat	p.H148Y		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCAACCACTCCATTACAGCAC	0.522000													31	51					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049504	11049504	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:11049504G>A	ENST00000470054.1	-	0	604									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACGTTTTAATGGAGTAACCGC	0.458000													11	98					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101009595	101009595	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:101009595A>C	ENST00000284382.4	-	11	1256	c.833T>G	c.(832-834)gTt>gGt	p.V278G	CERS3_ENST00000538112.2_Missense_Mutation_p.V278G|CERS3_ENST00000394113.1_Missense_Mutation_p.V278G|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	278	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GAAAGGAAAAACAATGAGGCG	0.493000													19	64					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449581	155449581	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155449581G>A	ENST00000368346.3	-	3	3719	c.3080C>T	c.(3079-3081)gCc>gTc	p.A1027V	ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1027					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCCAAATGTGGCAGCAAGACT	0.363000													28	26					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347140	71347140	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71347140T>C	ENST00000413702.1	+	4	967	c.679T>C	c.(679-681)Tct>Cct	p.S227P	MUC7_ENST00000304887.5_Missense_Mutation_p.S227P|MUC7_ENST00000456088.1_Missense_Mutation_p.S227P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	227	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCATCTTCCTCAGC	0.577000													20	136					0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230829	31230829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31230829G>T	ENST00000322122.3	+	4	990	c.706G>T	c.(706-708)Gag>Tag	p.E236*		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	236					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCCGCAGACTGAGTTCCTCAT	0.652000													11	22					7.03913e-09	7.06794e-09	1	1	0
MAST1	22983	broad.mit.edu	37	19	12977552	12977552	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12977552T>A	ENST00000251472.4	+	18	2154	c.2115T>A	c.(2113-2115)tcT>tcA	p.S705S		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	705	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCAGTTCTCTTCCTGCTCTC	0.607000													12	11					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24021238	24021238	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:24021238A>C	ENST00000374550.3	+	4	398	c.353A>C	c.(352-354)aAa>aCa	p.K118T	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	118				K -> E (in Ref. 1; CAA55816).	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)		CTGGGTATCAAATATGACCCA	0.423000													38	131					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30753158	30753158	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30753158T>A	ENST00000217315.5	+	18	2129	c.1789T>A	c.(1789-1791)Ttg>Atg	p.L597M	TM9SF4_ENST00000398022.2_Missense_Mutation_p.L614M			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	614						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTCATGGTCTTGTCCTTCTG	0.527000													45	148					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20852582	20852582	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:20852582T>G	ENST00000381552.1	+	2	440	c.72T>G	c.(70-72)tcT>tcG	p.S24S	SLCO1C1_ENST00000540354.1_Silent_p.S24S|SLCO1C1_ENST00000266509.2_Silent_p.S24S|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Silent_p.S24S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	24					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAAGGCCTTCTTTTAAAACAG	0.383000													11	40					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890205	139890205	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139890205A>G	ENST00000303045.6	-	3	892	c.446T>C	c.(445-447)cTc>cCc	p.L149P	COL22A1_ENST00000435777.1_Missense_Mutation_p.L149P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	149	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCGTCGGTGAGCAGGATGGC	0.726000										HNSCC(7;0.00092)			3	8					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256638	7256638	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7256638T>G	ENST00000333751.3	+	1	1431	c.377T>G	c.(376-378)cTt>cGt	p.L126R	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	126					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGAGCCAACCTTTTCTGCACC	0.602000													26	118					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074194	20074194	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:20074194T>G	ENST00000351989.3	+	2	1137	c.708T>G	c.(706-708)aaT>aaG	p.N236K	DGCR8_ENST00000407755.1_Missense_Mutation_p.N236K|DGCR8_ENST00000383024.2_Missense_Mutation_p.N236K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	236	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGGCCTTGAATTTCCCCTACG	0.468000													9	173					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48528917	48528917	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:48528917C>T	ENST00000435803.1	+	48	13291	c.13267C>T	c.(13267-13269)Cct>Tct	p.P4423S	ABCA13_ENST00000544596.1_Missense_Mutation_p.P153S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4423					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCACCTACCCCCTACTGTGGA	0.343000													8	14					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78937987	78937987	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:78937987C>T	ENST00000545128.1	+	31	4579	c.4041C>T	c.(4039-4041)ttC>ttT	p.F1347F		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	761					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGAGTTCTTCCTGCACGATG	0.567000													5	13					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63329721	63329721	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:63329721C>T	ENST00000317868.4	+	11	1475	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	ATG4C_ENST00000371120.3_Missense_Mutation_p.S423F	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	423					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AATGGTCATTCCAGAGACTAT	0.313000													18	24					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539177	48539177	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:48539177C>T	ENST00000396577.3	+	12	1739	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	SLC12A1_ENST00000558405.1_Silent_p.A508A|SLC12A1_ENST00000380993.3_Silent_p.A508A	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	508					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCTCCTCCGCCCTGGCCTCCC	0.507000													113	5					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158708	38158708	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38158708G>A	ENST00000308059.6	+	31	4336	c.4315G>A	c.(4315-4317)Gag>Aag	p.E1439K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1439K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1442K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1439					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGTGGAAAGGGAGATTCCAGG	0.617000													23	14					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563719	8563719	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8563719C>T	ENST00000423345.4	-	2	1493	c.973G>A	c.(973-975)Gag>Aag	p.E325K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E325K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	373	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCGCCCAGCTCGGGCTGCGGG	0.687000													3	5					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140173	57140173	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:57140173C>T	ENST00000371244.4	+	2	280	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	72	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AAAACTCTTTCGTCATCCTCA	0.269000													24	48					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263867	48263867	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48263867T>C	ENST00000225964.5	-	49	3934	c.3814_splice	c.e49-1	p.G1272_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1272	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCCAGTACTCTCCTGTGGTAG	0.577000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						14	53					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908441	2908441	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:2908441A>T	ENST00000397461.1	+	7	844	c.460A>T	c.(460-462)Agt>Tgt	p.S154C	CNTN4_ENST00000427331.1_Missense_Mutation_p.S154C|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.S154C	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	154	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCAGAGCTGAGTTATGCCTG	0.353000													16	49					0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129299362	129299362	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:129299362G>A	ENST00000266771.5	-	2	839	c.800C>T	c.(799-801)tCc>tTc	p.S267F	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	267					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GGAACAGCAGGAATACGTCAG	0.483000													39	2					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53005132	53005132	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53005132G>A	ENST00000421239.2	+	4	278	c.34G>A	c.(34-36)Gga>Aga	p.G12R		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GAAGAGGAAAGGAAAGGAGCC	0.393000													26	148					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346524	89346524	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:89346524G>A	ENST00000301030.4	-	9	6886	c.6426C>T	c.(6424-6426)ccC>ccT	p.P2142P	ANKRD11_ENST00000378330.2_Silent_p.P2142P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2142	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAGTCTGCAGGGGAAGCTCCG	0.662000													8	13					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641082	121641082	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121641082G>A	ENST00000489711.1	+	8	1101	c.713G>A	c.(712-714)gGa>gAa	p.G238E	SLC15A2_ENST00000295605.2_Missense_Mutation_p.G207E	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	238					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTTGCAATGGGAAGCAAAATA	0.363000													73	2					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120436814	120436814	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:120436814A>G	ENST00000369400.1	-	1	2304	c.2146T>C	c.(2146-2148)Tta>Cta	p.L716L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	716					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTGGGTTTTAAGTGGTTTCCT	0.358000													14	58					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4725096	4725096	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4725096T>G	ENST00000263088.6	+	24	2602	c.2471T>G	c.(2470-2472)cTt>cGt	p.L824R	PLD2_ENST00000572940.1_Missense_Mutation_p.L813R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	824					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGTGTGATTCTTGGAGCAAAT	0.478000													9	138					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255103	9255103	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9255103A>T	ENST00000383440.2	+	8	2026	c.1769A>T	c.(1768-1770)cAc>cTc	p.H590L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.H590L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.H613L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	613						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAGATTTCCACTTAGAATTT	0.308000													39	17					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282546	28282546	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:28282546C>T	ENST00000373894.3	+	7	1149	c.958C>T	c.(958-960)Cca>Tca	p.P320S	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.P320S|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.P272S|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	320					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGCCAACAATCCAGCCATCCG	0.567000													15	56					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56757164	56757164	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:56757164G>A	ENST00000267460.4	+	5	972	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	229					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GCCCAGCAACGAGGAAAGCTG	0.557000													39	45					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183911237	183911237	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183911237C>T	ENST00000429586.2	+	20	2153	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.F650F	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	656	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAACAATTTCAGGGTGAGTG	0.582000													39	277					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588242	118588242	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:118588242G>A	ENST00000360388.4	+	4	763	c.562G>A	c.(562-564)Ggc>Agc	p.G188S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	188					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCATTTCATCGGCATCGTTGT	0.532000													154	12					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64686209	64686209	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:64686209A>C	ENST00000261884.3	+	2	226	c.166A>C	c.(166-168)Aat>Cat	p.N56H	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	56					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CCTCCAGGGAAATGAAGGCAA	0.383000													5	20					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93624867	93624867	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:93624867A>C	ENST00000394236.3	-	5	783	c.467T>G	c.(466-468)tTt>tGt	p.F156C	PROS1_ENST00000407433.1_Missense_Mutation_p.F25C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	156					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATACGTACCAAATTCACACTT	0.393000													36	65					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011122	108011122	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:108011122C>T	ENST00000280758.5	+	9	2668	c.2140C>T	c.(2140-2142)Ccc>Tcc	p.P714S	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.P251S|BTBD11_ENST00000490090.2_Missense_Mutation_p.P714S|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	714						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGTGCCGATCCCCTGATAGG	0.483000													55	9					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47376853	47376853	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47376853C>T	ENST00000378538.3	-	5	960	c.738G>A	c.(736-738)aaG>aaA	p.K246K	SPI1_ENST00000227163.4_Silent_p.K247K|SPI1_ENST00000533030.1_3'UTR	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	246					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		AGGTGAGCTTCTTCTTCACCT	0.697000													13	8					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820784	10820784	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:10820784A>T	ENST00000526148.1	-	20	3022	c.2512T>A	c.(2512-2514)Tgc>Agc	p.C838S	EIF4G2_ENST00000396525.2_Missense_Mutation_p.C800S|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.C838S|EIF4G2_ENST00000339995.5_Missense_Mutation_p.C838S	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	838	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTGTTATAGCAGTGCACCTGG	0.403000													23	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481673	179481673	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179481673C>T	ENST00000589042.1	-	256	48167	c.47943G>A	c.(47941-47943)acG>acA	p.T15981T	TTN_ENST00000342175.6_Silent_p.T7108T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T6916T|TTN_ENST00000359218.5_Silent_p.T7041T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.T14340T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.T13413T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14340	Fibronectin type-III 16.						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)			GAACCAGGATCGTGATAGGAT	0.413000													29	76					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605903	5605903	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:5605903C>T	ENST00000215473.6	+	6	3943	c.3943C>T	c.(3943-3945)Cct>Tct	p.P1315S				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1315					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TAAAGTCATTCCTTTGACAAC	0.438000													100	6					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341300	240341300	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240341300G>A	ENST00000319653.9	+	3	2092	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	621					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R764L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTCCTAGGCGAGTTCCATCC	0.448000													23	35					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127604	170127604	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170127604G>A	ENST00000263816.3	-	16	2415	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	710					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)	AAAAAATGAGGAAATTCTGAA	0.443000													9	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061851	9061851	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9061851G>A	ENST00000397910.4	-	3	25798	c.25595C>T	c.(25594-25596)tCa>tTa	p.S8532L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8534	Ser-rich.|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						CTCTGAGTGTGAAAATCCTGG	0.527000													39	32					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119229968	119229968	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:119229968C>T	ENST00000260187.2	-	5	1328	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	USP2_ENST00000455332.2_Missense_Mutation_p.R102K|USP2_ENST00000525735.1_Missense_Mutation_p.R136K	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	345					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CGGTGCGTATCTCTGGATCTG	0.493000													14	2					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267765	7267765	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7267765G>A	ENST00000341500.5	-	2	282	c.243C>T	c.(241-243)ctC>ctT	p.L81L	INSR_ENST00000302850.5_Silent_p.L81L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	81					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATCATGATGAGTTTGGGGA	0.512000													24	17					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154291320	154291320	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:154291320T>A	ENST00000285873.7	-	15	2209	c.2134A>T	c.(2134-2136)Act>Tct	p.T712S		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	712					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCATGGAAGTGAGCCACTTG	0.468000													14	16					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127724863	127724863	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:127724863T>G	ENST00000368679.4	-	21	2699	c.2390A>C	c.(2389-2391)aAt>aCt	p.N797T		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	797					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GATGTCAACATTCTGACACTG	0.507000													9	54					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162873617	162873617	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:162873617C>T	ENST00000360534.3	-	17	2029		c.e17+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TGAGAAAATACCTTTATCATT	0.353000													7	4					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754635	94754635	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94754635T>A	ENST00000554723.1	-	3	1518	c.1100A>T	c.(1099-1101)aAc>aTc	p.N367I	SERPINA10_ENST00000261994.4_Missense_Mutation_p.N327I|SERPINA10_ENST00000554173.1_Missense_Mutation_p.N327I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.N327I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	327					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTTCATGTTTCTGAGCCA	0.483000													20	67					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46316814	46316814	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:46316814T>G	ENST00000465950.1	-	3	4294	c.3085A>C	c.(3085-3087)Agt>Cgt	p.S1029R	SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000369367.3_Missense_Mutation_p.S1344R|SCAF11_ENST00000549162.1_Missense_Mutation_p.S1152R|SCAF11_ENST00000419565.2_Missense_Mutation_p.S1344R			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1344					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCTGTGACTTGATGACGAA	0.473000													32	378					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959621	102959621	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102959621G>A	ENST00000311734.2	+	7	1147	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	IL1RL1_ENST00000233954.1_Missense_Mutation_p.E270K|IL1RL1_ENST00000404917.2_Missense_Mutation_p.E153K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.E256K			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	270	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCAACAAGAGGAAGGGCAAAA	0.418000													27	67					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143029932	143029932	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143029932T>G	ENST00000343257.2	+	12	1454	c.1367T>G	c.(1366-1368)gTt>gGt	p.V456G		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	456					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGGTCAACGTTGTCATCATC	0.488000													47	93					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206243250	206243250	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206243250T>C	ENST00000331555.5	-	3	650	c.11_splice	c.e3-1	p.E4_splice		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	4						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTCCATGACTCTGTTGGGAA	0.532000													19	50					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16634034	16634034	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16634034A>G	ENST00000546361.2	-	11	1960	c.1809T>C	c.(1807-1809)ccT>ccC	p.P603P	CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.P614P	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	603	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTCCAGCCCAAGGCGGGTGCT	0.662000													32	114					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954600	70954600	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70954600T>G	ENST00000393567.2	-	46	7829	c.7679A>C	c.(7678-7680)aAg>aCg	p.K2560T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2560										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				Gtccttctccttcttcccttc	0.622000													8	10					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632498	102632498	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102632498G>A	ENST00000332549.3	+	4	727	c.498G>A	c.(496-498)aaG>aaA	p.K166K	IL1R2_ENST00000441002.1_Silent_p.K166K|IL1R2_ENST00000393414.2_Silent_p.K166K	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	166	Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTGACGTGAAGATTCAATGGT	0.368000													6	13					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56533809	56533809	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:56533809G>A	ENST00000245157.5	-	12	1828	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y	BBS2_ENST00000568104.1_Missense_Mutation_p.H470Y	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	470					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCAAATACATGAAACTGGGTG	0.428000									Bardet-Biedl syndrome				51	3					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452456	26452456	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26452456T>C	ENST00000244519.2	+	11	1815	c.1572T>C	c.(1570-1572)ccT>ccC	p.P524P	BTN3A3_ENST00000361232.3_Silent_p.P475P|BTN3A3_ENST00000339789.4_Silent_p.P482P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	524						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CCCCCGATCCTGACCTAGTGC	0.512000													19	59					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18308239	18308239	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18308239G>A	ENST00000396253.3	-	18	2856	c.2394C>T	c.(2392-2394)tcC>tcT	p.S798S	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Silent_p.S798S|HPS5_ENST00000349215.3_Silent_p.S912S|HPS5_ENST00000537258.1_Silent_p.S19S	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	912						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTGCAGAAGGGACTCAAGAA	0.443000									Hermansky-Pudlak syndrome				6	33					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947298	45947298	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45947298C>T	ENST00000323084.4	-	7	1091	c.1026G>A	c.(1024-1026)gtG>gtA	p.V342V	TSPEAR_ENST00000397916.1_Silent_p.V274V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	342					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGGCTGTGGCCACAAAGAGCC	0.552000													49	54					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34099216	34099216	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34099216A>C	ENST00000397527.1	+	35	7810	c.7090A>C	c.(7090-7092)Act>Cct	p.T2364P	CEP250_ENST00000342580.4_Missense_Mutation_p.T2308P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2364					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCTCAGCTGACTTTGGAGCG	0.567000													12	58					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89975415	89975415	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89975415G>A	ENST00000405460.2	+	26	5589	c.5493G>A	c.(5491-5493)atG>atA	p.M1831I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1831					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)		ATGGGGACATGGAATTCTTCC	0.388000													12	11					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23222931	23222931	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23222931G>A	ENST00000400191.3	+	9	1743	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S570S|EPHB2_ENST00000374632.3_Silent_p.S576S|EPHB2_ENST00000374630.3_Silent_p.S575S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	575					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGCTGACTCGGAGTACACGG	0.597000													13	47					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39505984	39505984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39505984C>T	ENST00000265707.5	+	12	1213	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	ADAM18_ENST00000379866.1_Nonsense_Mutation_p.Q366*|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	390	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACATCAAAATCAACCAGTGTG	0.333000													17	21					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676056	73676056	+	Silent	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73676056C>A	ENST00000339764.1	+	4	1219	c.468C>A	c.(466-468)acC>acA	p.T156T	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000540886.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	156					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TTGGCTGCACCAAAAAAATTA	0.567000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	38					3.1745e-13	3.19554e-13	1	1	0
B4GALNT4	338707	broad.mit.edu	37	11	373082	373082	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:373082C>T	ENST00000329962.6	+	5	501	c.501C>T	c.(499-501)ctC>ctT	p.L167L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	167						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTATGGACTCCGTATTTTTG	0.652000													36	47					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008986	88008986	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:88008986G>A	ENST00000276127.4	+	3	830	c.571G>A	c.(571-573)Gag>Aag	p.E191K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E191K	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	191						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CACCCATCACGAGAGAGCCAT	0.423000													27	0					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74439604	74439604	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74439604A>T	ENST00000334696.6	-	13	1329	c.1010T>A	c.(1009-1011)gTt>gAt	p.V337D	ENTPD5_ENST00000557325.1_Missense_Mutation_p.V337D	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	337					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTCTGTGTCAACAGCTCGGTC	0.517000													42	170					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746758	51746758	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:51746758A>C	ENST00000395052.3	+	3	954	c.720A>C	c.(718-720)aaA>aaC	p.K240N	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.K240N	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	240					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCTCGGAGAAAGTGGGCCGTG	0.642000													15	32					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8755208	8755208	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:8755208C>T	ENST00000378641.3	+	27	3428	c.2953C>T	c.(2953-2955)Cat>Tat	p.H985Y	PLCB1_ENST00000338037.6_Missense_Mutation_p.H985Y|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.H985Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	985					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGCCCTGATCATGGTTCATC	0.463000													56	71					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154866399	154866399	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:154866399A>C	ENST00000460393.1	+	16	1678	c.1558A>C	c.(1558-1560)Agt>Cgt	p.S520R	MME_ENST00000493237.1_Missense_Mutation_p.S520R|MME_ENST00000462745.1_Missense_Mutation_p.S520R|MME_ENST00000360490.2_Missense_Mutation_p.S520R|MME_ENST00000492661.1_Missense_Mutation_p.S520R	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	520					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATTCAGCCAAAGTAAACAACT	0.343000													8	67					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67817706	67817706	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67817706A>G	ENST00000265686.3	+	18	2329	c.2221A>G	c.(2221-2223)Agc>Ggc	p.S741G	TCIRG1_ENST00000532635.1_Missense_Mutation_p.S525G	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	741					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GTGGGCCCTGAGCCTGGCCCA	0.682000													21	127					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612884	31612884	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31612884T>C	ENST00000404765.2	-	10	1497	c.1208A>G	c.(1207-1209)cAg>cGg	p.Q403R	BAG6_ENST00000375976.4_Missense_Mutation_p.Q403R|BAG6_ENST00000362049.6_Missense_Mutation_p.Q403R|BAG6_ENST00000375964.6_Missense_Mutation_p.Q409R|BAG6_ENST00000211379.5_Missense_Mutation_p.Q403R|BAG6_ENST00000439687.2_Missense_Mutation_p.Q403R			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	409	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGATGAGGCCTGCCCAGGACC	0.642000													5	141					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183793	89183793	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:89183793T>C	ENST00000295908.6	-	7	1462	c.1073A>G	c.(1072-1074)aAc>aGc	p.N358S		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	358					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GAATGAGAAGTTGATTTCAGA	0.458000													8	30					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33004900	33004900	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:33004900A>G	ENST00000280979.4	+	3	635	c.465A>G	c.(463-465)cgA>cgG	p.R155R	AKAP6_ENST00000557272.1_Silent_p.R155R|AKAP6_ENST00000557354.1_Silent_p.R155R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	155					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACCAGCTTCGAGTCTCAGTGC	0.537000													8	52					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33255176	33255176	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33255176T>G	ENST00000374617.4	-	8	1191	c.835A>C	c.(835-837)Aca>Cca	p.T279P		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	279										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCAAGCCGTGTTACTCGGTCA	0.567000													3	51					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907685	103907685	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:103907685C>T	ENST00000302259.3	+	1	378	c.135C>T	c.(133-135)atC>atT	p.I45I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	45	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCGAAGAGATCCAGATCATCC	0.562000													33	55					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39140094	39140094	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39140094T>G	ENST00000377755.4	-	1	466	c.432A>C	c.(430-432)gaA>gaC	p.E144D	KRT40_ENST00000398486.2_Missense_Mutation_p.E144D			Q6A162	K1C40_HUMAN	keratin 40	144	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGGAGATCTTCAATGGTGT	0.463000													22	50					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42769021	42769021	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:42769021T>G	ENST00000379274.2	+	17	2057	c.1627_splice	c.e17-1	p.V543_splice	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Splice_Site_p.V543_splice|DGKH_ENST00000540693.1_Splice_Site_p.V679_splice|DGKH_ENST00000261491.4_Splice_Site_p.V679_splice|DGKH_ENST00000337343.4_Splice_Site_p.V679_splice|DGKH_ENST00000538674.1_Splice_Site_p.V434_splice			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	679					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTGCCAACAGTTAAAACTGCA	0.388000													6	14					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166963285	166963285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:166963285C>T	ENST00000367872.4	+	5	746	c.502C>T	c.(502-504)Cga>Tga	p.R168*	MAEL_ENST00000367870.2_Nonsense_Mutation_p.R137*|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	168					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACGAGGATTTCGATTTCATTG	0.338000													12	11					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244277	141244277	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:141244277T>C	ENST00000287008.3	-	3	1766	c.1619A>G	c.(1618-1620)gAg>gGg	p.E540G	PCDH1_ENST00000536585.1_Missense_Mutation_p.E518G|PCDH1_ENST00000456271.1_Missense_Mutation_p.E528G|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.E540G|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	540	Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTAAACCAGCTCAGCATTAGA	0.542000													18	25					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													43	47					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6025204	6025204	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:6025204C>T	ENST00000378858.4	-	4	1207	c.983G>A	c.(982-984)aGa>aAa	p.R328K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	328						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TAGGACAGTTCTCTTTGCATC	0.517000													7	13					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945904	17945904	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17945904A>C	ENST00000458235.1	-	15	2134	c.2035T>G	c.(2035-2037)Tta>Gta	p.L679V	JAK3_ENST00000527670.1_Missense_Mutation_p.L679V|JAK3_ENST00000534444.1_Missense_Mutation_p.L679V	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	679	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCCAGGCTTAACACAGCGGGG	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								13	68					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702494	30702494	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30702494C>T	ENST00000256246.2	-	1	4114	c.4040G>A	c.(4039-4041)gGa>gAa	p.G1347E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1347										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAAGATTCTCCCTCACTATC	0.408000													47	52					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28584175	28584175	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28584175C>T	ENST00000434452.1	-	13	2200	c.2046G>A	c.(2044-2046)agG>agA	p.R682R	DSC3_ENST00000360428.4_Silent_p.R682R	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	682	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTCCTGTACTCCTTGAAGTCG	0.383000													26	24					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43217120	43217120	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:43217120C>T	ENST00000255226.6	+	6	1632	c.816C>T	c.(814-816)atC>atT	p.I272I	SLC14A2_ENST00000586448.1_Silent_p.I272I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	272						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCCCAATATCACCTGGACAG	0.517000													38	6					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807885	209807885	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209807885G>A	ENST00000391911.1	-	5	860	c.471C>T	c.(469-471)ttC>ttT	p.F157F	LAMB3_ENST00000367030.3_Silent_p.F157F|LAMB3_ENST00000356082.4_Silent_p.F157F	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	157	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGACCCGAGGGAAGGTGGAGG	0.637000													32	27					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575515	71575515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:71575515C>T	ENST00000304743.2	+	34	6942	c.6496C>T	c.(6496-6498)Caa>Taa	p.Q2166*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q2094*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q2055*|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2166	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCATCCATCCAATCCCGACT	0.577000													19	56					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585231	30585231	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30585231G>C	ENST00000217299.3	+	3	1885	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	571						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTCCCAGGAGCTGCTGGA	0.592000													32	24					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264721	75264721	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75264721A>T	ENST00000325680.7	+	5	2845	c.2721A>T	c.(2719-2721)caA>caT	p.Q907H	YLPM1_ENST00000238571.3_Missense_Mutation_p.Q712H|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	712	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACTCTCAACAAGAGCCACCTA	0.448000													3	26					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046127	213046127	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:213046127A>C	ENST00000366971.4	+	3	1189	c.991A>C	c.(991-993)Aac>Cac	p.N331H		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	331					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CCTGTTTAAAAACATTCCTTT	0.388000													11	30					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869979	52869979	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52869979C>T	ENST00000601151.1	+	5	1671	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF610_ENST00000327920.8_Missense_Mutation_p.H450Y|ZNF610_ENST00000403906.3_Missense_Mutation_p.H450Y|ZNF610_ENST00000321287.8_Missense_Mutation_p.H450Y	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCGGAAAATTCATGCTGGAGA	0.418000													33	67					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799668	5799668	+	Missense_Mutation	SNP	G	G	A	rs139313367		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5799668G>A	ENST00000317093.2	-	1	229	c.197C>T	c.(196-198)cCg>cTg	p.P66L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAATACATCGGATGATGTAA	0.453000													45	3					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13035542	13035542	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13035542T>G	ENST00000588025.1	-	11	1366	c.1226A>C	c.(1225-1227)gAg>gCg	p.E409A	FARSA_ENST00000423140.2_Missense_Mutation_p.E338A|FARSA_ENST00000314606.4_Missense_Mutation_p.E369A			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	369					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CTGGTGGAACTCAGCCAGGTG	0.612000													23	88					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31314355	31314355	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31314355T>G	ENST00000269197.5	+	10	1058	c.1058T>G	c.(1057-1059)tTc>tGc	p.F353C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.F353S(1)|p.F60S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAGAAAAATTCTTTGAGAGG	0.333000													3	12					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183033	39183033	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39183033C>T	ENST00000361883.5	-	1	421	c.375G>A	c.(373-375)gtG>gtA	p.V125V		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	125	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGCCCTCCACACGACTGT	0.652000													26	17					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841902	13841902	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13841902C>T	ENST00000265104.4	-	33	5487	c.5383G>A	c.(5383-5385)Gaa>Aaa	p.E1795K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1795	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTGAGATTCTTCCAAAAGA	0.423000									Kartagener syndrome				61	50					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187171539	187171539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187171539G>A	ENST00000264690.6	+	7	928	c.741G>A	c.(739-741)tgG>tgA	p.W247*	KLKB1_ENST00000513864.1_Nonsense_Mutation_p.W247*	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	247	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.W247*(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAAATGTATGGAAAATCGAGT	0.453000													25	58					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057222	120057222	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:120057222C>T	ENST00000235547.6	+	4	1221	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	HSD3B1_ENST00000528909.1_Missense_Mutation_p.S359F|HSD3B1_ENST00000369413.3_Missense_Mutation_p.S359F	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	359					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGGGTTGGTTCCCTTGTGGAC	0.493000													18	25					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101549061	101549061	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:101549061C>T	ENST00000284395.5	+	8	1173	c.773C>T	c.(772-774)tCc>tTc	p.S258F	LRRK1_ENST00000388948.3_Missense_Mutation_p.S261F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	261					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGAAATGGTCCCATCTCAGA	0.552000											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	11					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238585	57238585	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57238585T>G	ENST00000537866.1	+	2	888	c.15T>G	c.(13-15)ggT>ggG	p.G5G	RSPRY1_ENST00000394420.4_Silent_p.G5G			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	5						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCGTCTTTGGTTGGGCCGTGT	0.458000													56	88					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078383	6078383	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6078383G>A	ENST00000261405.5	-	45	7977	c.7723C>T	c.(7723-7725)Cgc>Tgc	p.R2575C		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2575					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTACCACAGCGACAGCTTGGG	0.567000													7	12					0	0	1	0	0
TRMT10B	158234	broad.mit.edu	37	9	37762051	37762051	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37762051C>T	ENST00000297994.3	+	2	188	c.123C>T	c.(121-123)atC>atT	p.I41I	TRMT10B_ENST00000377754.2_5'UTR|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Silent_p.I41I|TRMT10B_ENST00000537911.1_Silent_p.I41I	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		TTCTGCAGATCGATGCGGAAG	0.567000													10	11					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19407922	19407922	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19407922T>C	ENST00000247001.5	-	8	1466	c.1119A>G	c.(1117-1119)ccA>ccG	p.P373P		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	373	Pro-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTGCGGAGGCTGGCTTCCCGG	0.672000													6	68					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16923627	16923627	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16923627G>A	ENST00000552788.1	+	17	4359	c.4359G>A	c.(4357-4359)aaG>aaA	p.K1453K	NWD1_ENST00000549814.1_Silent_p.K1411K|NWD1_ENST00000524140.2_Intron|NWD1_ENST00000523826.1_Silent_p.K1247K|NWD1_ENST00000379808.3_Intron|NWD1_ENST00000339803.6_Silent_p.K1318K			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1453							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGGCTTAAAGGATCGCTCTA	0.458000													62	99					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378660	28378660	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28378660C>T	ENST00000337532.5	-	13	1339	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MPP7_ENST00000375719.3_Missense_Mutation_p.E355K|MPP7_ENST00000445954.2_Missense_Mutation_p.E230K|MPP7_ENST00000375732.1_Missense_Mutation_p.E355K|MPP7_ENST00000540098.1_Missense_Mutation_p.E355K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	355					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCACTTCTTCGTATGTGGGT	0.378000													78	59					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923417	226923417	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226923417G>A	ENST00000429204.1	-	2	2070	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	ITPKB_ENST00000272117.3_Silent_p.A581A|ITPKB_ENST00000366784.1_Silent_p.A581A	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	581							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCTCCTCCAAGGCCCCATCCT	0.602000													19	27					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343846	248343846	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248343846C>T	ENST00000359682.2	+	1	559	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			CCTACTAATCCTCTCATGCAA	0.408000													124	136					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96058137	96058137	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:96058137T>C	ENST00000260766.3	+	24	5803	c.5167_splice	c.e24-1	p.S1723_splice	PLCE1_ENST00000371375.1_Splice_Site_p.S1415_splice|PLCE1_ENST00000371385.3_Splice_Site_p.S1415_splice|PLCE1_ENST00000371380.2_Splice_Site_p.S1723_splice	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1723	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGGGTTTAGGTTCCTGTGAAG	0.413000													44	4					0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21007080	21007080	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21007080T>G	ENST00000495827.1	-	7	700	c.655A>C	c.(655-657)Aga>Cga	p.R219R	PTPLAD2_ENST00000513293.2_Silent_p.R219R	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	219					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		AGGATGTCTCTTCTTTCTGAG	0.363000													10	46					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742683	102742683	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102742683C>T	ENST00000532855.1	-	0	447							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATTATTGATTCTTTATCAGCA	0.373000													15	0					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175923636	175923636	+	Missense_Mutation	SNP	A	A	G	rs138735701		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:175923636A>G	ENST00000261942.6	+	8	864	c.811A>G	c.(811-813)Act>Gct	p.T271A		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	271					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGCTAACCAGACTTACCTGGT	0.493000													19	21					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89940642	89940642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89940642C>T	ENST00000405460.2	+	15	2950	c.2854C>T	c.(2854-2856)Cag>Tag	p.Q952*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	952	Calx-beta 7.				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)		CTTTGGAGATCAGGAATTTTC	0.353000													20	24					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535217	71535217	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:71535217C>T	ENST00000355327.3	+	5	828	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	THSD4_ENST00000261862.6_Missense_Mutation_p.R232C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	232	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTGGCCCTCGCTCTGGACT	0.577000													15	22					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81851606	81851606	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:81851606C>T	ENST00000550584.2	-	4	638	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PPFIA2_ENST00000407050.4_Missense_Mutation_p.E41K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E97K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E115K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E41K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E97K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E115K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E115K|PPFIA2_ENST00000545296.2_5'UTR|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000550359.2_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	41										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGAAGTTGTTCCCTGCAGGCA	0.303000													8	2					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483976	43483976	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:43483976C>T	ENST00000395891.1	+	11	1810	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	HECW1_ENST00000453890.1_Missense_Mutation_p.P402L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCAGTGTCCCCGATGGTCCA	0.592000													20	34					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158863	58158863	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:58158863A>T	ENST00000228606.4	-	4	930	c.721T>A	c.(721-723)Tgg>Agg	p.W241R	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	241					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TGGCGCAGCCAGTGGGGCATC	0.642000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	48					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899151	133899151	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133899151G>A	ENST00000220616.4	+	9	1574	c.1534G>A	c.(1534-1536)Gga>Aga	p.G512R	TG_ENST00000377869.1_Missense_Mutation_p.G512R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	512					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTTGAATGGAGGGAGACA	0.448000													34	30					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243652	41243652	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41243652T>A	ENST00000309486.4	-	9	4035	c.3008A>T	c.(3007-3009)cAg>cTg	p.Q1003L	BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.Q1299L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.Q1299L|BRCA1_ENST00000354071.3_Missense_Mutation_p.Q1299L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.Q1252L|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.Q1299L	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1299					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCACTGCACTGTGAAGAAAA	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			9	102					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25657022	25657022	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:25657022A>C	ENST00000376436.1	-	4	1441	c.902T>G	c.(901-903)tTt>tGt	p.F301C	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.F301C|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.F269C					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTATCGTTAAACCTTCGCCC	0.483000													5	155					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415349	61415349	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:61415349A>C	ENST00000398571.2	-	80	10605	c.10529T>G	c.(10528-10530)cTc>cGc	p.L3510R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3510					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)			ATGACTAAAGAGTCCTCTGGA	0.463000													14	47					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878057	2878057	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2878057G>A	ENST00000586426.1	+	4	1185	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	ZNF556_ENST00000307635.2_Silent_p.E367E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACTAGAGAGAAAGTCTATA	0.478000													20	20					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427857	3427857	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3427857C>T	ENST00000529482.1	+	0	974																											GGAGCAGAACCCGAATCTTTC	0.592000													15	28					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34026782	34026782	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34026782G>A	ENST00000374181.3	-	4	1165	c.996C>T	c.(994-996)gtC>gtT	p.V332V	GRM4_ENST00000455714.2_Silent_p.V192V|GRM4_ENST00000538487.1_Silent_p.V332V|GRM4_ENST00000545715.1_Silent_p.V24V|GRM4_ENST00000535756.1_Silent_p.V199V|GRM4_ENST00000374177.3_Silent_p.V263V|GRM4_ENST00000544773.1_Silent_p.V163V	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	332					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGAGGATCGTGACAGCACCCT	0.627000													14	13					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7556717	7556717	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7556717T>G	ENST00000250111.4	+	2	545	c.138T>G	c.(136-138)gtT>gtG	p.V46V		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	46					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCTACCTCGTTTTTTATGGGT	0.557000													44	123					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526445	23526445	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:23526445C>T	ENST00000296682.3	+	11	1430	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	416					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGAACTTCCCAGGACCAT	0.488000										HNSCC(3;0.000094)			100	35					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2550412C>T	ENST00000567020.1	+	6	1568	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	TBC1D24_ENST00000293970.5_Silent_p.F482F|TBC1D24_ENST00000434757.2_Silent_p.F482F|RP11-20I23.1_ENST00000564543.1_Intron	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	482	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000													3	6					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258184	56258184	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56258184G>A	ENST00000327216.2	-	1	687	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F221F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAATAGCAGGGAAAATGTAAA	0.408000													29	41					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956006	48956006	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48956006C>T	ENST00000253237.5	+	7	1298	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	355						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACGTGGCCCCCGTGACCTCCG	0.652000													40	58					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132546749	132546749	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:132546749C>T	ENST00000333577.4	+	47	8196	c.8087C>T	c.(8086-8088)tCc>tTc	p.S2696F	EP400_ENST00000330386.6_Missense_Mutation_p.S2579F|EP400_ENST00000389562.2_Missense_Mutation_p.S2659F|EP400_ENST00000332482.4_Missense_Mutation_p.S2623F|EP400_ENST00000389561.2_Missense_Mutation_p.S2660F			Q96L91	EP400_HUMAN	E1A binding protein p400	2696	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACCTGGTGTCCATGGCAACG	0.677000													28	4					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746174	94746174	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:94746174G>A	ENST00000399300.2	-	3	2678	c.2465C>T	c.(2464-2466)cCt>cTt	p.P822L	RBM12B_ENST00000517700.1_Missense_Mutation_p.P702L|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	822							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCATCAGGAGGGTGCCTAAA	0.572000													39	47					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48704769	48704769	+	Silent	SNP	G	G	A	rs150065311		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:48704769G>A	ENST00000316623.5	-	65	8678	c.8223C>T	c.(8221-8223)atC>atT	p.I2741I	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2741					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACCCACCTCGATATTGGAGG	0.493000													58	7					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32712786	32712786	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32712786T>G	ENST00000421745.2	+	41	8020	c.7886T>G	c.(7885-7887)cTt>cGt	p.L2629R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2629					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACCAGCCAGCTTATTATACAG	0.358000													9	74					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78399581	78399581	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:78399581C>T	ENST00000238561.5	+	11	1518	c.1419C>T	c.(1417-1419)acC>acT	p.T473T	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.T405T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	480						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGAAGAATACCTGTTCATTCT	0.423000													18	26					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072071	197072071	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197072071A>G	ENST00000367409.4	-	18	6566	c.6310T>C	c.(6310-6312)Tat>Cat	p.Y2104H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2104	IQ 16.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATACCTCTATAAACAGATTGG	0.318000													45	45					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918003	57918003	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:57918003G>A	ENST00000574161.1	+	5	557	c.438G>A	c.(436-438)ctG>ctA	p.L146L	GCOM1_ENST00000396180.1_Silent_p.L115L|GCOM1_ENST00000572390.1_Silent_p.L146L|GCOM1_ENST00000380561.2_Silent_p.L115L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Silent_p.L146L|GCOM1_ENST00000380568.3_Silent_p.L146L|GCOM1_ENST00000587652.1_Silent_p.L146L|MYZAP_ENST00000380565.4_Silent_p.L146L|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000267853.5_Silent_p.L146L	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		146				Missing (in Ref. 2; ADA68358).	intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGGAGTATCTGGAGAATCACA	0.488000													31	1					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419243	123419243	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123419243T>G	ENST00000360772.3	-	19	3450	c.3072A>C	c.(3070-3072)aaA>aaC	p.K1024N	MYLK_ENST00000360304.3_Missense_Mutation_p.K1024N|MYLK_ENST00000359169.1_Missense_Mutation_p.K1024N|MYLK_ENST00000475616.1_Missense_Mutation_p.K1024N|MYLK_ENST00000346322.5_Missense_Mutation_p.K955N			Q15746	MYLK_HUMAN	myosin light chain kinase	1024	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCCCACGGGTTTCAAGGGCC	0.602000													11	241					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399730	124399730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:124399730C>T	ENST00000338354.3	+	52	6836	c.6730C>T	c.(6730-6732)Cag>Tag	p.Q2244*	DMBT1_ENST00000368955.3_Nonsense_Mutation_p.Q2234*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.Q2244*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.Q964*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.Q1616*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.Q1616*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.Q2234*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2244	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TAACACCATCCAGGTCGAGGA	0.468000													65	10					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131729899	131729899	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131729899A>C	ENST00000245407.3	+	10	1830	c.1609A>C	c.(1609-1611)Agt>Cgt	p.S537R	SLC22A5_ENST00000435065.2_Missense_Mutation_p.S561R	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	537					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AAAAACTCCAAGTCACACAAG	0.378000													11	31					0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2732843	2732843	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2732843T>G	ENST00000269740.4	-	3	1180	c.851A>C	c.(850-852)aAg>aCg	p.K284T	SLC39A3_ENST00000545664.1_Missense_Mutation_p.K284T|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	284						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCTCCTTGGCCAGGAT	0.667000													20	91					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322007	79322007	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:79322007A>G	ENST00000428286.1	-	8	5306	c.4106T>C	c.(4105-4107)gTc>gCc	p.V1369A	PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1728A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1728					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCAGCTGTGACCAAGAACTT	0.423000													10	42					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27203053	27203053	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:27203053G>A	ENST00000380036.4	+	13	2587	c.2145G>A	c.(2143-2145)gaG>gaA	p.E715E	TEK_ENST00000519097.1_Silent_p.E568E|TEK_ENST00000406359.4_Silent_p.E672E	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	715	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTTTTGCAGAGAACAACATAG	0.458000													8	31					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528704	65528704	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:65528704G>A	ENST00000310193.3	-	3	567	c.394C>T	c.(394-396)Cat>Tat	p.H132Y		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	132					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTCATGTCATGATTTTTTTGC	0.318000													15	24					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238674	69238674	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:69238674A>G	ENST00000310673.3	+	2	955	c.801A>G	c.(799-801)ctA>ctG	p.L267L	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	267	Poly-Ala.				multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GCCTTGCTCTAGCAGCAGCAG	0.383000													5	40					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423254	107423254	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:107423254G>A	ENST00000409382.3	-	6	2080	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ST6GAL2_ENST00000361686.4_Silent_p.L490L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	490					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCTGCACCAGGAGCTTCTCAT	0.632000													14	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091810	9091810	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9091810A>C	ENST00000397910.4	-	1	208	c.5T>G	c.(4-6)cTg>cGg	p.L2R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2					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						TGAGGGTTTCAGCATGGACAG	0.537000													6	24					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456053	5456053	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5456053T>G	ENST00000222033.4	+	1	628	c.551T>G	c.(550-552)aTc>aGc	p.I184S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	184	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGGCGGCCATCGTGCACAAC	0.657000													6	97					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101680202	101680202	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101680202T>A	ENST00000261637.4	+	5	604	c.430T>A	c.(430-432)Ttg>Atg	p.L144M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	144					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGACACAGAGTTGTTAGAATG	0.438000													33	49					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437535	125437535	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125437535C>T	ENST00000304820.2	+	1	221	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GATGGGAAATCTGCTCATCAT	0.428000													24	86					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438453	25438453	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25438453G>A	ENST00000424208.1	+	0	1312				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CGCCGGGAAGGACGTGCCCTG	0.542000													145	13					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52317573	52317573	+	Missense_Mutation	SNP	C	C	T	rs139197513		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:52317573C>T	ENST00000371068.5	+	4	764	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	EFHC1_ENST00000433625.2_Missense_Mutation_p.R130C|EFHC1_ENST00000538167.1_Missense_Mutation_p.R202C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	221			R -> H (in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E).			axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGCCTCTTCGTAAGTATGT	0.383000													30	102					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661573	36661573	+	Missense_Mutation	SNP	G	G	A	rs146925617	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36661573G>A	ENST00000319136.4	+	7	1006	c.739G>A	c.(739-741)Gga>Aga	p.G247R	APOL1_ENST00000347595.7_Missense_Mutation_p.G110R|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397279.4_Missense_Mutation_p.G231R|APOL1_ENST00000426053.1_Missense_Mutation_p.G213R|APOL1_ENST00000422706.1_Missense_Mutation_p.G231R|APOL1_ENST00000397278.3_Missense_Mutation_p.G231R	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	231					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CATGGACTACGGAAAGAAGTG	0.517000													35	39					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57575930	57575930	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57575930T>C	ENST00000524630.1	+	13	2655	c.2142T>C	c.(2140-2142)acT>acC	p.T714T	CTNND1_ENST00000529526.1_Silent_p.T660T|CTNND1_ENST00000426142.2_Silent_p.T613T|CTNND1_ENST00000529919.1_Silent_p.T720T|CTNND1_ENST00000399039.4_Silent_p.T720T|CTNND1_ENST00000361796.4_Silent_p.T714T|CTNND1_ENST00000526772.1_Silent_p.T391T|CTNND1_ENST00000428599.2_Silent_p.T714T|CTNND1_ENST00000531014.1_Silent_p.T391T|CTNND1_ENST00000528621.1_Silent_p.T660T|CTNND1_ENST00000525902.1_Silent_p.T397T|CTNND1_ENST00000527467.1_Silent_p.T397T|CTNND1_ENST00000529986.1_Silent_p.T613T|CTNND1_ENST00000528232.1_Silent_p.T619T|CTNND1_ENST00000361391.6_Silent_p.T714T|CTNND1_ENST00000530094.1_Silent_p.T613T|CTNND1_ENST00000532787.1_Silent_p.T613T|CTNND1_ENST00000415361.2_Silent_p.T619T|CTNND1_ENST00000533667.1_Silent_p.T391T|CTNND1_ENST00000360682.6_Silent_p.T720T|CTNND1_ENST00000399050.4_Silent_p.T720T|CTNND1_ENST00000530748.1_Silent_p.T666T|CTNND1_ENST00000532245.1_Silent_p.T613T|CTNND1_ENST00000529873.1_Silent_p.T660T|CTNND1_ENST00000358694.6_Silent_p.T714T|CTNND1_ENST00000532844.1_Silent_p.T666T|CTNND1_ENST00000526938.1_Silent_p.T720T|CTNND1_ENST00000532463.1_Silent_p.T613T|CTNND1_ENST00000526357.1_Silent_p.T660T|CTNND1_ENST00000534579.1_Silent_p.T660T|CTNND1_ENST00000532649.1_Silent_p.T660T|CTNND1_ENST00000361332.4_Silent_p.T714T			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	720					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACCTCCTGACTAATGAACATG	0.468000													11	88					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74413908	74413908	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:74413908G>A	ENST00000376332.3	-	9	1547	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	CHRDL2_ENST00000263671.5_Silent_p.L351L|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	351					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AAGCGACGCAGGTTGTCTGGG	0.602000											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	62					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15564465	15564465	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:15564465C>T	ENST00000281513.5	-	23	2576	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	NBAS_ENST00000441750.1_Missense_Mutation_p.E851K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	851										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						TCTATTTCCTCTGCTCTGGTC	0.483000													32	19					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84226688	84226688	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84226688G>A	ENST00000376499.3	-	13	2314	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	TLE1_ENST00000376484.1_Missense_Mutation_p.P92L|TLE1_ENST00000376472.1_Missense_Mutation_p.P92L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	417	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCTACCATGGGGGAGCGCCC	0.687000													13	7					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135545108	135545108	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:135545108C>T	ENST00000520727.1	-	13	3347	c.3048G>A	c.(3046-3048)ggG>ggA	p.G1016G	ZFAT_ENST00000429442.2_Silent_p.G1016G|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000377838.3_Silent_p.G1028G|ZFAT_ENST00000520356.1_Silent_p.G1016G|ZFAT_ENST00000523399.1_Silent_p.G966G|ZFAT_ENST00000520214.1_Silent_p.G1016G	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGCCAGCTCCCCGGTGCCCA	0.607000													13	9					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123332296	123332296	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123332296G>A	ENST00000275162.4	+	3	1891	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	CLVS2_ENST00000368438.1_Missense_Mutation_p.G40S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	186	CRAL-TRIO.				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						AGCTATTGAAGGCCTGCAGGT	0.388000													18	1					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67197710	67197710	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67197710T>G	ENST00000269081.4	-	11	2015	c.1106A>C	c.(1105-1107)aAt>aCt	p.N369T	ABCA10_ENST00000416101.2_Missense_Mutation_p.N369T|ABCA10_ENST00000432313.2_Missense_Mutation_p.N369T	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	369					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGCTCAGGATTTATTTCATT	0.358000													11	27					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348893	21348893	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:21348893A>T	ENST00000215739.8	+	15	2021	c.1662A>T	c.(1660-1662)gcA>gcT	p.A554A	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.A535A	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	554					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACAAACTGGCACTGAGCTTCC	0.642000													35	42					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52723169	52723169	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52723169A>G	ENST00000394799.2	+	6	662	c.452A>G	c.(451-453)gAg>gGg	p.E151G	GNL3_ENST00000418458.1_Missense_Mutation_p.E163G	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	163					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CAGGTAGAAGAGGCCATTGTC	0.443000													27	84					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32977637	32977637	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:32977637A>T	ENST00000399302.2	+	7	4669	c.4334A>T	c.(4333-4335)aAg>aTg	p.K1445M	QSER1_ENST00000527788.1_Missense_Mutation_p.K1206M	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1445										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGTTCTAAAAAGCCAAGAAAT	0.294000													4	65					0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6978873	6978873	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6978873A>C	ENST00000229270.4	+	5	927	c.590A>C	c.(589-591)aAg>aCg	p.K197T	TPI1_ENST00000535434.1_Missense_Mutation_p.K78T|TPI1_ENST00000488464.2_Missense_Mutation_p.K78T|TPI1_ENST00000396705.5_Missense_Mutation_p.K160T	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	160					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GACTGGAGCAAGGTCGTCCTG	0.582000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	119					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17140199	17140199	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17140199A>G	ENST00000265970.7	-	17	3027	c.3028T>C	c.(3028-3030)Tta>Cta	p.L1010L	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.L630L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1010					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.L1010L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TACCAATATAAATTGTGTGCT	0.318000													21	54					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196392207	196392207	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196392207G>A	ENST00000367433.5	-	12	1259	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	KCNT2_ENST00000367431.4_Silent_p.S386S|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Silent_p.S386S|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	386						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTCACAACGGCTACTGAGAA	0.308000													8	12					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387612	56387612	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:56387612T>G	ENST00000423270.1	-	9	2313	c.2314A>C	c.(2314-2316)Aag>Cag	p.K772Q	RFX7_ENST00000317318.6_Missense_Mutation_p.K772Q|RFX7_ENST00000559447.2_Missense_Mutation_p.K675Q|RFX7_ENST00000422057.1_Missense_Mutation_p.K675Q	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	675					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAACTGACTTTGAATCACTG	0.373000													6	17					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103474022	103474022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103474022C>T	ENST00000428762.1	-	3	594	c.435G>A	c.(433-435)tgG>tgA	p.W145*	RELN_ENST00000424685.2_Nonsense_Mutation_p.W145*|RELN_ENST00000343529.5_Nonsense_Mutation_p.W145*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	145	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGGAGCAATCCAGATGAAAC	0.488000													18	34					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021613	132021613	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:132021613C>T	ENST00000356920.5	+	15	2679	c.2585C>T	c.(2584-2586)aCt>aTt	p.T862I	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	862	Actin-like.						ATP binding										GTCACCCACACTGTGCCCATC	0.627000													53	41					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421708	50421708	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50421708A>C	ENST00000435965.1	-	6	744	c.571T>G	c.(571-573)Ttc>Gtc	p.F191V	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.F191V|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.F191V|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.F191V|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.F122V|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.F191V|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.F191V|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.F191V			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	191					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCCTCGATGAAGTCCAGCCTT	0.537000													15	238					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44438278	44438278	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44438278C>T	ENST00000291547.5	+	7	869	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P103S	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	220							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGTCGTCACTCCCCAAGGCCA	0.488000													16	22					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178054	42178054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42178054G>A	ENST00000320955.6	-	7	1626	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	467					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCAGCCTCTGGACGGCTGCC	0.667000													2	0					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413134	24413134	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:24413134C>T	ENST00000330966.7	-	15	1963	c.1801_splice	c.e15+1	p.A601_splice	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Splice_Site_p.A600_splice|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Splice_Site_p.A600_splice			Q5VTT5	MYOM3_HUMAN	myomesin 3	600										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGGAGGGTACCTGGCGGGCCC	0.642000													9	59					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242222	5242222	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:5242222G>A	ENST00000274181.7	+	17	2718	c.2580G>A	c.(2578-2580)ttG>ttA	p.L860L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	860	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCCTCGCTTGGGGACCGAGA	0.552000													5	54					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254450	18254450	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:18254450A>G	ENST00000377369.2	+	4	855	c.582A>G	c.(580-582)atA>atG	p.I194M	SLC39A12_ENST00000377374.4_Missense_Mutation_p.I194M|SLC39A12_ENST00000377371.3_Missense_Mutation_p.I194M|SLC39A12_ENST00000539911.1_Missense_Mutation_p.I60M	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	194					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATCTGGAATAGTGAGCAGTG	0.388000													7	85					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806111	26806111	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:26806111T>G	ENST00000541819.2	-	9	1318	c.1216A>C	c.(1216-1218)Aag>Cag	p.K406Q	GABRB3_ENST00000545868.1_Missense_Mutation_p.K265Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.K350Q|GABRB3_ENST00000311550.5_Missense_Mutation_p.K350Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.K279Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	350					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(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGGTCATTCTTTGCCTTGGCT	0.512000													38	47					0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192548279	192548279	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:192548279T>G	ENST00000367459.3	+	5	523	c.457T>G	c.(457-459)Ttc>Gtc	p.F153V		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	153	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CAATATTGACTTCCGCACTCG	0.338000													10	45					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30708043	30708043	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30708043A>G	ENST00000376389.3	-	8	835	c.615T>C	c.(613-615)agT>agC	p.S205S	FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Silent_p.S157S	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	205						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTCGATCTCACTCAGGTACT	0.552000													17	52					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78710956	78710956	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:78710956G>A	ENST00000545128.1	+	8	1583	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E349K|PCSK5_ENST00000376767.3_Missense_Mutation_p.E349K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	349	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGGTACCTGGAAGAGTGTTC	0.498000													17	33					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645344	94645344	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:94645344A>C	ENST00000260526.6	-	20	2599	c.2417T>G	c.(2416-2418)cTt>cGt	p.L806R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	806	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGTCTTAGAAGGTCTTTGCT	0.294000													6	74					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18250829	18250829	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18250829A>C	ENST00000316694.3	-	5	634	c.500T>G	c.(499-501)tTt>tGt	p.F167C	SHMT1_ENST00000539052.1_Missense_Mutation_p.F29C|SHMT1_ENST00000354098.3_Missense_Mutation_p.F167C|SHMT1_ENST00000352886.6_Missense_Mutation_p.F167C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	167					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CATAGATTCAAAGAAGATGGA	0.517000													7	184					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398262	23398262	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:23398262C>T	ENST00000379361.4	+	2	1766	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	302	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TAGGCCTGCTCGGATTGGTGA	0.542000													65	2					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190962	17190962	+	Silent	SNP	G	G	A	rs150557718		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17190962G>A	ENST00000265970.7	-	1	326	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	109	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTTTAGTCTCGAAACTGTCAT	0.403000													59	78					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476755	140476755	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140476755G>A	ENST00000194155.4	+	1	2529	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		794					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGAAGAGCTTTGAATTC	0.448000													29	45					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031883	10031883	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:10031883G>A	ENST00000396573.2	-	4	1249	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	GRIN2A_ENST00000404927.2_Missense_Mutation_p.P314S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P157S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P314S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P314S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P314S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	314					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGCCTCGGGGATGTAGGAG	0.582000													14	20					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24718225	24718225	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24718225A>G	ENST00000314328.9	+	5	1562	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	SPECC1L_ENST00000541492.1_Missense_Mutation_p.Q426R|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.Q426R|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.Q426R	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	426					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GATTTACAGCAGATTACCCAG	0.458000													24	82					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169532973	169532973	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169532973C>T	ENST00000449804.2	+	1	57	c.12C>T	c.(10-12)ttC>ttT	p.F4F	FOXI1_ENST00000306268.6_Silent_p.F4F	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	4				SSF -> NSG (in Ref. 2; AAB50574).	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTCCTTCGACCTGCCGG	0.692000									Pendred syndrome				7	9					0	0	1	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31782976	31782976	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:31782976A>C	ENST00000373714.1	+	2	292	c.31A>C	c.(31-33)Aac>Cac	p.N11H	ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000546109.1_5'UTR|ZCCHC17_ENST00000422613.2_Intron|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.N11H			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	11						nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GACCATGGAAAACTTGCCTGC	0.373000													34	121					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11545755	11545755	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11545755T>C	ENST00000356392.4	-	1	170	c.83A>G	c.(82-84)aAg>aGg	p.K28R	CCDC151_ENST00000591179.1_Missense_Mutation_p.K28R|CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	28										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTCCCTGCCCTTGACCCTGGA	0.662000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	99					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428052	119428052	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:119428052G>A	ENST00000369429.3	-	8	1121	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	TBX15_ENST00000207157.3_Missense_Mutation_p.S265F			Q96SF7	TBX15_HUMAN	T-box 15	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGTTGGAGGAGAACAGGATGG	0.502000													12	14					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78357683	78357683	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78357683A>C	ENST00000582970.1	+	59	14420	c.14277A>C	c.(14275-14277)aaA>aaC	p.K4759N	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.K2832N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.K4808N	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)			TGGAACAGAAAAATGGCAAAG	0.512000													25	59					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79512807	79512807	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79512807G>A	ENST00000537152.1	-	6	2347	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	C17orf70_ENST00000327787.8_Missense_Mutation_p.P759S|C17orf70_ENST00000425898.2_Missense_Mutation_p.P408S	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	759					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGCCATCAGGGGCCACTCCC	0.652000													3	26					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6556179	6556179	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6556179G>A	ENST00000321612.6	-	18	2326	c.2176C>T	c.(2176-2178)Cta>Tta	p.L726L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	726					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCCCCGTCTAGGTAGACCTGT	0.453000													24	4					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506726	11506726	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11506726C>T	ENST00000500254.2	-	3	348	c.311G>A	c.(310-312)gGa>gAa	p.G104E	PRB1_ENST00000546254.1_Missense_Mutation_p.G104E|PRB1_ENST00000545626.1_Missense_Mutation_p.G104E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	287	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGG	0.622000													91	499					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1411452	1411452	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1411452G>A	ENST00000406424.4	-	8	1255	c.395C>T	c.(394-396)tCc>tTc	p.S132F	INPP5K_ENST00000542125.1_Intron|INPP5K_ENST00000397335.3_Missense_Mutation_p.S116F|INPP5K_ENST00000320345.6_Missense_Mutation_p.S132F|INPP5K_ENST00000421807.2_Missense_Mutation_p.S208F	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	208	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						ATTTTTAATGGATTCCCGAAC	0.537000													120	441					0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825551	52825551	+	Nonsense_Mutation	SNP	G	G	A	rs146656736	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:52825551G>A	ENST00000375511.3	-	2	948	c.196C>T	c.(196-198)Caa>Taa	p.Q66*		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	66										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTCTCCAGTTGATTTGAATGT	0.428000													37	1					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548827	50548827	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50548827A>G	ENST00000595661.1	+	6	1622	c.1127A>G	c.(1126-1128)gAg>gGg	p.E376G	ZNF473_ENST00000270617.3_Missense_Mutation_p.E376G|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.E376G|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.E364G|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	376	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTACCTCTGAGTGTCAGGAG	0.483000													10	88					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26993660	26993660	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:26993660C>T	ENST00000376215.5	+	3	270	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	PDSS1_ENST00000376203.5_Missense_Mutation_p.R73C	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	73				CR -> YS (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	p.R73S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAATGTATGTCGTATATCACG	0.289000													28	34					0	0	1	0	0
SYF2	25949	broad.mit.edu	37	1	25551580	25551580	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:25551580A>C	ENST00000236273.4	-	6	504	c.479T>G	c.(478-480)tTt>tGt	p.F160C	SYF2_ENST00000354361.3_Missense_Mutation_p.F118C	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	160						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TGTTGGGAAAAACTCTTCTCC	0.358000													23	68					0	0	1	0	0
TRAJ2	28753	broad.mit.edu	37	14	23013024	23013024	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23013024G>A	ENST00000390535.2	+	0	10																											ATGAATACTGGAGGAACAATT	0.463000													10	15					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762807	53762807	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53762807G>A	ENST00000341702.3	+	1	1263	c.1179G>A	c.(1177-1179)agG>agA	p.R393R	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	393					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATGATTTCAGGAAAATGTGAA	0.443000													13	90					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196740407	196740407	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196740407C>T	ENST00000312428.6	-	38	6378	c.6278G>A	c.(6277-6279)gGa>gAa	p.G2093E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2093	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCTGGAGGTCCCATAGCACA	0.363000													7	22					0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52329528	52329528	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52329528A>C	ENST00000298125.5	+	9	1046	c.866A>C	c.(865-867)aAg>aCg	p.K289T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	289							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TCCTGCCAAAAGTGTGATCAG	0.443000													20	67					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11845685	11845685	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:11845685G>A	ENST00000262442.3	+	67	12794	c.12726G>A	c.(12724-12726)atG>atA	p.M4242I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M4166I|DNAH9_ENST00000396001.2_Missense_Mutation_p.M554I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4242					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)		CAGAACTGATGGCCAAAGTGG	0.522000													139	7					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72951155	72951155	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:72951155T>G	ENST00000262209.4	-	19	2447	c.2240A>C	c.(2239-2241)aAc>aCc	p.N747T	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	747						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCCAGTTGAGTTGAAAGCCAT	0.313000													6	28					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547552	62547552	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:62547552G>A	ENST00000430451.2	+	4	1191	c.993_splice	c.e4-1	p.E332_splice	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Splice_Site_p.R361_splice	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	332										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCTGCAACAGGAACAGGACAG	0.483000													4	11					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36929287	36929287	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36929287G>A	ENST00000373674.3	+	3	782	c.454G>A	c.(454-456)Ggt>Agt	p.G152S		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	152						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						GAAGCTCCAGGGTGTTGAGGA	0.582000													65	94					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47463708	47463708	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:47463708G>A	ENST00000398879.1	-	10	830	c.464C>T	c.(463-465)tCc>tTc	p.S155F	TNS3_ENST00000355730.3_Missense_Mutation_p.S155F|TNS3_ENST00000458317.2_Missense_Mutation_p.S155F|TNS3_ENST00000311160.9_Missense_Mutation_p.S155F|TNS3_ENST00000442536.2_Missense_Mutation_p.S155F			Q68CZ2	TENS3_HUMAN	tensin 3	155	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCGTTTTTGGGAAGGCTGCAT	0.433000													20	34					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38136527	38136527	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38136527G>A	ENST00000308059.6	+	13	2098	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	DLEC1_ENST00000346219.3_Missense_Mutation_p.D693N|DLEC1_ENST00000452631.2_Missense_Mutation_p.D693N			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	693					negative regulation of cell proliferation	cytoplasm		p.D693Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCCCACACAGACCACGAGTT	0.527000													30	20					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101767213	101767213	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101767213G>A	ENST00000261637.4	+	53	7087	c.6913G>A	c.(6913-6915)Gaa>Aaa	p.E2305K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2305					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTCCACCTTGGAAATGATCGC	0.443000													28	3					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42950396	42950396	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:42950396C>T	ENST00000541208.1	+	3	515	c.146C>T	c.(145-147)tCc>tTc	p.S49F	ZNF662_ENST00000328199.6_Missense_Mutation_p.S109F|ZNF662_ENST00000440367.2_Missense_Mutation_p.S49F|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000422021.1_Missense_Mutation_p.S49F|KRBOX1_ENST00000426937.1_5'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGGGGCATCTCCTCAGGTGAG	0.517000													16	21					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830063	61830063	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61830063C>T	ENST00000280772.1	-	37	10767	c.10576G>A	c.(10576-10578)Gaa>Aaa	p.E3526K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3526					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCAAATTCTTCATCTACTTTG	0.413000													34	25					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112705477	112705477	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:112705477C>T	ENST00000448454.2	+	8	1014	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	PALM2_ENST00000483909.1_Silent_p.I302I|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000314527.4_Silent_p.I336I|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000374531.2_Silent_p.I304I|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						ATGAAACCATCAAGGCTGAAT	0.473000													27	62					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701068	30701068	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30701068T>G	ENST00000256246.2	-	1	5540	c.5466A>C	c.(5464-5466)ttA>ttC	p.L1822F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1822										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCAGGTCTTCTAAACTATCTC	0.368000													5	67					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653522	30653522	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30653522G>A	ENST00000274853.3	-	1	2150	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	PPP1R18_ENST00000399199.3_Missense_Mutation_p.R92W|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	92						cytoplasm|cytoskeleton	actin binding										cgctcctgcCGGATGAATCGG	0.632000													20	67					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553242	140553242	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140553242G>A	ENST00000231137.3	+	1	1000	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		276	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTAATGGGGAAATAGCCTA	0.458000													21	26					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52392002	52392002	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52392002T>C	ENST00000420323.2	+	24	4330	c.4069T>C	c.(4069-4071)Ttc>Ctc	p.F1357L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1357	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGCAAGTGCTTCGAGAACAT	0.602000													8	17					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656322	12656322	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:12656322G>A	ENST00000425538.1	+	10	1917	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	MYOCD_ENST00000343344.4_Missense_Mutation_p.E573K|MYOCD_ENST00000395988.1_Missense_Mutation_p.E477K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	573					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CATCAAGCAGGAAGAGGCTGT	0.532000													13	49					0	0	1	0	0
ATG12	9140	broad.mit.edu	37	5	115177142	115177142	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:115177142A>C	ENST00000509910.1	-	1	413	c.108T>G	c.(106-108)tcT>tcG	p.S36S	ATG12_ENST00000500945.2_Silent_p.S36S|ATG12_ENST00000274459.4_Silent_p.S83S			O94817	ATG12_HUMAN	autophagy related 12	36					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CTGCAGCGGAAGACGGGGGCT	0.552000													13	28					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802358	185802358	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185802358G>A	ENST00000302277.6	+	4	2829	c.2235G>A	c.(2233-2235)atG>atA	p.M745I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	745						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAATGATATGAAACACATGA	0.333000													14	20					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013454	149013454	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:149013454A>G	ENST00000535454.1	+	4	957	c.408A>G	c.(406-408)gcA>gcG	p.A136A	MAGEA8_ENST00000286482.1_Silent_p.A136A|MAGEA8_ENST00000542674.1_Silent_p.A136A	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	136	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAAAGGCAGAAATGCTTG	0.453000													7	46					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084811	248084811	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248084811C>T	ENST00000319968.4	+	1	492	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCTGAGCTTCCCATATTGCG	0.577000													20	36					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289149	107289149	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107289149G>A	ENST00000277216.3	-	1	341	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCATGCCAAGGAGGAAACATT	0.438000													42	104					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212568915	212568915	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:212568915G>A	ENST00000342788.4	-	11	1513	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	ERBB4_ENST00000436443.1_Silent_p.F401F|ERBB4_ENST00000402597.1_Silent_p.F401F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	401					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTATGTTCAGGAAACCTACAA	0.353000										TSP Lung(8;0.080)			24	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090343	9090343	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9090343C>T	ENST00000397910.4	-	1	1675	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	491	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						ACTCTGCCTCCCAGAGGTGCT	0.527000													33	88					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68171011	68171011	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68171011T>A	ENST00000294304.7	+	8	1751	c.1645T>A	c.(1645-1647)Ttt>Att	p.F549I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	549	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597000													4	60					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888441	46888441	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46888441G>A	ENST00000359759.4	+	2	1658	c.1637G>A	c.(1636-1638)gGg>gAg	p.G546E	COL18A1_ENST00000355480.5_Missense_Mutation_p.G311E|COL18A1_ENST00000400337.2_Missense_Mutation_p.G131E			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	546	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GTGCAGGACGGGCACCAGGAC	0.672000													65	6					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116631589	116631589	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116631589T>G	ENST00000260210.4	-	5	1139	c.1116A>C	c.(1114-1116)tcA>tcC	p.S372S	BUD13_ENST00000375445.3_Silent_p.S238S	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	372										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGACAGATCTGAATCAGAAT	0.493000													18	46					0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833400	37833400	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37833400G>A	ENST00000399137.1	-	3	1460	c.594C>T	c.(592-594)ccC>ccT	p.P198P	AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Silent_p.P198P|CLDN14_ENST00000399139.1_Silent_p.P198P|CLDN14_ENST00000399135.1_Silent_p.P198P|CLDN14_ENST00000342108.2_Silent_p.P198P	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	198					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGGTGGCCCTGGGCGGGGCCT	0.657000													33	54					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62194400	62194400	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:62194400G>A	ENST00000467148.1	-	8	5844	c.5775C>T	c.(5773-5775)ggC>ggT	p.G1925G	HELZ2_ENST00000427522.2_Silent_p.G1356G	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGTACACACGGCCTGAGAAGC	0.692000													3	9					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069032	82069032	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:82069032G>A	ENST00000199936.4	+	1	196	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	1					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CACTGAGAATGAGCACTTTCT	0.527000													23	1					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30412976	30412976	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30412976A>C	ENST00000334352.4	+	11	1229	c.998A>C	c.(997-999)aAg>aCg	p.K333T	USP16_ENST00000399975.3_Missense_Mutation_p.K332T|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.K333T	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	333					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TCTACTGAAAAGTTGGATGAA	0.259000													4	19					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40627740	40627740	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:40627740T>G	ENST00000342449.3	-	19	2164	c.2086A>C	c.(2086-2088)Agc>Cgc	p.S696R	BRWD1_ENST00000333229.2_Missense_Mutation_p.S696R|BRWD1_ENST00000380800.3_Missense_Mutation_p.S696R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGTCTAAGCTCAGCCTTCTA	0.418000													8	31					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802086	140802086	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140802086C>T	ENST00000398587.2	+	1	1325	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.P431L|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGAAGCCCGCCTTTGTCT	0.468000													28	30					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558846	113558846	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:113558846G>A	ENST00000284601.3	-	1	274	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	69					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATCCAAAGGAATCAGCAAA	0.418000													35	37					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717433	222717433	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:222717433G>A	ENST00000343410.6	-	2	478	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	140					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGTTAGAATGGAAGGCAGAGC	0.607000													83	114					0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202503724	202503724	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:202503724T>G	ENST00000409444.2	-	4	417	c.100A>C	c.(100-102)Aaa>Caa	p.K34Q	TMEM237_ENST00000409883.2_Missense_Mutation_p.K42Q	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	66						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GGTGTGTTTTTTGTTCTGGGC	0.398000													3	4					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378231	14378231	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:14378231C>T	ENST00000403951.2	-	23	2453	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.K670K|DGKB_ENST00000444700.2_Silent_p.K659K|DGKB_ENST00000399322.3_Silent_p.K678K|DGKB_ENST00000406247.3_Silent_p.K678K|DGKB_ENST00000258767.5_Silent_p.K678K|DGKB_ENST00000402815.1_Silent_p.K677K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	678					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCGTCTTTTCTTAGACTCTC	0.403000													39	48					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179483632	179483632	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:179483632T>C	ENST00000263966.3	+	19	2880	c.2409T>C	c.(2407-2409)tcT>tcC	p.S803S	USP13_ENST00000496897.1_Silent_p.S738S	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	803					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGGATGGATCTGGAAGTAAGT	0.458000													4	77					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722475	14722475	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:14722475T>A	ENST00000380911.3	-	1	240	c.196A>T	c.(196-198)Acc>Tcc	p.T66S		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	66					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCAGGGCTGGTGGCTACAAGG	0.547000													6	89					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36517546	36517546	+	Silent	SNP	C	C	T	rs150506662		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36517546C>T	ENST00000360535.4	-	5	731	c.504G>A	c.(502-504)gcG>gcA	p.A168A	CLIP3_ENST00000593074.1_Silent_p.A168A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	168					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAAAATAGGCCGCGTAGTGAA	0.687000													14	15					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771558	118771558	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:118771558G>A	ENST00000334801.3	-	6	3858	c.2894C>T	c.(2893-2895)cCt>cTt	p.P965L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	965	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTTGGCAGAAGGCAAGGGCAC	0.637000													66	5					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183646565	183646565	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183646565A>G	ENST00000334444.6	-	27	4143	c.3903T>C	c.(3901-3903)gaT>gaC	p.D1301D	ABCC5_ENST00000265586.6_Silent_p.D1258D	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1301	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTCCAGGGCATCCCAAATCT	0.512000													5	129					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141044630	141044630	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:141044630C>T	ENST00000239440.4	-	19	2724	c.2659G>A	c.(2659-2661)Ggc>Agc	p.G887S	ARAP3_ENST00000513878.1_Missense_Mutation_p.G549S|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.G789S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	887					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCCAGCCGGCCCTCTCCTTGC	0.662000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590551	140590551	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140590551T>G	ENST00000239450.2	+	1	2261	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V354G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		691					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTACCTGGTGGTGGCGTTG	0.706000													43	57					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122395121	122395121	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122395121A>C	ENST00000288912.4	+	11	2531	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D	WDR66_ENST00000397454.2_Missense_Mutation_p.E559D	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	559							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCCTACTGAAAAATCAAACT	0.388000													18	31					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7327114	7327114	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7327114C>T	ENST00000502583.1	-	14	3061	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	SSR1_ENST00000488834.1_Intron|CAGE1_ENST00000296742.7_Missense_Mutation_p.E635K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E771K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E811K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	771										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTCTATTTTCTTTAAAAAGA	0.328000													32	44					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840449	27840449	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:27840449G>A	ENST00000356790.2	+	3	1271	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	342										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGTCCAGCAAGTCCTCCCAAC	0.512000													23	1					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728897	15728897	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15728897C>T	ENST00000441682.2	+	0	349							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGGGCCCCATCACTCCCATCA	0.582000													70	74					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89851007	89851007	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89851007A>T	ENST00000370456.4	+	11	1974	c.1881A>T	c.(1879-1881)aaA>aaT	p.K627N	GBP6_ENST00000535065.1_Missense_Mutation_p.K497N	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	627							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)		CACTCTTTAAAAAGCATAAGC	0.358000													9	39					0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141484290	141484290	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141484290G>A	ENST00000262999.3	-	4	677	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	201					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TTTCACAAAGGCCTCCTTCAT	0.383000													12	35					0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150598177	150598177	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150598177G>A	ENST00000271690.8	-	3	397	c.291C>T	c.(289-291)atC>atT	p.I97I	ENSA_ENST00000503241.1_Silent_p.I113I|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000356527.5_Silent_p.I120I|ENSA_ENST00000339643.5_Silent_p.I113I|ENSA_ENST00000369014.5_Silent_p.I97I|ENSA_ENST00000369016.4_Silent_p.I113I|ENSA_ENST00000361631.5_Silent_p.I109I|ENSA_ENST00000369009.3_Silent_p.I120I|ENSA_ENST00000361532.5_Silent_p.I93I|ENSA_ENST00000513281.1_Silent_p.I93I|ENSA_ENST00000354702.3_5'UTR	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	97					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGGTGGGGATGTGATCAC	0.562000													27	24					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18020473	18020473	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18020473C>A	ENST00000262608.8	+	13	1805	c.1805C>A	c.(1804-1806)cCc>cAc	p.P602H	CECR2_ENST00000400573.4_Missense_Mutation_p.P601H|CECR2_ENST00000400585.2_Missense_Mutation_p.P460H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	643					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCCAGGCACCCTTTTTAAAC	0.522000													30	55					3.03874e-20	3.06566e-20	1	1	0
PRKCQ	5588	broad.mit.edu	37	10	6498775	6498775	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:6498775C>T	ENST00000263125.5	-	15	1608		c.e15-1		PRKCQ_ENST00000397176.2_Splice_Site|PRKCQ_ENST00000539722.1_Splice_Site	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta						axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTCAGGTCCCTGAAAAACAA	0.398000													12	21					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863832	55863832	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:55863832G>A	ENST00000327335.4	-	1	90	c.91C>T	c.(91-93)Cta>Tta	p.L31L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACACAATTTAGAAGTAGAAAT	0.368000													32	5					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537811	36537811	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36537811T>C	ENST00000424878.2	-	4	2194	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	APOL3_ENST00000361710.2_Missense_Mutation_p.S16G|APOL3_ENST00000397287.2_Missense_Mutation_p.S16G|APOL3_ENST00000349314.2_Missense_Mutation_p.S216G|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397293.2_Missense_Mutation_p.S145G			O95236	APOL3_HUMAN	apolipoprotein L, 3	216					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AGGGCCAGACTCGTCCCTGCT	0.577000													6	32					0	0	1	0	0
TXLNG	55787	broad.mit.edu	37	X	16850829	16850829	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:16850829A>T	ENST00000380122.5	+	6	1009	c.948A>T	c.(946-948)aaA>aaT	p.K316N	TXLNG_ENST00000398155.4_Missense_Mutation_p.K184N	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	316					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						AACTGATAAAAGAAGCTGATG	0.393000													18	27					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183521773	183521773	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183521773A>C	ENST00000305135.5	+	27	3777		c.e27-1			NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTTTTTTTAAGTGGCAAAGA	0.388000													8	103					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110734570	110734570	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110734570G>A	ENST00000368924.3	-	2	195	c.180C>T	c.(178-180)acC>acT	p.T60T	DDO_ENST00000368923.3_Silent_p.T60T|DDO_ENST00000368925.1_Silent_p.T32T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	32					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTGAAATGATGGTAACGGAGC	0.537000													44	59					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66291292	66291292	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66291292T>A	ENST00000419755.3	+	11	1238	c.1160T>A	c.(1159-1161)cTg>cAg	p.L387Q	BBS1_ENST00000529766.1_3'UTR|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.L253Q|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000318312.7_Missense_Mutation_p.L350Q																							ATGGCTGGGCTGGCCAATGGA	0.617000													9	50					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4751074	4751074	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4751074T>C	ENST00000304283.4	-	11	1475	c.1181A>G	c.(1180-1182)aAg>aGg	p.K394R	ANKS3_ENST00000585773.1_Missense_Mutation_p.K321R|ANKS3_ENST00000450067.2_Missense_Mutation_p.K188R|ANKS3_ENST00000446014.2_Missense_Mutation_p.K265R	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	394										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GTCAGGATTCTTGGTCTTCAT	0.577000													11	154					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882357	43882357	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:43882357T>G	ENST00000443950.2	-	3	1462	c.976A>C	c.(976-978)Aga>Cga	p.R326R	HNRNPF_ENST00000544000.1_Silent_p.R326R|HNRNPF_ENST00000357065.4_Silent_p.R326R|HNRNPF_ENST00000356053.3_Silent_p.R326R|HNRNPF_ENST00000337970.3_Silent_p.R326R	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	326	RRM 3.	Interaction with RNA.			regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCCGTCACTCTTCCATCTGGG	0.483000													6	46					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24183669	24183669	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24183669G>A	ENST00000303531.7	+	11	1470	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	PRKCB_ENST00000321728.7_Missense_Mutation_p.E440K	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	440	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CCGGTTCAAGGAGCCCCATGC	0.512000													14	7					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35884163	35884163	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35884163C>T	ENST00000314607.6	+	29	4509	c.4429C>T	c.(4429-4431)Ctg>Ttg	p.L1477L	ZMYM4_ENST00000373297.2_Silent_p.L1388L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1477					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)				TGAGTTTTACCTGTCAAAATG	0.413000													48	41					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921669	213921669	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:213921669C>T	ENST00000457361.1	-	4	462	c.294G>A	c.(292-294)gaG>gaA	p.E98E	IKZF2_ENST00000451136.2_Silent_p.E98E|IKZF2_ENST00000421754.2_Silent_p.E98E|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Silent_p.E98E|IKZF2_ENST00000434687.1_Silent_p.E98E|IKZF2_ENST00000342002.2_Silent_p.E104E|IKZF2_ENST00000374319.4_Silent_p.E98E	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGCCTTGAAGCTCCTGGACTT	0.512000													42	25					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959588	129959588	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129959588A>C	ENST00000368149.2	-	3	591	c.503T>G	c.(502-504)aTt>aGt	p.I168S		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	168					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GACGTCAGGAATCTGGTACTG	0.403000													33	82					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65306022	65306022	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65306022C>T	ENST00000270176.5	+	18	2489	c.2412C>T	c.(2410-2412)gcC>gcT	p.A804A	SCYL1_ENST00000279270.6_3'UTR|SCYL1_ENST00000527009.1_Silent_p.A661A|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000527630.1_Silent_p.A703A|SCYL1_ENST00000533862.1_3'UTR|SCYL1_ENST00000525364.1_3'UTR|SCYL1_ENST00000524944.1_3'UTR|SCYL1_ENST00000420247.2_Silent_p.A787A	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	804	Interaction with COPB1 (By similarity).				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AGCTGGGAGCCCGGAAGCTGG	0.672000													14	18					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30115558	30115558	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30115558A>C	ENST00000396581.1	+	6	1132	c.746A>C	c.(745-747)gAa>gCa	p.E249A	TRIM40_ENST00000307859.4_Missense_Mutation_p.E220A|TRIM40_ENST00000376724.2_Missense_Mutation_p.E249A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	249						intracellular	zinc ion binding			ovary(1)	1						GGAGTCAGTGAATTGCTTCTT	0.448000													15	90					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36896631	36896631	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:36896631T>G	ENST00000580830.1	-	4	726	c.25A>C	c.(25-27)Atc>Ctc	p.I9L	PCGF2_ENST00000579882.1_Missense_Mutation_p.I9L|PCGF2_ENST00000585100.1_Missense_Mutation_p.I9L|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Missense_Mutation_p.I9L|PCGF2_ENST00000581345.1_Missense_Mutation_p.I9L			P35227	PCGF2_HUMAN	polycomb group ring finger 2	9					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCTCTGTGATTTTGATCCGT	0.597000													8	68					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842960	7842960	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7842960C>T	ENST00000329913.3	-	2	656	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	203					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGACCAGTATCTCCAGGAATA	0.498000													30	34					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348832	103348832	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103348832C>T	ENST00000358392.2	-	64	5247	c.4930G>A	c.(4930-4932)Gga>Aga	p.G1644R	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1516R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1632R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1593R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1632	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGGAATCTCCTGAGCAACCT	0.353000													37	51					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32351530	32351530	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:32351530C>T	ENST00000298386.2	+	8	730	c.659C>T	c.(658-660)cCa>cTa	p.P220L	RXFP2_ENST00000380314.1_Missense_Mutation_p.P220L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	220						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GATGACAATCCAATAACCAGA	0.353000													7	4					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81736953	81736953	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:81736953G>A	ENST00000267540.2	-	5	2874	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	892					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AATAAGAGGGGGAGGGTAGTG	0.493000													52	56					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017577	161017577	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161017577G>A	ENST00000368013.3	-	12	3554	c.3234C>T	c.(3232-3234)ccC>ccT	p.P1078P	ARHGAP30_ENST00000368015.1_Silent_p.P901P|ARHGAP30_ENST00000368016.3_Silent_p.P867P	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1078					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGACAACAGGGGGTCAGGAA	0.582000													21	79					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925425	70925425	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70925425C>T	ENST00000603540.1	+	2	1467	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.I403I	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	403					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.I403I(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGGGAAATCTTTATGCTAA	0.458000													40	45					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311622	6311622	+	Translation_Start_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:6311622C>T	ENST00000400104.3	-	3	203	c.3G>A	c.(1-3)atG>atA	p.M1I	L3MBTL4_ENST00000400105.2_Start_Codon_SNP_p.M1I|L3MBTL4_ENST00000317931.7_Start_Codon_SNP_p.M1I|L3MBTL4_ENST00000284898.6_Start_Codon_SNP_p.M1I			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	1					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGGCTGTTTCATTGCCACCC	0.493000													181	102					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32417814	32417814	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:32417814A>G	ENST00000265069.8	-	4	606	c.504T>C	c.(502-504)gcT>gcC	p.A168A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	168	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTACAGCAGCAGCAGTTGCTG	0.428000													7	136					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548509	52548509	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:52548509G>A	ENST00000242839.4	-	2	1003	c.847C>T	c.(847-849)Cta>Tta	p.L283L	ATP7B_ENST00000542656.1_Silent_p.L251L|ATP7B_ENST00000400370.3_Silent_p.L283L|ATP7B_ENST00000344297.5_Silent_p.L283L|ATP7B_ENST00000448424.2_Silent_p.L283L|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.L283L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	283	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGAACCCCTAGGAGCTGGCCA	0.473000									Wilson disease				25	56					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307540	140307540	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140307540C>T	ENST00000253807.2	+	1	1063	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.P355S|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCTGCCCCTGGCACAGT	0.522000													28	31					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139341420	139341420	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139341420G>A	ENST00000313084.5	-	6	1025	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313050.7_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2053					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGAGAGCGAGGAGGCCATCA	0.602000													50	34					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8396123	8396123	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8396123A>G	ENST00000360416.3	-	33	4567	c.4429T>C	c.(4429-4431)Ttg>Ctg	p.L1477L	MYH10_ENST00000396239.1_Silent_p.L1467L|MYH10_ENST00000379980.4_Silent_p.L1462L|MYH10_ENST00000269243.4_Silent_p.L1446L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1446					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCTCCAAGTTGGAGGCG	0.537000													18	50					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904839	60904839	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60904839G>A	ENST00000252999.3	-	32	4179	c.4113C>T	c.(4111-4113)ctC>ctT	p.L1371L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1371	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGCCAGAGCCACCGGC	0.627000													12	16					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724531	50724531	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:50724531C>T	ENST00000404971.1	-	15	4278	c.2939G>A	c.(2938-2940)gGa>gAa	p.G980E	NRXN1_ENST00000406859.3_Missense_Mutation_p.G940E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G940E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G932E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G940E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G932E|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	940	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGAATTAATCCATCTAGGGA	0.368000													10	27					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793036	31793036	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31793036T>A	ENST00000396193.1	-	19	2865	c.2272A>T	c.(2272-2274)Aag>Tag	p.K758*	PDE1C_ENST00000396191.1_Nonsense_Mutation_p.K698*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.K698*	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	698					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTCTGAATCTTTTTCATTTTG	0.468000													138	160					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155747457	155747457	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155747457G>A	ENST00000437809.1	-	15	2169	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	GON4L_ENST00000361040.5_Silent_p.L683L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.L683L|GON4L_ENST00000368331.1_Silent_p.L683L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	683					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGGGTCCAGAATCAGAGTC	0.438000													59	83					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584058	11584058	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:11584058A>C	ENST00000294484.6	+	11	2560	c.2422A>C	c.(2422-2424)Aag>Cag	p.K808Q	PTCHD2_ENST00000389575.3_Missense_Mutation_p.K808Q	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	808					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGAGAAGAAGAGGCGAGG	0.657000													13	75					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62487036	62487036	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62487036T>C	ENST00000539111.2	-	4	913	c.846A>G	c.(844-846)gaA>gaG	p.E282E		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	282					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CTTTCCGGCCTTCTTCATCCT	0.373000													14	52					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49104392	49104392	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49104392G>A	ENST00000263266.3	-	5	1600	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	471										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGTCCTGCCCGGGGGGCCCAG	0.652000													26	30					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141215150C>T	ENST00000389484.3	-	61	10667	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)			65	29					0	0	1	0	0
IGFBP3	3486	broad.mit.edu	37	7	45957038	45957038	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:45957038C>T	ENST00000275521.6	-	2	537	c.403_splice	c.e2-1	p.G135_splice	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Splice_Site_p.G141_splice|IGFBP3_ENST00000381086.5_Splice_Site_p.G38_splice	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	135				G -> GEPPAPG (in Ref. 4; ABB96247).	negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTAGCATTTCCTTAAAACGC	0.502000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	33					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45496105	45496105	+	Missense_Mutation	SNP	G	G	A	rs138129932		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45496105G>A	ENST00000541297.2	+	14	2383	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	CLPTM1_ENST00000546079.1_Missense_Mutation_p.E552K|CLPTM1_ENST00000337392.5_Missense_Mutation_p.E654K			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	654					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTCTGCCAGCGAGCCCCAGGA	0.672000													34	20					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745836	140745836	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140745836G>A	ENST00000518069.1	+	1	1939	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGTCGAAGACCATGG	0.652000													50	70					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065774	23065774	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23065774G>A	ENST00000246006.4	-	1	1203	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	352	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGCACAGGGGGAGTCCTGGC	0.637000													23	25					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474860	140474860	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140474860G>A	ENST00000194155.4	+	1	634	c.486G>A	c.(484-486)ttG>ttA	p.L162L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		162	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGACTTGGATGTAGGAA	0.378000													9	12					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186370169	186370169	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:186370169C>T	ENST00000265029.3	+	7	999	c.898C>T	c.(898-900)Cca>Tca	p.P300S	FETUB_ENST00000539949.1_Missense_Mutation_p.P152S|FETUB_ENST00000382136.3_Missense_Mutation_p.P263S|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.P235S|FETUB_ENST00000450521.1_Missense_Mutation_p.P300S	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	300						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAAAGCTGGGCCAAGAGGATC	0.498000													123	81					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595031	44595031	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:44595031G>A	ENST00000372299.3	+	2	146	c.88G>A	c.(88-90)Gag>Aag	p.E30K	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	30					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGGATAACGAGAACTCAGC	0.488000													54	102					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455244	29455244	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29455244G>A	ENST00000377127.3	-	1	494	c.436C>T	c.(436-438)Cct>Tct	p.P146S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	146						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGGAAATCAGGGATAAAAAAC	0.522000													27	32					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297722	10297722	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10297722G>A	ENST00000403437.2	-	35	5104	c.5010C>T	c.(5008-5010)ctC>ctT	p.L1670L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1670					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTGTTCCTTGAGGTCCTCCT	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				32	30					0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72520948	72520948	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:72520948A>G	ENST00000377197.3	+	6	673	c.586A>G	c.(586-588)Aga>Gga	p.R196G	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	196						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TGGTTCTAAAAGATTTGGCAT	0.398000													4	52					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112732865	112732865	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112732865G>A	ENST00000295408.4	+	7	1217		c.e7-1		MERTK_ENST00000409780.1_Splice_Site|MERTK_ENST00000421804.2_Splice_Site			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase						cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCTTCGTTTAGGTCAAGGAAG	0.522000													21	70					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612791	20612791	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20612791G>A	ENST00000333629.1	+	1	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTTCCATGAGGAAGTTGTTAA	0.383000													29	49					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32794668	32794668	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32794668G>A	ENST00000373548.3	+	7	720		c.e7-1		HDAC1_ENST00000373541.2_Splice_Site|HDAC1_ENST00000490081.1_Splice_Site	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1						anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TTTTTAATTAGGATATCGGGG	0.463000													81	51					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957473	57957473	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57957473G>A	ENST00000455537.2	+	3	562	c.288G>A	c.(286-288)atG>atA	p.M96I	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	96	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACATACCATGGAGGTGAGGG	0.493000													40	2					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53041570	53041570	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53041570C>T	ENST00000309680.3	-	6	1213	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	398	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CGGTTCAGCTCGCTGATCTCT	0.572000													14	1					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236546	140236546	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140236546G>A	ENST00000307360.5	+	1	913	c.913G>A	c.(913-915)Gat>Aat	p.D305N	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D305N|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.D305N(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGTAAATGATGCTATTGA	0.383000													23	20					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149041	242149041	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:242149041C>T	ENST00000274979.8	+	13	1615	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	ANO7_ENST00000402430.3_Silent_p.I503I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	504						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGTGGTGATCGTGGTGATGG	0.672000													22	26					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90896108	90896108	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:90896108C>T	ENST00000287934.2	+	1	2326	c.1913C>T	c.(1912-1914)aCc>aTc	p.T638I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	638					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACGAGGCTCACCAACAGCAAA	0.612000													43	45					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487711	155487711	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155487711G>C	ENST00000302068.4	+	3	440	c.377G>C	c.(376-378)aGt>aCt	p.S126T	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	126					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATCAGAAATAGTGTTGATGAG	0.423000													22	54					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947219	145947219	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145947219A>C	ENST00000292562.7	-	5	2101	c.1826T>G	c.(1825-1827)cTt>cGt	p.L609R	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ATGTTGAATAAGGGTTGACTT	0.478000													13	44					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973517	166973517	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:166973517G>A	ENST00000367872.4	+	6	868	c.624G>A	c.(622-624)ggG>ggA	p.G208G	MAEL_ENST00000367870.2_Silent_p.G177G|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	208					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CCAACCCAGGGAACTGGCCAC	0.348000													24	47					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93651957	93651957	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:93651957T>G	ENST00000343253.7	+	4	861	c.359T>G	c.(358-360)cTa>cGa	p.L120R	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.L120R|CCDC18_ENST00000557479.1_Missense_Mutation_p.L238R			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	120										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CGAGAGAAACTAAATAAACTT	0.318000													13	25					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67105498	67105498	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:67105498A>C	ENST00000371037.4	+	5	287	c.210A>C	c.(208-210)gaA>gaC	p.E70D	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.E45D|SGIP1_ENST00000371039.1_Missense_Mutation_p.E46D|SGIP1_ENST00000237247.6_Missense_Mutation_p.E74D|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	70					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTATGCGGAAATTGATTGGG	0.299000													8	49					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289810	5289810	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5289810C>T	ENST00000380237.1	-	5	677	c.333G>A	c.(331-333)atG>atA	p.M111I	HBE1_ENST00000292896.2_Missense_Mutation_p.M111I|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	111					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATAATCACCATCACGTTAC	0.468000													52	91					0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131897828	131897828	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:131897828C>T	ENST00000403716.1	+	7	1072	c.512C>T	c.(511-513)cCc>cTc	p.P171L	PLEKHB2_ENST00000409279.1_Missense_Mutation_p.P171L|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.P179L|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.P171L|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000438882.2_Intron|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.P123L|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.P127S|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.P170L	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	171						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TATGCCGTGCCCTACCAGTAC	0.507000													5	18					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41048638	41048638	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:41048638T>C	ENST00000324545.7	+	26	4520	c.3887T>C	c.(3886-3888)tTt>tCt	p.F1296S	USP9X_ENST00000378308.2_Missense_Mutation_p.F1296S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1296					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCTTATGTTTTGCCTTGATT	0.403000													16	27					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212427	113212427	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:113212427C>T	ENST00000401783.2	-	24	4351	c.4015G>A	c.(4015-4017)Ggt>Agt	p.G1339S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1316S|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1339S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1339	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATCGGGTACCCAAAAATCCA	0.458000													125	79					0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29536301	29536301	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29536301C>T	ENST00000400338.2	+	8	1259	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	KREMEN1_ENST00000400335.4_Silent_p.L385L|KREMEN1_ENST00000327813.5_Silent_p.L402L|KREMEN1_ENST00000407188.1_Silent_p.L400L			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	400					cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CAACTCTCCTCATCCTCACAG	0.488000													27	75					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83963402	83963402	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:83963402G>A	ENST00000369705.3	-	7	876	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ME1_ENST00000543031.1_Missense_Mutation_p.R179C|ME1_ENST00000541327.1_Missense_Mutation_p.R88C	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	254					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCAGGAGACGAAATGCATTC	0.328000													28	3					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	1976462	1976462	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:1976462G>A	ENST00000406869.1	-	17	2225	c.1668C>T	c.(1666-1668)cgC>cgT	p.R556R	MAD1L1_ENST00000402746.1_Silent_p.R464R|MAD1L1_ENST00000265854.7_Silent_p.R556R|MAD1L1_ENST00000399654.2_Silent_p.R556R			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	556			R -> C (in a prostate cancer cell line; somatic mutation).|R -> H (in one individual with lung cancer).		cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCTCGCGCAGGCGCTGCCTGG	0.662000													4	13					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23222020	23222020	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23222020C>T	ENST00000400191.3	+	8	1665	c.1647C>T	c.(1645-1647)gcC>gcT	p.A549A	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.A544A|EPHB2_ENST00000374632.3_Silent_p.A549A|EPHB2_ENST00000374630.3_Silent_p.A549A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	549					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCTCCTCGGCCGCTGGCCTGG	0.607000													42	60					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143058	41143058	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41143058C>T	ENST00000263413.3	-	18	2938	c.2674G>A	c.(2674-2676)Gga>Aga	p.G892R	C6_ENST00000337836.5_Missense_Mutation_p.G892R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	892	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTTGGTTTCCACCCTTGAAG	0.443000													12	68					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38092097	38092097	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:38092097T>G	ENST00000397166.2	+	3	931	c.406T>G	c.(406-408)Tta>Gta	p.L136V	DDHD2_ENST00000520272.2_Missense_Mutation_p.L136V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	136					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAGCCAAGTTTTAGAGGTATT	0.353000													15	80					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158647503	158647503	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158647503T>A	ENST00000368148.3	-	7	1114	c.934A>T	c.(934-936)Aat>Tat	p.N312Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.N312Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	312					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAGCAAGATTTCTCTCAAGT	0.463000													8	33					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052594	17052594	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:17052594G>A	ENST00000418129.2	+	2	1843	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	PLCL2_ENST00000396755.2_Missense_Mutation_p.E460K|PLCL2_ENST00000432376.1_Missense_Mutation_p.E460K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	586	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTTACTGACGAAGATGAAGG	0.423000													28	15					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677240	64677240	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64677240T>C	ENST00000421419.2	-	14	2134	c.2020A>G	c.(2020-2022)Agt>Ggt	p.S674G	ATG2A_ENST00000377264.3_Missense_Mutation_p.S674G			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	674							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGGCTCACTCAGCTCCAGC	0.706000													7	85					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156621282	156621282	+	Silent	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156621282C>A	ENST00000329117.4	+	7	1434	c.1098C>A	c.(1096-1098)tcC>tcA	p.S366S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S366S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	366					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAGgcctccaacccagcct	0.587000													20	31					2.4624e-09	2.47364e-09	1	1	0
SACS	26278	broad.mit.edu	37	13	23929328	23929328	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23929328T>C	ENST00000382298.3	-	8	2011	c.1423A>G	c.(1423-1425)Agg>Ggg	p.R475G	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.R475G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	475					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTATGCTCCTGCGGTTATCA	0.483000													7	56					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116836410	116836410	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:116836410G>A	ENST00000265132.3	-	4	622	c.360C>T	c.(358-360)tcC>tcT	p.S120S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	120					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGACCACATAGGACTCCATGG	0.498000													16	25					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32624387	32624387	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:32624387C>A	ENST00000335185.5	-	18	3253	c.3210G>T	c.(3208-3210)gaG>gaT	p.E1070D	EIF3M_ENST00000531120.1_3'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	1070										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCCAACGTCTCTTCTGCTT	0.294000													7	4					1.12685e-05	1.12897e-05	1	1	0
C6orf222	389384	broad.mit.edu	37	6	36298049	36298049	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36298049C>T	ENST00000437635.2	-	2	596	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	140										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCTGGCTCCCCTGCTGCTTC	0.622000													13	60					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535107	169535107	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169535107G>A	ENST00000306268.6	+	2	690	c.629G>A	c.(628-630)gGa>gAa	p.G210E	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	210					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGACAATGGAAATTTCCGC	0.483000									Pendred syndrome				14	10					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947152	165947152	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:165947152C>T	ENST00000360093.3	-	28	6002	c.5511G>A	c.(5509-5511)atG>atA	p.M1837I	SCN3A_ENST00000540861.1_Missense_Mutation_p.M320I|SCN3A_ENST00000409101.3_Missense_Mutation_p.M1788I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1837I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1837						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGGGCAGATCCATGGCAATAA	0.468000													59	32					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7406499	7406499	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7406499T>C	ENST00000322644.6	+	17	3215	c.2816T>C	c.(2815-2817)gTg>gCg	p.V939A		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	939					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGGACCTGGTGAAGGACGTG	0.587000													13	40					0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954778	10954778	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10954778G>A	ENST00000240687.2	-	1	448	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	131					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TAGAATCCAGGAAATCACCCT	0.438000													10	17					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180235663	180235663	+	Missense_Mutation	SNP	G	G	A	rs150875319	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180235663G>A	ENST00000263726.2	+	3	629	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	129	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CACGGGGGACGAATTCTACCT	0.607000													23	23					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191454	23191454	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23191454G>A	ENST00000400191.3	+	5	1070	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.G345E|EPHB2_ENST00000374632.3_Missense_Mutation_p.G351E|EPHB2_ENST00000374630.3_Missense_Mutation_p.G351E|EPHB2_ENST00000544305.1_Missense_Mutation_p.G351E	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	351	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCGACTCCGGAGGCCGAGAG	0.662000													68	170					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936836	209936836	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209936836G>A	ENST00000367024.1	+	8	1122		c.e8-1		TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000400959.3_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CGCACCCCCAGGAGGCCCTAC	0.527000													21	30					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11333704	11333704	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11333704A>G	ENST00000294618.7	-	25	3045	c.3034T>C	c.(3034-3036)Ttt>Ctt	p.F1012L	DOCK6_ENST00000319867.7_Missense_Mutation_p.F351L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1012					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTGAAGACAAAGCCCCGGTCC	0.617000													16	73					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885322	13885322	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13885322C>T	ENST00000265104.4	-	19	2863	c.2759G>A	c.(2758-2760)gGa>gAa	p.G920E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	920	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCAAAATTTCCTTCTTCTCT	0.383000									Kartagener syndrome				39	16					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450654	105450654	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105450654T>A	ENST00000337685.2	+	5	2014	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.I410K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.I410K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	410	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGCAGTGATAAAAAGTATC	0.348000													8	0					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39371532	39371532	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39371532G>A	ENST00000249396.7	-	12	1054	c.753C>T	c.(751-753)ttC>ttT	p.F251F	SIRT2_ENST00000358931.5_Silent_p.F251F|SIRT2_ENST00000392081.2_Silent_p.F214F	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	251	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CCACCTTCAGGAAGTCCTGCG	0.687000													31	44					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067302	102067302	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:102067302T>G	ENST00000549145.1	+	25	2829	c.2729T>G	c.(2728-2730)tTt>tGt	p.F910C	MYBPC1_ENST00000550270.1_Missense_Mutation_p.F897C|MYBPC1_ENST00000392934.3_Missense_Mutation_p.F866C|MYBPC1_ENST00000551300.1_Missense_Mutation_p.F780C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.F904C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.F867C|MYBPC1_ENST00000553190.1_Missense_Mutation_p.F879C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.F904C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.F853C|MYBPC1_ENST00000536007.1_Missense_Mutation_p.F860C|MYBPC1_ENST00000547509.1_Missense_Mutation_p.F865C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.F897C|MYBPC1_ENST00000360610.2_Missense_Mutation_p.F897C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.F897C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.F879C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	897	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAATCATATTTATTAGAAAA	0.388000													63	80					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580486	77580486	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77580486A>G	ENST00000361786.2	+	4	1342	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	342										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TTGATTCGTCAGAATCAGGCA	0.493000													10	51					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8434176	8434176	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8434176G>C	ENST00000301455.2	+	4	792	c.621G>C	c.(619-621)caG>caC	p.Q207H	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q40H|ANGPTL4_ENST00000393962.2_Intron	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	207	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TCCAGCCTCAGGGGTCTCCGC	0.542000													14	26					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68549423	68549423	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:68549423G>A	ENST00000265641.5	-	11	1322	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	CPT1A_ENST00000539743.1_Missense_Mutation_p.P390S|CPT1A_ENST00000540367.1_Missense_Mutation_p.P390S|CPT1A_ENST00000376618.2_Missense_Mutation_p.P390S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	390					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTGGCCCAGGGAACTCTGCAG	0.468000													20	22					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190996	42190996	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42190996T>G	ENST00000006724.3	-	2	422	c.221A>C	c.(220-222)cAt>cCt	p.H74P	CEACAM7_ENST00000602225.1_Missense_Mutation_p.H74P|CEACAM7_ENST00000401731.1_Missense_Mutation_p.H74P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.H74P|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	74	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATAGTTGGCATGCACCCTTTC	0.458000													24	171					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934380	39934380	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39934380T>G	ENST00000564288.1	+	96	22642	c.21865T>G	c.(21865-21867)Tta>Gta	p.L7289V	MACF1_ENST00000539005.1_Missense_Mutation_p.L5094V|MACF1_ENST00000289893.4_Missense_Mutation_p.L5732V|MACF1_ENST00000317713.7_Missense_Mutation_p.L5224V|MACF1_ENST00000361689.2_Missense_Mutation_p.L5224V|MACF1_ENST00000372915.3_Missense_Mutation_p.L7182V|MACF1_ENST00000567887.1_Missense_Mutation_p.L7326V|MACF1_ENST00000545844.1_Missense_Mutation_p.L5224V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7182	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATGAATTTTTAGTGAAAAA	0.483000													18	58					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427417	27427417	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:27427417T>G	ENST00000295736.5	-	23	3501	c.3431A>C	c.(3430-3432)aAg>aCg	p.K1144T	SLC4A7_ENST00000440156.1_Missense_Mutation_p.K1140T|SLC4A7_ENST00000388777.4_Missense_Mutation_p.K694T|SLC4A7_ENST00000446700.1_Missense_Mutation_p.K1136T|SLC4A7_ENST00000454389.1_Missense_Mutation_p.K1153T|SLC4A7_ENST00000435667.2_Missense_Mutation_p.K1029T|SLC4A7_ENST00000437179.1_Missense_Mutation_p.K1025T|SLC4A7_ENST00000428386.1_Missense_Mutation_p.K1020T|SLC4A7_ENST00000445684.1_Missense_Mutation_p.K1140T|SLC4A7_ENST00000455077.1_Missense_Mutation_p.K1025T|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1144						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						atcttctttctttttcttact	0.343000													12	50					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012441	29012441	+	Missense_Mutation	SNP	C	C	T	rs55974987	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:29012441C>T	ENST00000282397.4	-	4	681	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FLT1_ENST00000541932.1_Missense_Mutation_p.E144K|FLT1_ENST00000539099.1_Missense_Mutation_p.E144K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	144			E -> K (in dbSNP:rs55974987).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTATAATTTCGGGGATTTCA	0.383000													14	11					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23713939	23713939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:23713939C>T	ENST00000308268.6	+	1	99	c.10C>T	c.(10-12)Cga>Tga	p.R4*	PSMA8_ENST00000343848.6_Nonsense_Mutation_p.R4*|PSMA8_ENST00000415576.2_Nonsense_Mutation_p.R4*	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GATGGCGTCTCGATATGACAG	0.602000													44	58					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29246015	29246015	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:29246015C>T	ENST00000379558.4	+	12	1926	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	FAM179A_ENST00000403861.2_Silent_p.L470L|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	525							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAGGTCCTCACCGGGAAGC	0.627000													4	1					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639206	6639206	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6639206T>G	ENST00000333172.6	+	6	2281	c.2088T>G	c.(2086-2088)acT>acG	p.T696T	TAS1R1_ENST00000351136.3_Silent_p.T442T|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	696					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGTCTAACTTGGCTGGTGG	0.567000													16	77					0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37872964	37872964	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37872964T>G	ENST00000356998.3	-	5	840	c.617A>C	c.(616-618)aAa>aCa	p.K206T	MFNG_ENST00000416983.3_Missense_Mutation_p.K192T	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	206					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAAAGCCAGTTTGCGATTGAT	0.622000													15	40					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172007579	172007579	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:172007579A>G	ENST00000358155.4	+	7	1146	c.970A>G	c.(970-972)Agg>Ggg	p.R324G	DNM3_ENST00000367733.2_Missense_Mutation_p.R324G|DNM3_ENST00000355305.5_Missense_Mutation_p.R324G|DNM3_ENST00000367731.1_Missense_Mutation_p.R324G|DNM3_ENST00000520906.1_Missense_Mutation_p.R324G	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	324					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGACCCAACAAGGAAGACCAA	0.403000													19	121					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661474	77661474	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77661474G>A	ENST00000296043.6	+	5	3101	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	716					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGCCATCTGGACCGGCAGG	0.672000													35	99					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65308743	65308743	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65308743T>C	ENST00000301873.5	-	20	3015	c.2747A>G	c.(2746-2748)aAg>aGg	p.K916R	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.K542R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K346R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K916R|LTBP3_ENST00000529189.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	916						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACTCCTTCTTGTGGTGGGG	0.632000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	111					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798797	57798797	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57798797G>A	ENST00000302622.3	+	1	396	c.373G>A	c.(373-375)Gat>Aat	p.D125N	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CATGGCCTATGATCGTTATGT	0.517000													63	42					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48149508	48149508	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:48149508G>A	ENST00000311303.3	-	13	2152	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	ABCC12_ENST00000416054.1_Silent_p.T578T|ABCC12_ENST00000448542.1_Missense_Mutation_p.L603F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	603	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCCCCAGAGAGGTTGAGGCCC	0.627000													24	0					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483127	102483127	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102483127C>T	ENST00000360184.4	+	38	7803	c.7639C>T	c.(7639-7641)Ccg>Tcg	p.P2547S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2547					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAATGGTCTCCGTGGCAGGC	0.582000													7	27					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95189878	95189878	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95189878C>T	ENST00000027335.3	-	4	346	c.222G>A	c.(220-222)cgG>cgA	p.R74R	CDH17_ENST00000441892.2_Silent_p.R74R|CDH17_ENST00000450165.2_Silent_p.R74R	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	74	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAAGTCCCTCCCGTTCTATCA	0.428000													40	55					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150527983	150527983	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150527983A>G	ENST00000271643.4	+	8	1549	c.1313A>G	c.(1312-1314)cAg>cGg	p.Q438R	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.Q438R|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.Q461R|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.Q438R	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	438					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAAAAGGTCCAGGATGGGACC	0.587000													11	44					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50107964	50107964	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50107964A>G	ENST00000443081.1	+	19	3618	c.2699A>G	c.(2698-2700)aAg>aGg	p.K900R	RBM6_ENST00000442092.1_Missense_Mutation_p.K510R|RBM6_ENST00000421682.1_Missense_Mutation_p.S19G|RBM6_ENST00000266022.4_Missense_Mutation_p.K1032R|RBM6_ENST00000422955.1_Missense_Mutation_p.K510R|RBM6_ENST00000539992.1_Missense_Mutation_p.K374R			P78332	RBM6_HUMAN	RNA binding motif protein 6	1032					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAACGGATTAAGTACTCCAGG	0.458000													10	79					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127710419	127710419	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:127710419C>T	ENST00000508053.1	-	21	2971	c.1997G>A	c.(1996-1998)gGa>gAa	p.G666E	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.G666E|FBN2_ENST00000508989.1_Missense_Mutation_p.G633E			P35556	FBN2_HUMAN	fibrillin 2	666	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGCAGATTCCTGGGGTCTG	0.522000													12	19					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118267125	118267125	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:118267125G>A	ENST00000252108.3	+	20	3302	c.3171G>A	c.(3169-3171)gaG>gaA	p.E1057E	UBE4A_ENST00000431736.2_Silent_p.E1064E|UBE4A_ENST00000545354.1_Silent_p.E529E	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1057					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.E1064D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTTGCAGAGAGGAAACAAC	0.438000													47	5					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56172554	56172554	+	Splice_Site	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56172554A>T	ENST00000450554.2	+	5	1444	c.486_splice	c.e5+1	p.E162_splice	U2AF2_ENST00000308924.4_Splice_Site_p.E162_splice	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	162	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGCATCACTGAGGTActgccc	0.647000													4	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642648	179642648	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179642648C>T	ENST00000589042.1	-	25	4487	c.4263G>A	c.(4261-4263)cgG>cgA	p.R1421R	TTN_ENST00000342175.6_Silent_p.R1375R|TTN_ENST00000460472.2_Silent_p.R1375R|TTN_ENST00000359218.5_Silent_p.R1375R|TTN_ENST00000591111.1_Silent_p.R1421R|TTN_ENST00000360870.5_Silent_p.R1421R|TTN_ENST00000342992.6_Silent_p.R1421R|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1421	ZIS5.						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)			CAGGTGACATCCGTGCAGGAG	0.498000													23	10					0	0	1	0	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013832	33013832	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:33013832A>C	ENST00000567619.1	-	0	499																											GAGGTGAAGAAGCCTGGGGCC	0.602000													19	76					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9319589	9319589	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:9319589G>A	ENST00000378501.2	+	4	289	c.274G>A	c.(274-276)Gat>Aat	p.D92N	PLCB4_ENST00000378473.3_Missense_Mutation_p.D92N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.D92N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D92N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D92N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D92N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	92					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATCAGAAAATGATCTGGAAGG	0.403000													41	65					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768462	51768462	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51768462C>T	ENST00000371117.3	-	43	7204	c.6929G>A	c.(6928-6930)gGa>gAa	p.G2310E	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2310E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2310					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)					ATTGGAGAGTCCCTCGGCACC	0.433000													48	72					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115759741	115759741	+	RNA	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:115759741A>G	ENST00000427548.1	-	0	2072							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CATTCTTTACAAACATAGGGC	0.388000													45	22					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47085787	47085787	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:47085787A>C	ENST00000457458.2	+	9	1340	c.920A>C	c.(919-921)aAg>aCg	p.K307T	CDK16_ENST00000276052.6_Missense_Mutation_p.K375T|CDK16_ENST00000518022.1_Missense_Mutation_p.K301T|CDK16_ENST00000357227.4_Missense_Mutation_p.K301T	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	301	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GGAGAGCTCAAGCTGGCTGAC	0.582000													3	17					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124383	142124383	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142124383A>C	ENST00000390376.2	-	0	94																											TCCTGTCTTCAGGATGTGGAA	0.522000													12	80					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143292996	143292996	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:143292996C>T	ENST00000316549.6	-	8	1142	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	312					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGCCGGTTTCCAGCATCGGG	0.498000													7	40					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131976412	131976412	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131976412C>T	ENST00000378823.3	+	24	4068	c.3250C>T	c.(3250-3252)Ctc>Ttc	p.L1084F	RAD50_ENST00000265335.6_Missense_Mutation_p.L1223F|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000457489.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1223					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACGTTCTGCCTCAACTGTGG	0.478000								Homologous recombination					32	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604713	179604713	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179604713G>A	ENST00000589042.1	-	48	13471	c.13247C>T	c.(13246-13248)tCt>tTt	p.S4416F	TTN_ENST00000342175.6_Missense_Mutation_p.S4245F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S4053F|TTN_ENST00000359218.5_Missense_Mutation_p.S4178F|TTN_ENST00000591111.1_Missense_Mutation_p.S4099F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4099	Ig-like 24.						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)			TAGCCACTCAGAGAAAAGACC	0.478000													22	50					0	0	1	0	0
SMN1	6606	broad.mit.edu	37	5	70247809	70247809	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:70247809C>T	ENST00000380707.4	+	8	950	c.876C>T	c.(874-876)tcC>tcT	p.S292S	SMN1_ENST00000514951.1_Silent_p.S225S|SMN1_ENST00000510679.1_3'UTR|SMN1_ENST00000351205.4_Silent_p.S260S|SMN1_ENST00000503079.2_Silent_p.S260S|SMN1_ENST00000506163.1_Intron	NM_000344.3	NP_000335.1			survival of motor neuron 1, telomeric														Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTCACATTCCTTAAATTAAG	0.289000													7	1					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267747	10267747	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10267747G>A	ENST00000418404.3	-	2	264	c.101C>T	c.(100-102)tCc>tTc	p.S34F	MYH13_ENST00000252172.4_Missense_Mutation_p.S34F|MYH13_ENST00000570743.1_Missense_Mutation_p.S34F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	34	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCTTTCTTGGAATCGAATGG	0.458000													5	13					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806651	27806651	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:27806651T>C	ENST00000606613.1	+	1	273	c.212T>C	c.(211-213)tTc>tCc	p.F71S	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71S			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607000													123	125					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8994108	8994108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:8994108G>A	ENST00000299698.7	+	11	1404	c.1224G>A	c.(1222-1224)tgG>tgA	p.W408*		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	252						extracellular space	endopeptidase inhibitor activity	p.W408C(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATCCGGTTGGAATGGGACAG	0.473000													20	38					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92346123	92346123	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:92346123A>C	ENST00000377067.3	+	3	1380	c.1008A>C	c.(1006-1008)aaA>aaC	p.K336N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	336						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATGGACAAAAATTATTGGAAC	0.393000													13	36					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226035	183226035	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183226035T>C	ENST00000341319.3	-	3	756	c.721A>G	c.(721-723)Agc>Ggc	p.S241G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	241	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGGACCCAGCTCATCACGGTC	0.552000													26	136					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74078123	74078123	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74078123T>C	ENST00000334586.5	+	8	1124	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	347					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GGCCTCATCCTGCTGAAGGTG	0.697000													5	13					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30097515	30097515	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:30097515G>A	ENST00000380752.5	-	7	1323	c.937C>T	c.(937-939)Ccc>Tcc	p.P313S		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	313					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAAGTAGGGCATCATGAGC	0.622000													45	38					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876302	18876302	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18876302C>T	ENST00000447925.2	-	4	573	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E104K|RP11-361I14.2_ENST00000536931.1_RNA	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	104					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTACTCATCTCAGCTGCATAT	0.323000													10	4					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618406	156618406	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156618406A>C	ENST00000329117.4	+	6	1152	c.816A>C	c.(814-816)gaA>gaC	p.E272D	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E272D	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	272	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATTGGAGGAAGCACGGGCGT	0.617000													18	96					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27425379	27425379	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:27425379T>C	ENST00000527372.1	-	24	4045	c.3865A>G	c.(3865-3867)Agc>Ggc	p.S1289G	MYO18A_ENST00000354329.4_Missense_Mutation_p.S1289G|MYO18A_ENST00000533112.1_Missense_Mutation_p.S1289G|MYO18A_ENST00000531253.1_Missense_Mutation_p.S1289G	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1289					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCACCCGGCTCTCCAGCCGG	0.647000													17	50					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719185	50719185	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50719185A>C	ENST00000449103.1	-	24	4121	c.3981T>G	c.(3979-3981)tcT>tcG	p.S1327S	PLXNB2_ENST00000359337.4_Silent_p.S1327S			O15031	PLXB2_HUMAN	plexin B2	1327					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGATGAGGAAAGACTTGCTGT	0.652000													4	24					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169024	32169024	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32169024C>T	ENST00000375023.3	-	22	4147	c.4009G>A	c.(4009-4011)Gac>Aac	p.D1337N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1337					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1337N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TACACCATGTCCCTGCCATCA	0.627000													40	33					0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58552340	58552340	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:58552340A>G	ENST00000394481.1	-	5	968	c.410T>C	c.(409-411)cTg>cCg	p.L137P	FAM107A_ENST00000360997.2_Missense_Mutation_p.L137P|FAM107A_ENST00000474531.1_Missense_Mutation_p.L168P|FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000447756.2_Missense_Mutation_p.L165P	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	137					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TTCGCTGGTCAGTGTGGCAAT	0.587000													4	109					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409494	47409494	+	Silent	SNP	C	C	T	rs140854817		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:47409494C>T	ENST00000378688.4	-	3	1025	c.894G>A	c.(892-894)tcG>tcA	p.S298S	HTR2A_ENST00000542664.1_Silent_p.S298S|HTR2A_ENST00000543956.1_Silent_p.S214S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	298					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCCTATGGATCGACCGCTGGA	0.507000													17	19					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184790	69184790	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:69184790A>T	ENST00000563094.1	+	8	1019	c.985A>T	c.(985-987)Aaa>Taa	p.K329*	CIRH1A_ENST00000314423.7_Nonsense_Mutation_p.K329*|CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.K329*			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	329						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGCTCTCCGAAAAATCACCTT	0.537000													14	25					0	0	1	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702778	40702778	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:40702778T>C	ENST00000356699.5	+	4	464	c.435T>C	c.(433-435)gcT>gcC	p.A145A	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		TGGAAGATGCTGCTCCCATTC	0.592000													43	287					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868880	51868880	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:51868880G>A	ENST00000453097.2	+	16	2279	c.2062G>A	c.(2062-2064)Gga>Aga	p.G688R	SLC4A8_ENST00000394856.1_Missense_Mutation_p.G635R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G635R|SLC4A8_ENST00000358657.3_Missense_Mutation_p.G715R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	688					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CGGCCATCATGGACCCTACAC	0.468000													37	1					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909216	909216	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:909216C>T	ENST00000379409.2	+	13	1624	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.L445F|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.L480F			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	532										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTGCAGTTCCTCAGTGCCAT	0.677000													27	13					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55251726	55251726	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55251726G>A	ENST00000371276.4	-	5	1053	c.950C>T	c.(949-951)aCc>aTc	p.T317I	TTC22_ENST00000371274.4_Missense_Mutation_p.T317I	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	317							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CATGTTGCAGGTTCCAATGGC	0.532000													33	33					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250669	43250669	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43250669G>A	ENST00000259750.4	+	14	2274	c.2191G>A	c.(2191-2193)Ggg>Agg	p.G731R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	731						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCAGGCTAATGGGAaggagga	0.587000													26	22					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83711867	83711867	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:83711867G>A	ENST00000566620.1	+	10	1629	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	CDH13_ENST00000268613.10_Missense_Mutation_p.E494K|CDH13_ENST00000428848.3_Missense_Mutation_p.E408K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	447	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGTGGAAAATGAAGACCCACT	0.542000													27	3					0	0	1	0	0
MIR633	693218	broad.mit.edu	37	17	61021670	61021670	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:61021670G>A	ENST00000582505.1	-	0	354				MIR633_ENST00000384821.1_RNA																							ttgttgtgaggataaaaaaaa	0.274000													5	5					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225729	9225729	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9225729T>C	ENST00000328194.3	-	4	747	c.427A>G	c.(427-429)Agc>Ggc	p.S143G	DENND5A_ENST00000530044.1_Missense_Mutation_p.S143G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	143										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCTGCTTGCTAGTCACCTCT	0.512000													13	42					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123377163	123377163	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123377163C>T	ENST00000275162.4	+	5	2223	c.888C>T	c.(886-888)tcC>tcT	p.S296S	CLVS2_ENST00000368438.1_Silent_p.S150S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	296					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						CCCCAAAGTCCATGAAGAGGT	0.493000													12	1					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300567	110300567	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110300567A>G	ENST00000414000.2	+	3	536	c.297A>G	c.(295-297)acA>acG	p.T99T	GPR6_ENST00000275169.3_Silent_p.T84T			P46095	GPR6_HUMAN	G protein-coupled receptor 6	84						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGTCGGGGACAGTGATCGCTG	0.677000													36	91					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160122251	160122251	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:160122251C>T	ENST00000357388.3	+	5	1097	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	SMC4_ENST00000360111.2_Missense_Mutation_p.H216Y|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000469762.1_Missense_Mutation_p.H191Y|SMC4_ENST00000344722.5_Missense_Mutation_p.H216Y|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.H216Y	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	216					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTTCGAAGCCATGGAATTGA	0.308000													34	1					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33136832	33136832	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:33136832A>C	ENST00000375030.2	+	19	1984	c.1366A>C	c.(1366-1368)Agg>Cgg	p.R456R	C10orf68_ENST00000375025.4_Silent_p.R561R|C10orf68_ENST00000375028.3_Silent_p.R501R			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	497										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACACAACTAAGGACTCACTA	0.308000													11	63					0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116660854	116660854	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116660854C>T	ENST00000542499.1	-	4	1163	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	APOA5_ENST00000227665.4_Missense_Mutation_p.G364E	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	364					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCAGGGGTCCCCCAGATGGCT	0.592000													16	1					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825484	21825484	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21825484G>A	ENST00000426869.3	+	0	188					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		gccaggacctgaaatgggccg	0.657000													28	68					0	0	1	0	0
SNORD114-29	767610	broad.mit.edu	37	14	101456427	101456427	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:101456427C>T	ENST00000364819.1	+	0	0					NR_003222.1																						AGGGCCAATCCTGGATCGATG	0.338000													25	81					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141035196	141035196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:141035196G>A	ENST00000239440.4	-	31	4167	c.4102C>T	c.(4102-4104)Cag>Tag	p.Q1368*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q1030*|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q1199*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1368					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACCAGGGTCTGATTGGCAGAG	0.592000													15	21					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108856	2108856	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2108856G>A	ENST00000406869.1	-	12	1748	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	MAD1L1_ENST00000402746.1_Silent_p.L305L|MAD1L1_ENST00000265854.7_Silent_p.L397L|MAD1L1_ENST00000399654.2_Silent_p.L397L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	397	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCCGTTTCTGGAGCCTCCGGG	0.632000													64	74					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209782	140209782	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140209782C>T	ENST00000529310.1	+	1	2220	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATCATCGCCATCTGCG	0.687000													40	44					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328215	80328215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:80328215C>T	ENST00000281127.7	+	6	2086	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	NRXN3_ENST00000557594.1_Nonsense_Mutation_p.Q608*|NRXN3_ENST00000335750.5_Nonsense_Mutation_p.Q1032*|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.Q430*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.Q1032*	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	608					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAACTCCGCCCAGAGCAACGG	0.527000													13	17					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19363311	19363311	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:19363311T>C	ENST00000263208.5	-	15	1874	c.1618A>G	c.(1618-1620)Aat>Gat	p.N540D	HIRA_ENST00000340170.4_Missense_Mutation_p.N540D|HIRA_ENST00000541063.1_Missense_Mutation_p.N496D|HIRA_ENST00000546308.1_Missense_Mutation_p.N496D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	540	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GAGGTAGCATTCATACTGGGG	0.493000													10	28					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232664	56232664	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56232664T>G	ENST00000268912.5	+	1	171	c.150T>G	c.(148-150)acT>acG	p.T50T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCACAGTGACTTTTGACTGCC	0.473000													16	150					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227480	38227480	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38227480G>A	ENST00000373048.4	-	3	446	c.447C>T	c.(445-447)ccC>ccT	p.P149P	EPHA10_ENST00000427468.2_Silent_p.P149P|EPHA10_ENST00000319637.6_Silent_p.P149P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	149						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATTTTGCGGGGCCGGCTGC	0.667000													14	83					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63468164	63468164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:63468164C>T	ENST00000322893.7	-	4	586	c.318G>A	c.(316-318)tgG>tgA	p.W106*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.W48*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.W106*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.W48*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	106	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCATATAAAACCAAACAGGGG	0.433000													16	19					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484002	150484002	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150484002A>G	ENST00000369047.4	+	7	903	c.778A>G	c.(778-780)Acg>Gcg	p.T260A	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.T287A|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	260	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGGTGCTGCACGCGGCAGGG	0.622000													21	76					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36184041	36184041	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:36184041T>G	ENST00000274254.5	+	10	1435	c.1161T>G	c.(1159-1161)ttT>ttG	p.F387L	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAGCTATTTTGCCAACATG	0.358000													4	63					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67932802	67932802	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:67932802C>T	ENST00000374599.3	+	3	241	c.126C>T	c.(124-126)ttC>ttT	p.F42F	STARD8_ENST00000374597.3_5'UTR|STARD8_ENST00000252336.6_5'UTR	NM_001142503.2	NP_001135975.1	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAACAGGATTCCCTCAGTATG	0.478000													7	0					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104667	168104667	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168104667G>A	ENST00000409195.1	+	9	6854	c.6765G>A	c.(6763-6765)atG>atA	p.M2255I	XIRP2_ENST00000409273.1_Missense_Mutation_p.M2033I|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2255I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2080					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						ACTTTCTAATGAAAACAAATA	0.373000													32	20					0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724400	217724400	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:217724400G>A	ENST00000236979.2	-	2	187	c.158C>T	c.(157-159)tCc>tTc	p.S53F	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	53					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACAAGTGGGAGCGGTAATT	0.522000													33	97					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32138336	32138336	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32138336T>G	ENST00000373672.3	-	45	3481	c.2965A>C	c.(2965-2967)Aac>Cac	p.N989H	COL16A1_ENST00000271069.6_Missense_Mutation_p.N989H	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	989	Nonhelical region 3 (NC3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGGCGCAGTTGTCGAGGCCT	0.642000													23	146					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34254204	34254204	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34254204C>T	ENST00000373381.4	-	12	1836	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CSMD2_ENST00000338325.1_Missense_Mutation_p.E162K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	514	Sushi 3.					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)				CAGTTACCTTCATAAGAAGCC	0.458000													29	49					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118181	120118181	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:120118181C>T	ENST00000332843.2	+	6	626	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	195	C-type lectin.					collagen|cytoplasm	mannose binding	p.I195M(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			ACACACTCATCGCTGACTATG	0.517000													26	35					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43023314	43023314	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:43023314T>G	ENST00000361740.4	-	7	727	c.728A>C	c.(727-729)aAc>aCc	p.N243T	CYB5R3_ENST00000402438.1_Missense_Mutation_p.N187T|CYB5R3_ENST00000352397.5_Missense_Mutation_p.N210T|CYB5R3_ENST00000407623.3_Missense_Mutation_p.N187T|CYB5R3_ENST00000396303.3_Missense_Mutation_p.N187T|CYB5R3_ENST00000407332.1_Missense_Mutation_p.N187T	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	210					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACTGACCTGGTTGGCAAAGAG	0.607000													6	29					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310465	24310465	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:24310465T>G	ENST00000357002.4	+	4	1778	c.1663T>G	c.(1663-1665)Ttt>Gtt	p.F555V	ZNF254_ENST00000342944.6_Missense_Mutation_p.F470V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	555					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGCAAAGCCTTTAAGCAGTC	0.363000													5	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664256	179664256	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179664256G>A	ENST00000589042.1	-	6	1096	c.872C>T	c.(871-873)tCc>tTc	p.S291F	TTN_ENST00000342175.6_Missense_Mutation_p.S291F|TTN_ENST00000460472.2_Missense_Mutation_p.S291F|TTN_ENST00000359218.5_Missense_Mutation_p.S291F|TTN_ENST00000591111.1_Missense_Mutation_p.S291F|TTN_ENST00000360870.5_Missense_Mutation_p.S291F|TTN_ENST00000342992.6_Missense_Mutation_p.S291F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	291	ZIS1.						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)			TCTGACCGGGGAAGGGGAGTG	0.557000													16	22					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533009	22533009	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:22533009A>C	ENST00000404369.4	-	3	946	c.531T>G	c.(529-531)atT>atG	p.I177M	STEAP1B_ENST00000406890.2_Missense_Mutation_p.I158M	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	158						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						ACAGAGTATAAATTGCATGCA	0.383000													9	34					0	0	1	0	0
WDR38	401551	broad.mit.edu	37	9	127619030	127619030	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127619030A>C	ENST00000373574.1	+	7	694	c.638A>C	c.(637-639)aAg>aCg	p.K213T		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	213										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCTGGGACAAGACCATCCAC	0.602000													5	24					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88883128	88883128	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88883128A>C	ENST00000556553.1	+	5	775	c.216A>C	c.(214-216)aaA>aaC	p.K72N	SPATA7_ENST00000356583.5_Missense_Mutation_p.K72N|SPATA7_ENST00000045347.7_Missense_Mutation_p.K104N|SPATA7_ENST00000393545.4_Missense_Mutation_p.K104N			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	104					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AATTAACTAAAACTGCAATGC	0.279000													8	30					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205812794	205812794	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205812794C>T	ENST00000367136.4	-	6	872		c.e6+1		PM20D1_ENST00000460624.1_Splice_Site	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1							extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGTTGCTTACCGGCTGACAG	0.512000													16	64					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115018	119115018	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:119115018G>A	ENST00000328252.3	+	16	4367	c.3998G>A	c.(3997-3999)gGg>gAg	p.G1333E	PAPPA_ENST00000534838.1_Missense_Mutation_p.G371E	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1333	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGGAGGATGGGCTGTGGTCC	0.582000													35	27					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22473546	22473546	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22473546T>C	ENST00000308511.4	+	14	1879	c.1630T>C	c.(1630-1632)Ttt>Ctt	p.F544L	KIAA1967_ENST00000389279.3_Missense_Mutation_p.F544L|KIAA1967_ENST00000520861.1_Missense_Mutation_p.F219L|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	K1967_HUMAN		544					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGCCGAGCTGTTTCTGGAGAT	0.542000													10	76					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59925255	59925255	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:59925255A>G	ENST00000256858.6	+	14	2219	c.1971A>G	c.(1969-1971)agA>agG	p.R657R	KIAA1468_ENST00000398130.2_Silent_p.R657R			Q9P260	K1468_HUMAN	KIAA1468	657							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTGGTAAGAGAAGCTGTTA	0.328000													11	18					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202864777	202864777	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202864777G>A	ENST00000367261.3	-	8	1226	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	KLHL12_ENST00000435533.3_Silent_p.G374G|KLHL12_ENST00000367259.1_Silent_p.G69G	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	336					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCCATCATAGCCACCAATGA	0.507000													18	28					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725099	66725099	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:66725099C>T	ENST00000247815.4	+	12	2895	c.2836C>T	c.(2836-2838)Cgt>Tgt	p.R946C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	946					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAGAAAAACTCGTTTGAAACA	0.527000													38	1					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185520	127185520	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:127185520G>A	ENST00000371124.3	-	1	862	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	222						cytoplasm|cytoskeleton		p.I222M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCTCCAAGGCGATGTAGCACA	0.527000													87	4					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227625	35227625	+	Missense_Mutation	SNP	C	C	T	rs148656277		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35227625C>T	ENST00000339480.1	+	2	1140	c.770C>T	c.(769-771)tCg>tTg	p.S257L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	257					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AAGGCTGGGTCGGCCCCAGTG	0.597000													27	11					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241907749	241907749	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:241907749T>G	ENST00000366552.2	+	12	1702	c.1495T>G	c.(1495-1497)Ttc>Gtc	p.F499V	WDR64_ENST00000437684.2_Missense_Mutation_p.F499V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	499										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACCTCATGGTTTCAATACTGA	0.438000													14	55					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260208	134260208	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:134260208G>A	ENST00000457545.2	+	7	810	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	AKR1B15_ENST00000423958.1_Missense_Mutation_p.A156T	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	184							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCTGGTGAAAGCCCTTGGGGT	0.488000													33	44					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29041282	29041282	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29041282T>G	ENST00000373816.1	+	10	1827	c.1689T>G	c.(1687-1689)gaT>gaG	p.D563E	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.D563E|GMEB1_ENST00000294409.2_Missense_Mutation_p.D573E	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTAGAGGATTAACTGGGGA	0.408000													16	70					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153910274	153910274	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153910274A>C	ENST00000361217.4	-	14	2449	c.2031T>G	c.(2029-2031)agT>agG	p.S677R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	677										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTGAGCTCACTTCCTGACA	0.532000													23	146					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941263	13941263	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13941263A>G	ENST00000254323.2	+	13	2558	c.2369A>G	c.(2368-2370)cAg>cGg	p.Q790R	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.Q624R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	790							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCGGCCTACCAGATCGTGCTG	0.687000													27	140					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8475376	8475376	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:8475376C>T	ENST00000405863.1	+	2	944	c.33C>T	c.(31-33)ctC>ctT	p.L11L	NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	11						extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGCTTTTCCTCCTGCAGCCCA	0.557000													58	63					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762012	130762012	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:130762012G>A	ENST00000392429.1	+	2	2823	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	TMEM200A_ENST00000296978.3_Missense_Mutation_p.E149K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.E149K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	149						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CATTCTTCATGAAAACCGTGA	0.393000													40	3					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177735	146177735	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:146177735A>C	ENST00000497985.1	-	4	615	c.176T>G	c.(175-177)aTt>aGt	p.I59S	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	108					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTGAACAGGAATGCCAGCTGT	0.557000													8	63					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169509958	169509958	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:169509958G>A	ENST00000367796.3	-	13	4586	c.4385C>T	c.(4384-4386)cCt>cTt	p.P1462L	F5_ENST00000367797.3_Missense_Mutation_p.P1457L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1457	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGGTCTGGAGGAGGTGATAT	0.473000													40	54					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16793317	16793317	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16793317T>A	ENST00000187762.2	+	4	643	c.552T>A	c.(550-552)tcT>tcA	p.S184S		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	184						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGCACATGTCTTTGTGAGTAT	0.567000													4	56					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307279	102307279	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:102307279G>A	ENST00000369138.1	+	10	1925	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	GRIK2_ENST00000318991.6_Missense_Mutation_p.E479K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E479K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E430K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E479K|GRIK2_ENST00000421544.1_Missense_Mutation_p.E479K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	479					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)	CTTTACATATGAAATTAGACT	0.388000													26	1					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84996295	84996295	+	Missense_Mutation	SNP	G	G	A	rs148579957		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:84996295G>A	ENST00000376104.2	-	4	466	c.155C>T	c.(154-156)cCg>cTg	p.P52L	DLG2_ENST00000543673.1_Missense_Mutation_p.P52L	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCATGGCACGGAGCAAGAAG	0.378000													53	8					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864524	131864524	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:131864524C>T	ENST00000359827.3	-	20	4758	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1266K			Q9HCM2	PLXA4_HUMAN	plexin A4	1266						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGTCACTTTCGCGGGACTTG	0.612000													23	30					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48629525	48629525	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48629525C>T	ENST00000006658.6	+	14	2061	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Silent_p.P631P|SPATA20_ENST00000393244.3_Silent_p.P587P	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	631					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTGGCCTGCCCCTGCGTCTGA	0.652000													11	16					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11565153	11565153	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:11565153T>G	ENST00000304623.8	-	3	379	c.190A>C	c.(190-192)Agg>Cgg	p.R64R	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000359640.2_Silent_p.R64R|CTNND2_ENST00000503622.1_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	64					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGGGTCAGCCTTTCAAACTGT	0.498000													9	47					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47463691	47463691	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:47463691G>A	ENST00000285039.7	-	15	2128	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	610	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCTGATCTTCGAAGATGACCC	0.532000													37	3					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50169104C>T	ENST00000246785.3	+	1	282	c.24C>T	c.(22-24)ttC>ttT	p.F8F	BCL2L12_ENST00000246784.3_Silent_p.F8F|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000377139.3_5'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000													43	51					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48325381	48325381	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:48325381A>G	ENST00000376876.3	-	4	1056	c.213T>C	c.(211-213)taT>taC	p.Y71Y	SLC38A5_ENST00000317669.5_Silent_p.Y71Y|SLC38A5_ENST00000376875.1_Silent_p.Y20Y			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	71					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GGGCCATGGCATAGGCCAGCC	0.622000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8523525	8523525	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:8523525C>T	ENST00000381196.4	-	16	1223		c.e16-1		PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTCGCAGCTCTGAGGGATGT	0.373000										TSP Lung(15;0.13)			6	18					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105169003	105169003	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105169003G>A	ENST00000428173.2	+	19	3598	c.3295G>A	c.(3295-3297)Gac>Aac	p.D1099N	NRK_ENST00000243300.9_Missense_Mutation_p.D1098N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1098							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1099Y(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCGTCTCAGGACTTTGAATA	0.453000										HNSCC(51;0.14)			44	4					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867202	5867202	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5867202A>C	ENST00000252675.5	-	5	1097	c.535T>G	c.(535-537)Ttc>Gtc	p.F179V	FUT5_ENST00000588525.1_Missense_Mutation_p.F179V			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	179					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TAGGGCGTGAAGATGTCGGAG	0.647000													14	51					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28381074	28381074	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:28381074G>A	ENST00000394835.3	+	10	2294	c.2102G>A	c.(2101-2103)aGg>aAg	p.R701K	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R701K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R701K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R701K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R358K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R645K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	701							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGGAAAAGAGGTCTTGGGAA	0.378000													8	0					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256868	63256868	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:63256868G>A	ENST00000323865.3	-	1	912	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	227					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACCGTCTTGCGGATGCGGAAG	0.582000													34	43					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131073123	131073123	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131073123T>G	ENST00000357668.1	-	27	2921	c.2894A>C	c.(2893-2895)aAa>aCa	p.K965T	ASAP1_ENST00000518721.1_Missense_Mutation_p.K965T			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	965	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGCTGTGGTTTGGGGGGCAG	0.602000													8	184					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485738	31485738	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31485738C>T	ENST00000394863.3	+	6	611	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	TGFB1I1_ENST00000361773.3_Silent_p.L144L|TGFB1I1_ENST00000394858.2_Silent_p.L144L|TGFB1I1_ENST00000567607.1_Silent_p.L144L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	161	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCTGGATAGACTGATGGCCTC	0.562000													25	41					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68938160	68938160	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:68938160C>T	ENST00000356291.2	-	5	454	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	132	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGATGGGTATCGAAATATGAG	0.303000													9	28					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039057	11039057	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:11039057C>T	ENST00000470054.1	-	0	1146									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCCATCAATCCAGTAGAAAG	0.393000													19	296					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28844889	28844889	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:28844889C>T	ENST00000399613.1	+	12	1307	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	PAN3_ENST00000380958.3_Missense_Mutation_p.S615F|PAN3_ENST00000282391.5_Missense_Mutation_p.S303F			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	615	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTGCCAGAATCTCTTATTTGG	0.403000													21	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072287	9072287	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9072287G>A	ENST00000397910.4	-	3	15362	c.15159C>T	c.(15157-15159)tcC>tcT	p.S5053S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5055	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						AAGAAATCAGGGAAGGTGTGG	0.478000													25	42					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157488244	157488244	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157488244G>A	ENST00000361835.3	-	15	2944	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.I929I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	929						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCTCTTGGATGATCCGTACTT	0.428000													56	54					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65006922	65006922	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:65006922A>G	ENST00000394156.3	-	9	1728	c.1275T>C	c.(1273-1275)acT>acC	p.T425T	CDH11_ENST00000566827.1_Silent_p.T299T|CDH11_ENST00000268603.4_Silent_p.T425T			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	425	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTCGAGGTCAGTGTGACGAT	0.383000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			12	17					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17502560	17502560	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:17502560C>T	ENST00000380647.3	+	26	4215	c.4131C>T	c.(4129-4131)gcC>gcT	p.A1377A	CNTLN_ENST00000425824.1_Silent_p.A1377A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	0						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTCCTTTTGCCTCATATTTAC	0.234000													3	4					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099258	44099258	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:44099258G>A	ENST00000272286.2	+	7	1198	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	370					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGATCTTGACGAGGACACCTG	0.557000													28	73					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107049075	107049075	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107049075C>T	ENST00000390627.2	-	0	266																											CATGAATCACCTTTTAAAATA	0.443000													70	93					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587931	68587931	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:68587931G>T	ENST00000478136.1	+	4	774	c.284G>T	c.(283-285)tGg>tTg	p.W95L	FAM19A1_ENST00000496687.1_Missense_Mutation_p.W95L	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	95						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGGAAATGGTGGTGTGAGATG	0.468000													36	174					4.527e-37	4.57506e-37	1	1	0
PSAPL1	768239	broad.mit.edu	37	4	7435213	7435213	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:7435213T>C	ENST00000319098.4	-	1	1487	c.1394A>G	c.(1393-1395)aAg>aGg	p.K465R	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	465	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGCCCCCACCTTCTTGCACAC	0.637000													5	6					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127892155	127892155	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127892155A>G	ENST00000308868.4	+	2	135	c.84A>G	c.(82-84)caA>caG	p.Q28Q		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	28					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						AAAAAGTCCAAGATGACACCA	0.483000													14	207					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21868682	21868682	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:21868682G>A	ENST00000541639.1	-	26	4447	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F	KDM5D_ENST00000382806.2_Missense_Mutation_p.S1299F|KDM5D_ENST00000317961.4_Missense_Mutation_p.S1356F	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1356					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGTCTTACCAGAGCCCTTTCC	0.478000													43	2					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6942778	6942778	+	RNA	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6942778T>C	ENST00000251761.8	+	0	1268				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CCTGCAGCTCTCATCCCTGAG	0.582000													15	55					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955270	30955270	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30955270T>C	ENST00000376296.3	+	2	1559	c.1318T>C	c.(1318-1320)Tcc>Ccc	p.S440P	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	440	Ser-rich.					integral to membrane|plasma membrane		p.S440T(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAACTCTGGGTCCAGTGTGAC	0.577000													27	85					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155265516	155265516	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155265516C>T	ENST00000392414.3	-	3	335	c.222G>A	c.(220-222)aaG>aaA	p.K74K	PKLR_ENST00000342741.4_Silent_p.K105K	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	105					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TGATCATCTCCTTGAGGCGCT	0.612000													33	43					0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27182870	27182870	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:27182870T>A	ENST00000222726.3	-	1	417	c.357A>T	c.(355-357)aaA>aaT	p.K119N	HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	119					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TTAGGGAGTTTTTCCCGCCGT	0.721000													13	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088521	9088521	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9088521C>T	ENST00000397910.4	-	1	3497	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1098	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						ATTGGCTTGTCCTTCCTGGAG	0.433000													30	28					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797230	49797230	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49797230A>C	ENST00000454748.3	-	9	1673	c.1472T>G	c.(1471-1473)cTt>cGt	p.L491R	SLC6A16_ENST00000335875.4_Missense_Mutation_p.L491R			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	491						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGACGGAGGAAGGAAGGACAT	0.478000													6	91					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56395811	56395811	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:56395811G>A	ENST00000423270.1	-	5	458	c.459C>T	c.(457-459)atC>atT	p.I153I	RFX7_ENST00000317318.6_Silent_p.I153I|RFX7_ENST00000559447.2_Silent_p.I56I|RFX7_ENST00000422057.1_Silent_p.I56I	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	56					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGTTTTTCATGATCTTTCCAA	0.393000													4	1					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859504	189859504	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:189859504G>A	ENST00000304636.3	+	20	1572	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G468R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	468	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGCAAGGATGGATCACCTGG	0.443000													30	24					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913326	77913326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:77913326G>A	ENST00000321110.1	-	2	887	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	198							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGGAATTCCTGGGCATTTGAA	0.547000													14	17					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531940	50531940	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50531940C>T	ENST00000374144.3	+	3	1638	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	C10orf71_ENST00000323868.4_Silent_p.I450I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	450										endometrium(1)	1						TGACCCCCATCATACCCAGCA	0.532000													23	2					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30744600	30744600	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:30744600G>A	ENST00000262518.4	+	28	6512		c.e28-1		SRCAP_ENST00000344771.4_Splice_Site|SRCAP_ENST00000395059.2_Splice_Site	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein						interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TATCTCTTTAGGAAAGTTGCA	0.498000													18	46					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38187412	38187412	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38187412A>G	ENST00000373048.4	-	11	2065	c.2066T>C	c.(2065-2067)cTc>cCc	p.L689P	EPHA10_ENST00000427468.2_Missense_Mutation_p.L689P|EPHA10_ENST00000330210.7_Missense_Mutation_p.L184P|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	689	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGAAGCCGAGCCTCTGTGA	0.657000													14	34					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77723028	77723028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77723028C>T	ENST00000298351.4	+	24	2524	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	794						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGCCCAGTTCCAGGAAGGGCT	0.622000													47	63					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326873	85326873	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85326873C>T	ENST00000299927.3	+	1	989	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	ZNF592_ENST00000560079.2_Missense_Mutation_p.P323S			Q92610	ZN592_HUMAN	zinc finger protein 592	323					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAAGGTAGCCCCAAAATGCC	0.542000													26	61					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553810	140553810	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140553810G>A	ENST00000231137.3	+	1	1568	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		465	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACAACAGCCCCGCCCTG	0.612000													48	60					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86938513	86938513	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:86938513C>T	ENST00000395169.3	-	14	1869	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V	MAPK10_ENST00000359221.3_Silent_p.V421V|MAPK10_ENST00000361569.2_Silent_p.*423*|MAPK10_ENST00000395166.1_Silent_p.V383V|MAPK10_ENST00000395160.3_Silent_p.*278*|MAPK10_ENST00000395161.2_Silent_p.*423*|MAPK10_ENST00000449047.2_Silent_p.V276V|MAPK10_ENST00000395157.3_Silent_p.V276V	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	421					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CACTGCTGTTCACTGCTGCAC	0.498000													63	44					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188285	32188285	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32188285A>C	ENST00000375023.3	-	6	1194	c.1056T>G	c.(1054-1056)tgT>tgG	p.C352W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	352	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTTCTCCTCACAGCTTGTGC	0.622000													75	97					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38265336	38265336	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38265336A>G	ENST00000311806.3	+	7	1006	c.634A>G	c.(634-636)Agt>Ggt	p.S212G	OXSR1_ENST00000446845.1_Missense_Mutation_p.S212G	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	212	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGATATTTGGAGTTTTGGAAT	0.393000													15	33					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173835	7173835	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7173835T>G	ENST00000406697.1	+	11	1513	c.885T>G	c.(883-885)ccT>ccG	p.P295P	C1S_ENST00000360817.5_Silent_p.P295P|C1S_ENST00000402681.3_Silent_p.P128P|C1S_ENST00000328916.3_Silent_p.P295P			P09871	C1S_HUMAN	complement component 1, s subcomponent	295	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGCCCTGCCCTAAGGAAGACA	0.418000													17	40					0	0	1	0	0
PSMB6	5694	broad.mit.edu	37	17	4701345	4701345	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4701345C>T	ENST00000270586.3	+	5	525	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	158					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						TAAGGCAGTCCTTTGCCATTG	0.527000													57	79					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44952476	44952476	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:44952476A>C	ENST00000393461.2	+	3	397	c.344A>C	c.(343-345)gAg>gCg	p.E115A	WNT9B_ENST00000290015.2_Missense_Mutation_p.E115A			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	115					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGCTTCAAAGAGACAGCTTTC	0.647000													38	168					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35068327	35068327	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35068327A>C	ENST00000382002.5	-	9	1272	c.846T>G	c.(844-846)caT>caG	p.H282Q	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.H282Q|PRLR_ENST00000310101.5_Missense_Mutation_p.H282Q|PRLR_ENST00000511486.1_Missense_Mutation_p.H181Q|PRLR_ENST00000542609.1_Missense_Mutation_p.H282Q|PRLR_ENST00000231423.3_Missense_Mutation_p.H282Q|PRLR_ENST00000342362.5_Missense_Mutation_p.H181Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	282					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTCCAACAGATGAGCATCAA	0.428000													23	118					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6783525	6783525	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6783525G>A	ENST00000297436.2	-	1	73	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	11					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGGCCACGAGGAGAACAGCAG	0.592000													9	9					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216113	149216113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149216113C>T	ENST00000309241.5	+	8	2127	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.R699*|PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.R635*|PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.R660*	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	699					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGTGCTCCGACCAGAAGG	0.647000													18	25					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222114	10222114	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10222114T>G	ENST00000418404.3	-	26	3894	c.3731A>C	c.(3730-3732)aAg>aCg	p.K1244T	MYH13_ENST00000252172.4_Missense_Mutation_p.K1244T|MYH13_ENST00000570743.1_Missense_Mutation_p.K1244T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TACCTTTGACTTGGAGAGAGC	0.557000													14	71					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52794938	52794938	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52794938T>G	ENST00000233027.5	-	6	1038	c.836A>C	c.(835-837)aAt>aCt	p.N279T	NEK4_ENST00000535191.1_Missense_Mutation_p.N190T|NEK4_ENST00000383721.4_Missense_Mutation_p.N279T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	279					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTAATGTTATTTTTGGAGGT	0.348000													21	60					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52360843	52360843	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52360843A>G	ENST00000420323.2	+	5	935	c.674A>G	c.(673-675)cAc>cGc	p.H225R		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	225	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCTGGACCACCAGCACCCC	0.577000													8	19					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53810000	53810000	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53810000G>A	ENST00000288139.3	+	36	4468	c.4350G>A	c.(4348-4350)ggG>ggA	p.G1450G	CACNA1D_ENST00000540742.1_Silent_p.G322G|CACNA1D_ENST00000422281.2_Silent_p.G1415G|CACNA1D_ENST00000350061.5_Silent_p.G1430G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1430	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				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)	ACAACCCCGGGGAGGAGTATA	0.507000													94	63					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22239738	22239738	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:22239738T>C	ENST00000379374.4	+	18	2342	c.1777T>C	c.(1777-1779)Tat>Cat	p.Y593H	PHEX_ENST00000418858.3_Missense_Mutation_p.Y296H|PHEX_ENST00000537599.1_Missense_Mutation_p.Y593H|PHEX_ENST00000535894.1_Missense_Mutation_p.Y496H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	593					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AGGTAGAAAATATGATAAAAA	0.338000													24	0					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56572882	56572882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56572882G>A	ENST00000390649.3	+	15	3591	c.3591G>A	c.(3589-3591)tgG>tgA	p.W1197*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1197						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCGGTACTGGTGGAAAAACT	0.488000													96	50					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1384026	1384026	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1384026G>A	ENST00000359786.5	-	6	1105	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	MYO1C_ENST00000575158.1_Missense_Mutation_p.P226S|MYO1C_ENST00000438665.2_Missense_Mutation_p.P242S|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000361007.2_Missense_Mutation_p.P226S|MYO1C_ENST00000545534.2_Missense_Mutation_p.P237S	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	261	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TAGCTCTGGGGGTTCCGTTCC	0.632000													88	1					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539145	41539145	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41539145C>T	ENST00000400454.1	-	16	3495	c.3018_splice	c.e16+1	p.K1006_splice		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1006	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGAGTTTACCTTCCATGTGA	0.488000													25	37					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387931	41387931	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41387931G>A	ENST00000291764.3	-	1	726	c.185C>T	c.(184-186)tCc>tTc	p.S62F	CYP2A7_ENST00000301146.4_Intron|CTC-490E21.12_ENST00000601627.1_Intron	NM_030589.2	NP_085079.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	62						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTGCCTTGGGACACCTTCAT	0.587000													13	15					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144698764	144698764	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144698764A>C	ENST00000425753.2	-	2	222	c.119T>G	c.(118-120)tTt>tGt	p.F40C	TSTA3_ENST00000529064.1_Missense_Mutation_p.F40C	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	40					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	AGAGGAGACAAACACCCAGTC	0.572000													8	143					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963228	196963228	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196963228C>T	ENST00000367414.5	+	4	577	c.521C>T	c.(520-522)cCa>cTa	p.P174L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P150L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	150	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGTCATGTTCCAATTTTAGAA	0.299000													37	33					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272878	28272878	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28272878G>A	ENST00000305242.5	-	6	805	c.713C>T	c.(712-714)cCa>cTa	p.P238L	ARMC4_ENST00000239715.3_Missense_Mutation_p.P95L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	238							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTCCACGGTGGGGCTCGACA	0.418000													11	44					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48166630	48166630	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:48166630C>T	ENST00000244043.4	-	2	200	c.171G>A	c.(169-171)atG>atA	p.M57I	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	57					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GCTTCTCCTTCATCCTCGTGA	0.562000													33	35					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402775	90402775	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:90402775G>A	ENST00000369393.3	-	63	10089	c.9974C>T	c.(9973-9975)tCc>tTc	p.S3325F	MDN1_ENST00000428876.1_Missense_Mutation_p.S3325F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3325					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGAACCAGGGACTCGTAGGC	0.567000													22	3					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15993968	15993968	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:15993968A>G	ENST00000505450.1	-	16	2399	c.1787T>C	c.(1786-1788)cTt>cCt	p.L596P	PROM1_ENST00000539194.1_Missense_Mutation_p.L605P|PROM1_ENST00000543373.1_Missense_Mutation_p.L596P|PROM1_ENST00000447510.2_Missense_Mutation_p.L605P|PROM1_ENST00000540805.1_Missense_Mutation_p.L605P|PROM1_ENST00000508167.1_Missense_Mutation_p.L596P|PROM1_ENST00000510224.1_Missense_Mutation_p.L605P	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	605					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAAGATATTAAGATTTACCTT	0.388000													6	62					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668385	176668385	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176668385C>T	ENST00000367662.3	+	8	4060	c.2896C>T	c.(2896-2898)Ctc>Ttc	p.L966F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	966					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCCGACACCCTCACCCTGTG	0.577000													85	93					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44077616	44077616	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:44077616T>C	ENST00000378832.1	+	10	1222	c.1166T>C	c.(1165-1167)gTg>gCg	p.V389A		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	389							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGACCCATGTGATCTGGGGT	0.443000													12	44					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443642	5443642	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5443642C>T	ENST00000300778.4	+	1	302	c.212C>T	c.(211-213)aCg>aTg	p.T71M	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCCTGACGGACCTGGGT	0.532000													66	97					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36472829	36472829	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:36472829C>T	ENST00000378867.3	+	9	1011	c.656C>T	c.(655-657)tCt>tTt	p.S219F	PRR5L_ENST00000311599.5_Missense_Mutation_p.S146F|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.S219F	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	219										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CAAGTGGTTTCTCCTTTCCTC	0.532000													45	51					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100404244	100404244	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100404244T>G	ENST00000262233.6	+	20	2325	c.2186T>G	c.(2185-2187)gTt>gGt	p.V729G	EML1_ENST00000334192.4_Missense_Mutation_p.V748G|EML1_ENST00000327921.9_Missense_Mutation_p.V717G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	729						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGATTCCATGTTTTTGGTAAG	0.428000													21	66					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197431411	197431411	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197431411A>G	ENST00000273582.5	-	4	829		c.e4+1		KIAA0226_ENST00000467303.1_Splice_Site|KIAA0226_ENST00000389665.5_Splice_Site|KIAA0226_ENST00000449205.1_Splice_Site|KIAA0226_ENST00000296343.5_Splice_Site	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCCTCTACCTACCTGTGTAGA	0.542000													28	204					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24183665	24183665	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:24183665C>T	ENST00000303531.7	+	11	1466	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	PRKCB_ENST00000321728.7_Silent_p.F438F	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	438	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCGGCCGGTTCAAGGAGCCCC	0.502000													6	15					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506274	1506274	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1506274C>T	ENST00000330475.4	-	12	1599	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.G128E|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.E396K|ADAMTSL5_ENST00000590562.1_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	386	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCGGGTCTCCTGGGCCTGG	0.657000													7	50					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160667040	160667040	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160667040G>A	ENST00000263636.4	-	32	4723	c.4696C>T	c.(4696-4698)Cat>Tat	p.H1566Y	LY75_ENST00000554112.1_Missense_Mutation_p.H1566Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H1566Y|LY75_ENST00000553424.1_Missense_Mutation_p.H1566Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H1566Y	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		aaCTCACCATGTTTTGAACAC	0.318000													69	39					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870169	131870169	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:131870169T>C	ENST00000359827.3	-	16	4009	c.3047A>G	c.(3046-3048)gAg>gGg	p.E1016G	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1016G			Q9HCM2	PLXA4_HUMAN	plexin A4	1016	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCTTCATCTCTAGCACCTC	0.567000													7	75					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955077	33955077	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:33955077G>A	ENST00000389232.4	+	35	5416	c.5346G>A	c.(5344-5346)ggG>ggA	p.G1782G	RYR3_ENST00000415757.3_Silent_p.G1782G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1782	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGAGGCTGGGGAGAAGGCCG	0.572000													75	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583252	179583252	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179583252T>C	ENST00000589042.1	-	85	24805	c.24581A>G	c.(24580-24582)tAc>tGc	p.Y8194C	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Y7877C|TTN_ENST00000342992.6_Missense_Mutation_p.Y6950C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7877	Ig-like 64.						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)			TGTGCCAGTGTATGTGGCCTC	0.423000													22	10					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511019	56511019	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56511019G>A	ENST00000302957.3	-	1	268	c.269C>T	c.(268-270)tCt>tTt	p.S90F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S90Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTATACACAGAGGTATACCA	0.433000													47	63					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973730	10973730	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:10973730G>A	ENST00000304623.8	-	22	3702	c.3513C>T	c.(3511-3513)ttC>ttT	p.F1171F	CTNND2_ENST00000458100.2_Silent_p.F738F|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.F1080F|CTNND2_ENST00000359640.2_Silent_p.F1113F|CTNND2_ENST00000503622.1_Silent_p.F834F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1171					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCCTCGAAGAAGGACTCAT	0.537000													37	75					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269836	48269836	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48269836C>T	ENST00000225964.5	-	29	2101	c.1983_splice	c.e29+1	p.Q661_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	661	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCCCTCTTACCTGTTCACCAG	0.582000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						5	8					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45742854	45742854	+	Silent	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45742854C>A	ENST00000403390.1	+	16	1560	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	PFKL_ENST00000349048.4_Silent_p.P473P			P17858	K6PL_HUMAN	phosphofructokinase, liver	473					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGACCCTGCCCAAGGGCCAGC	0.587000													30	42					3.99451e-17	4.02671e-17	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77638818	77638818	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:77638818T>C	ENST00000407578.2	-	73	12870	c.12604A>G	c.(12604-12606)Acc>Gcc	p.T4202A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.T4164A|MYCBP2_ENST00000544440.2_Missense_Mutation_p.T4164A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATGATGGTTTCTGCAATA	0.373000													11	34					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20573317	20573317	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:20573317T>G	ENST00000399722.2	+	11	1878	c.1527T>G	c.(1525-1527)agT>agG	p.S509R	RBBP8_ENST00000399725.2_Missense_Mutation_p.S509R|RBBP8_ENST00000327155.5_Missense_Mutation_p.S509R|RBBP8_ENST00000360790.5_Missense_Mutation_p.S509R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	509					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GCCAAGGAAGTGAGACTTCTA	0.418000								Homologous recombination					15	59					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151664960	151664960	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151664960C>T	ENST00000368843.3	+	9	1409	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	SNX27_ENST00000458013.2_Missense_Mutation_p.P430L|SNX27_ENST00000368838.1_Missense_Mutation_p.P337L	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	430					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCATCTTTCCCCACTGTGCC	0.443000													24	40					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	168986231	168986231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168986231G>A	ENST00000355999.4	-	9	1717	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	338					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TTGGCTTTCTGGAAGAATTTG	0.328000													14	57					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206231126	206231126	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206231126A>G	ENST00000367126.4	+	2	1724	c.1259A>G	c.(1258-1260)gAg>gGg	p.E420G		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	420					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCACCGCTGAGACCATCATC	0.607000													8	38					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461400	11461400	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11461400A>C	ENST00000279575.1	-	3	550	c.517T>G	c.(517-519)Tcc>Gcc	p.S173A	PRB4_ENST00000535904.1_Missense_Mutation_p.S173A|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	236	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCACTTCGGGACTTGTTTCCT	0.587000										HNSCC(22;0.051)			20	345					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438743	6438743	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6438743G>A	ENST00000162749.2	-	10	1402	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.P325L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	368	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCAGCGCAACGGGGGCACGTT	0.716000													11	19					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48321364	48321364	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:48321364C>T	ENST00000376876.3	-	8	1336	c.491_splice	c.e8-1	p.D165_splice	SLC38A5_ENST00000317669.5_Splice_Site_p.D165_splice|SLC38A5_ENST00000376875.1_Splice_Site_p.D114_splice			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	165					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						AAGAACCAGTCCCTAGAGAGA	0.527000													3	0					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162742	33162742	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:33162742G>A	ENST00000510327.1	-	0	346																											ATGATGAAAGGAAAAAGAATG	0.478000													3	14					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30610510	30610510	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30610510C>T	ENST00000300415.8	+	6	994	c.981C>T	c.(979-981)atC>atT	p.I327I	CCM2L_ENST00000262659.8_Silent_p.I327I					cerebral cavernous malformation 2-like																		TCTTCCAGATCATCTACGGGG	0.582000													41	50					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535692	69535692	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69535692C>T	ENST00000338206.5	-	1	654	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	215					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCATATGTATCATATTTTTTA	0.343000													45	31					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267738	31267738	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31267738G>A	ENST00000265071.2	+	2	423	c.158G>A	c.(157-159)aGg>aAg	p.R53K	CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	53					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTTCAAAAAGGAGCTGGATG	0.458000													106	41					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37169080	37169080	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37169080A>C	ENST00000274258.7	-	34	7273	c.3686T>G	c.(3685-3687)cTt>cGt	p.L1229R	C5orf42_ENST00000508244.1_Missense_Mutation_p.L2349R|C5orf42_ENST00000425232.2_Missense_Mutation_p.L2349R			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2349										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGATATCTCAAGGGTCCCTGG	0.383000													7	113					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55603645	55603645	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55603645G>A	ENST00000263433.3	-	19	2120	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.T627I|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.T639I	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	702						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGTGGTCTCGGTCAGGGCCTC	0.701000													4	20					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592293	1592293	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:1592293T>C	ENST00000279477.7	-	2	207	c.143A>G	c.(142-144)gAg>gGg	p.E48G	SIRPB1_ENST00000568365.1_Missense_Mutation_p.E48G|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	48	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTGGCCGACTCTCCAGCTGC	0.542000													4	6					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692587	44692587	+	Silent	SNP	C	C	T	rs73432530	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:44692587C>T	ENST00000381176.4	-	3	378	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	82						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CCGTGAGGTTCGCCTGCATCA	0.597000													94	97					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779561	36779561	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36779561C>T	ENST00000416516.2	-	2	1080	c.590G>A	c.(589-591)gGg>gAg	p.G197E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	197						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCCTTCCACCCTTCCTCCCC	0.582000													43	31					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230721	75230721	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75230721C>T	ENST00000325680.7	+	1	653	c.529C>T	c.(529-531)Ccg>Tcg	p.P177S	YLPM1_ENST00000552421.1_Missense_Mutation_p.P177S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P177S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	24	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTACTACCCCCCGACCTCATC	0.632000													34	19					0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209007464	209007464	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:209007464C>T	ENST00000260988.4	-	3	473	c.426G>A	c.(424-426)ggG>ggA	p.G142G		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	142	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GATACTGCCTCCCCCTGTAGT	0.527000													47	64					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46214550	46214550	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46214550G>A	ENST00000371374.1	-	4	697	c.506C>T	c.(505-507)cCc>cTc	p.P169L	RCAN2_ENST00000405162.1_Missense_Mutation_p.P169L|RCAN2_ENST00000306764.7_Missense_Mutation_p.P169L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P123L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	123					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATCGTTGATGGGCTGCCAGCC	0.527000													22	21					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477938	149477938	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149477938G>A	ENST00000378016.2	+	0	1709							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGGGGACGGGCACTACCTC	0.662000													17	26					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179851814	179851814	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179851814C>T	ENST00000435319.3	+	1	368	c.177C>T	c.(175-177)ttC>ttT	p.F59F	TOR1AIP1_ENST00000271583.3_Silent_p.F59F	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	59						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AAGTGAGGTTCTCGGACGAGC	0.662000													25	19					0	0	1	0	0
NAT6	24142	broad.mit.edu	37	3	50334539	50334539	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50334539A>G	ENST00000443842.1	-	2	1163	c.356T>C	c.(355-357)gTt>gCt	p.V119A	HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.V119A|NAT6_ENST00000417393.1_Missense_Mutation_p.V119A|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.V141A|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCCACCACAACGGGTGCTGC	0.672000													13	30					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216839	3216839	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3216839C>T	ENST00000520002.1	-	22	3697	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1048N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1048N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1048N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1048	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCCAGGATCATCACATGGC	0.438000													21	40					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25622137	25622137	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:25622137A>T	ENST00000330688.4	+	5	1131	c.710A>T	c.(709-711)aAa>aTa	p.K237I	RARB_ENST00000404969.1_Missense_Mutation_p.K244I|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.K125I|RARB_ENST00000437042.2_Missense_Mutation_p.K125I	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	244	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAGTTTGCTAAACGTCTGCCT	0.517000													21	45					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51920406	51920406	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51920406A>G	ENST00000371117.3	-	19	2090	c.1815T>C	c.(1813-1815)taT>taC	p.Y605Y	PKHD1_ENST00000340994.4_Silent_p.Y605Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	605					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)					GATCTAGCCGATAGCCCTTCT	0.552000													5	57					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49238616	49238616	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49238616T>G	ENST00000222145.4	-	4	1220	c.1016A>C	c.(1015-1017)cAg>cCg	p.Q339P	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	339					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCGCTCCTGCTGCCGCCGCCG	0.657000													6	24					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421229	12421229	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:12421229C>T	ENST00000397026.2	+	4	426	c.43C>T	c.(43-45)Cca>Tca	p.P15S	PPARG_ENST00000309576.6_Missense_Mutation_p.P9S|PPARG_ENST00000397010.2_Missense_Mutation_p.P9S|PPARG_ENST00000539812.1_Missense_Mutation_p.P7S|PPARG_ENST00000397012.2_Missense_Mutation_p.P9S|PPARG_ENST00000397000.1_Missense_Mutation_p.P9S|PPARG_ENST00000287820.6_Missense_Mutation_p.P37S|PPARG_ENST00000397015.2_Missense_Mutation_p.P9S			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	37					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.P37S(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CACAGAGATGCCATTCTGGCC	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						42	28					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344694	56344694	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56344694G>A	ENST00000526812.2	-	1	569	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGGAGCCACAGAAGGATAAGT	0.468000													45	49					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2702413	2702413	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:2702413C>T	ENST00000399655.1	+	19	2830	c.2565C>T	c.(2563-2565)gtC>gtT	p.V855V	CACNA1C_ENST00000480911.1_Silent_p.V855V|CACNA1C_ENST00000399634.1_Silent_p.V855V|CACNA1C_ENST00000399601.1_Silent_p.V855V|CACNA1C_ENST00000399617.1_Silent_p.V855V|CACNA1C_ENST00000399606.1_Silent_p.V855V|CACNA1C_ENST00000344100.3_Silent_p.V855V|CACNA1C_ENST00000399603.1_Silent_p.V855V|CACNA1C_ENST00000399595.1_Silent_p.V855V|CACNA1C_ENST00000402845.3_Silent_p.V855V|CACNA1C_ENST00000347598.4_Silent_p.V855V|CACNA1C_ENST00000406454.3_Silent_p.V855V|CACNA1C_ENST00000399591.1_Silent_p.V855V|CACNA1C_ENST00000399621.1_Silent_p.V855V|CACNA1C_ENST00000399644.1_Silent_p.V855V|CACNA1C_ENST00000399641.1_Silent_p.V855V|CACNA1C_ENST00000399629.1_Silent_p.V855V|CACNA1C_ENST00000399597.1_Silent_p.V855V|CACNA1C_ENST00000335762.5_Silent_p.V880V|CACNA1C_ENST00000399638.1_Silent_p.V855V|CACNA1C_ENST00000399637.1_Silent_p.V855V|CACNA1C_ENST00000327702.7_Silent_p.V855V|CACNA1C_ENST00000399649.1_Silent_p.V855V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	855					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGATGCCTGTCGGCCCTCGCC	0.502000													13	20					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338307	13338307	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:13338307G>A	ENST00000602906.1	+	0	325																				kidney(3)|lung(1)	4						GTTGGACAGTGGTAAAGAGCT	0.428000													17	2					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74205829	74205829	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74205829G>A	ENST00000286523.5	-	2	1665	c.883C>T	c.(883-885)Cca>Tca	p.P295S	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P295S	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		TGTCCCAGTGGCCCAGCTGGC	0.622000													14	14					0	0	1	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143884	1143884	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1143884C>T	ENST00000328449.5	-	4	649	c.376G>A	c.(376-378)Ggc>Agc	p.G126S		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	126	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CTGTGCAGGCCCTCGCGCCGG	0.756000													5	15					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124922160	124922160	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:124922160C>T	ENST00000368865.4	+	7	996	c.787C>T	c.(787-789)Cca>Tca	p.P263S	BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368858.5_Missense_Mutation_p.P263S|BUB3_ENST00000538238.1_Missense_Mutation_p.P183S|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	263					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				TATTTGGGATCCATTTAACAA	0.408000													28	4					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34906976	34906976	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34906976A>C	ENST00000381831.3	-	4	588	c.325T>G	c.(325-327)Ttt>Gtt	p.F109V	GART_ENST00000381815.4_Missense_Mutation_p.F109V|GART_ENST00000381839.3_Missense_Mutation_p.F109V|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Missense_Mutation_p.F109V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	109					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TCTTTGGCAAACCTTTTGCTG	0.473000													5	92					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123333892	123333892	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:123333892G>A	ENST00000296513.2	+	10	1362	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ADAD1_ENST00000388724.2_Missense_Mutation_p.E382K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E375K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	393	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCAGATGGGAAGTGCTTGG	0.423000													44	121					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179514946	179514946	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179514946C>T	ENST00000589042.1	-	210	39986	c.39762G>A	c.(39760-39762)gaG>gaA	p.E13254E	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.E11747E|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.E10820E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11604	Ig-like 88.						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)			CTGGCTTTTCCTCTTCAGGAG	0.383000													3	2					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505488	11505488	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:11505488C>T	ENST00000379237.1	-	15	1833	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	USP6NL_ENST00000277575.5_Missense_Mutation_p.R497K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	480						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAACTCCTTCCTGATATTTGA	0.488000													151	163					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122271449	122271449	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122271449A>C	ENST00000462315.1	-	5	1216	c.923T>G	c.(922-924)aTt>aGt	p.I308S	PARP9_ENST00000471785.1_Missense_Mutation_p.I308S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.I343S|PARP9_ENST00000477522.2_Missense_Mutation_p.I308S	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	343	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCCAACTGTAATATCATGTGG	0.368000													27	27					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104155080	104155080	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:104155080G>A	ENST00000388887.2	+	66	7455	c.7251G>A	c.(7249-7251)acG>acA	p.T2417T	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2417	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.T2417T(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCCCTAGACGGAGACCAGGT	0.512000													27	5					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38150238	38150238	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:38150238T>G	ENST00000378505.2	-	13	1722	c.1546A>C	c.(1546-1548)Aaa>Caa	p.K516Q	RPGR_ENST00000342811.3_Missense_Mutation_p.K516Q|RPGR_ENST00000339363.3_Missense_Mutation_p.K516Q|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Missense_Mutation_p.K516Q|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.K454Q	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	516					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGTGATAATTTTAATGACTTT	0.244000													7	7					0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130496741	130496741	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130496741T>G	ENST00000373281.5	-	2	277	c.254A>C	c.(253-255)aAg>aCg	p.K85T	TOR2A_ENST00000336067.6_Missense_Mutation_p.K85T|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373284.5_Missense_Mutation_p.K85T|TOR2A_ENST00000472723.1_5'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	85					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GACCAGCGGCTTGGTGGGGGC	0.687000											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	27					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434812	35434812	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35434812A>G	ENST00000439785.1	+	5	1389	c.945A>G	c.(943-945)aaA>aaG	p.K315K	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Silent_p.K233K|ZNF30_ENST00000601142.1_Silent_p.K314K|ZNF30_ENST00000303586.7_Silent_p.K315K	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTGGCGAGAAACCCTATGAAT	0.433000													27	71					0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11586643	11586643	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:11586643T>G	ENST00000381525.3	-	7	1075	c.806A>C	c.(805-807)aAt>aCt	p.N269T	E2F6_ENST00000362009.4_3'UTR|E2F6_ENST00000546212.1_Missense_Mutation_p.N194T|E2F6_ENST00000542100.1_Missense_Mutation_p.N194T|E2F6_ENST00000307236.4_Missense_Mutation_p.N237T	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	269	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TTGCTGAGGATTTTCTTCTGG	0.363000													6	52					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277518	105277518	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:105277518C>T	ENST00000327674.4	-	4	1556	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	SERPINA7_ENST00000372563.1_Silent_p.G407G			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	407					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCACAACTTTCCCTAGAAAGA	0.388000													108	7					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351217	47351217	+	RNA	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47351217T>G	ENST00000505841.1	-	0	405					NR_002788.2																						TGGCGGTGCTTTTTCCATTTA	0.443000													12	36					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716104	8716104	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:8716104G>A	ENST00000337907.3	-	3	887	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	RERE_ENST00000400908.2_Missense_Mutation_p.R85C|RERE_ENST00000400907.2_Missense_Mutation_p.R85C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	85					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTCATAACGAGACTTTTTT	0.458000													177	166					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99674961	99674961	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:99674961A>G	ENST00000303915.6	-	2	987	c.20T>C	c.(19-21)cTc>cCc	p.L7P	ZNF3_ENST00000413658.2_Missense_Mutation_p.L7P|ZNF3_ENST00000424697.1_Missense_Mutation_p.L7P|ZNF3_ENST00000299667.4_Missense_Mutation_p.L7P			P17036	ZNF3_HUMAN	zinc finger protein 3	7					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTGAGATACGAGATCAGCCTG	0.493000													6	97					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058876	9058876	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9058876C>T	ENST00000397910.4	-	3	28773	c.28570G>A	c.(28570-28572)Gaa>Aaa	p.E9524K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9526	Ser-rich.|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						CTGGTGGTTTCCACATGGGAC	0.473000													35	58					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64542770	64542770	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64542770A>C	ENST00000357395.3	+	54	11204	c.60A>C	c.(58-60)gaA>gaC	p.E20D	SYNE2_ENST00000555002.1_Missense_Mutation_p.E292D|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3691D|SYNE2_ENST00000394768.2_Missense_Mutation_p.E20D|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3658D|SYNE2_ENST00000344113.4_Missense_Mutation_p.E3658D			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3658	Actin-binding.				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)		CAGAGATTGAATCCCAGGTGG	0.358000													4	37					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746305	111746305	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:111746305G>A	ENST00000261726.6	+	14	1387	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	411						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTTCTGGAGAAGCCCAGCC	0.612000													16	0					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184615119	184615119	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:184615119A>G	ENST00000334690.6	+	22	2638	c.2436A>G	c.(2434-2436)acA>acG	p.T812T	TRAPPC11_ENST00000357207.4_Silent_p.T812T|TRAPPC11_ENST00000512476.1_Silent_p.T418T	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	812				T -> P (in Ref. 1; CAD91169, 4; CAG38584 and 5; CAB66686).													TTCATGGAACAGAACTGTGTG	0.413000													24	41					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39802080	39802080	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39802080A>T	ENST00000564288.1	+	37	10597	c.9820A>T	c.(9820-9822)Aaa>Taa	p.K3274*	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.K1714*|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Nonsense_Mutation_p.K3279*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.K3311*|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3279					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTTCCAGAGAAACTGTTCAA	0.443000													9	99					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829321	72829321	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:72829321A>G	ENST00000268489.5	-	9	7932	c.7260T>C	c.(7258-7260)aaT>aaC	p.N2420N	ZFHX3_ENST00000397992.5_Silent_p.N1506N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2420					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTTTTGAATTGAAGGTGG	0.537000													41	3					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417538	14417538	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:14417538G>A	ENST00000507941.1	+	0	150																											GCAAATTGTGGAATTTTTACT	0.299000													3	11					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9351933	9351933	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:9351933C>T	ENST00000378501.2	+	7	591	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PLCB4_ENST00000378473.3_Silent_p.P192P|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.P192P|PLCB4_ENST00000378493.1_Silent_p.P192P|PLCB4_ENST00000334005.3_Silent_p.P192P|PLCB4_ENST00000278655.4_Silent_p.P192P	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	192					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TAGGTCTTCCCAGTGGAAAGG	0.313000													18	56					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36571942	36571942	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:36571942T>G	ENST00000431169.1	-	17	1615	c.1315A>C	c.(1315-1317)Aat>Cat	p.N439H	AOAH_ENST00000538464.1_Missense_Mutation_p.N161H|AOAH_ENST00000258749.5_Missense_Mutation_p.N439H|AOAH_ENST00000535891.1_Missense_Mutation_p.N407H|AOAH_ENST00000491444.1_5'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	439					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATGTCTTTATTTAGCTGGCCT	0.537000													21	79					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70595619	70595619	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70595619A>C	ENST00000302516.5	+	17	2431	c.2220A>C	c.(2218-2220)gaA>gaC	p.E740D		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	740					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGACACTGGAATTTGCATCGG	0.517000													21	51					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74500850	74500850	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74500850C>T	ENST00000394009.3	+	4	594	c.471C>T	c.(469-471)atC>atT	p.I157I	CCDC176_ENST00000553773.1_5'UTR|CCDC176_ENST00000489323.1_Intron|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		AGAGAAAAATCCAAGTGGAGA	0.338000													8	6					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3967831	3967831	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3967831T>G	ENST00000381638.2	-	29	4666	c.4542A>C	c.(4540-4542)gaA>gaC	p.E1514D		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1514							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACAAGGGCTCTTCAGCTGTGG	0.662000													31	65					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16918209	16918209	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16918209A>C	ENST00000310398.2	-	2	104	c.34T>G	c.(34-36)Tta>Gta	p.L12V	AGR3_ENST00000402239.3_Missense_Mutation_p.L12V	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	12						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GTGACGAGTAAGAGGCAGAGA	0.418000													20	60					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70508220	70508220	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70508220G>A	ENST00000288078.6	+	16	2198	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	FUK_ENST00000378912.2_Missense_Mutation_p.E688K|FUK_ENST00000571514.1_Missense_Mutation_p.E147K	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	656						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCTTGCCCAGGAGAGGGACAA	0.617000													17	3					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737677	247737677	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247737677C>T	ENST00000366491.2	+	7	838	c.341C>T	c.(340-342)cCa>cTa	p.P114L	RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.P114L|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.P102L|GCSAML_ENST00000463359.1_Missense_Mutation_p.P102L|GCSAML_ENST00000366488.4_Missense_Mutation_p.P134L|GCSAML_ENST00000527084.1_Missense_Mutation_p.P102L|GCSAML_ENST00000366489.1_Missense_Mutation_p.P114L					germinal center-associated, signaling and motility-like																		GTTGTGTTTCCACACTAAAAT	0.443000													25	40					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048301	8048301	+	RNA	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:8048301A>G	ENST00000607111.1	+	0	229																				kidney(1)|lung(4)|prostate(1)	6						CAGATGCAAGAACTTTCCAAC	0.418000													13	20					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593680	101593680	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:101593680C>T	ENST00000310954.6	-	7	1526	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	414					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GATGTCAATCCGAATTGATTT	0.294000													9	17					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147020384	147020384	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147020384C>T	ENST00000265272.5	-	9	1751	c.1284G>A	c.(1282-1284)agG>agA	p.R428R	JAKMIP2_ENST00000507386.1_Silent_p.R428R|JAKMIP2_ENST00000333010.6_Silent_p.R386R	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	428						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAAACAGGCCTCTAAATGG	0.418000													20	23					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17342402	17342402	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:17342402G>A	ENST00000380647.3	+	12	1930	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	CNTLN_ENST00000262360.5_Missense_Mutation_p.A616T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A616T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	616						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAATGAACTGGCATATTTCAA	0.343000													3	40					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322117	152322117	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152322117A>G	ENST00000243326.4	+	29	6566	c.6083A>G	c.(6082-6084)gAg>gGg	p.E2028G	RIF1_ENST00000453091.2_Missense_Mutation_p.E2028G|RIF1_ENST00000430328.2_Missense_Mutation_p.E2028G|RIF1_ENST00000444746.2_Missense_Mutation_p.E2028G|RIF1_ENST00000428287.2_Missense_Mutation_p.E2028G			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2028	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATCGGCGAGGCAATGGCT	0.418000													4	20					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760769	31760769	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:31760769A>G	ENST00000253362.2	+	3	335	c.189A>G	c.(187-189)ggA>ggG	p.G63G	BPIFA2_ENST00000354932.5_Silent_p.G63G			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	63						extracellular region	lipid binding										TCGACCTAGGAGTGCTTCAGA	0.488000													8	65					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173229	51173229	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:51173229C>T	ENST00000440970.1	-	2	3044	c.2613G>A	c.(2611-2613)ggG>ggA	p.G871G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.G968G|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	968					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AATCCAAAGCCCCACCATTCA	0.483000													19	0					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678406	100678406	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100678406A>G	ENST00000306151.4	+	3	3773	c.3709A>G	c.(3709-3711)Agc>Ggc	p.S1237G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1237	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTGAGGCTAGCACCCTTTC	0.522000													95	369					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880029	39880029	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39880029C>T	ENST00000530275.1	+	1	3879	c.3684C>T	c.(3682-3684)tcC>tcT	p.S1228S	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1228										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGCTTCCTCCACTGGAATGT	0.512000													14	24					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920619	43920619	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43920619C>T	ENST00000602198.1	+	6	799	c.357C>T	c.(355-357)atC>atT	p.I119I	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Silent_p.I101I|TEX101_ENST00000253435.7_Silent_p.I119I	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	101						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCGGCCTGATCGTGACCTCCT	0.527000													141	151					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67727112	67727112	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:67727112T>G	ENST00000255674.6	-	36	5200	c.4914A>C	c.(4912-4914)caA>caC	p.Q1638H	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1638							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGAGATGAGCTTGTCGAAAAG	0.403000													6	8					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059418	9059418	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9059418G>A	ENST00000397910.4	-	3	28231	c.28028C>T	c.(28027-28029)tCa>tTa	p.S9343L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9345	Ser-rich.|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						GGAGGTGTCTGATGACATTGT	0.512000													56	51					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4356424	4356424	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4356424C>T	ENST00000355530.2	+	8	1317	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	SPNS3_ENST00000333476.2_Missense_Mutation_p.A219V|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	346					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCATCTGCGCCTCCAGCCTG	0.612000													45	168					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364033	5364033	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5364033G>A	ENST00000300773.2	-	1	776	c.722C>T	c.(721-723)tCc>tTc	p.S241F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGATATGGGAGACACAGGT	0.433000													45	55					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972765	29972765	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:29972765G>A	ENST00000378993.1	+	10	2001	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G443E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	443	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGCATTATGGATATAAGTTG	0.383000													26	3					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786388	112786388	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112786388G>A	ENST00000295408.4	+	19	3204	c.2947G>A	c.(2947-2949)Gat>Aat	p.D983N	MERTK_ENST00000409780.1_Missense_Mutation_p.D807N|MERTK_ENST00000421804.2_Missense_Mutation_p.D983N			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	983					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTCATTGCCCGATGAACTTTT	0.507000													34	18					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552594	17552594	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17552594A>G	ENST00000375471.4	+	6	685	c.593A>G	c.(592-594)aAg>aGg	p.K198R		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	198					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GACAGCCACAAGCTTGTCTTG	0.567000													4	115					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2161476	2161476	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:2161476G>A	ENST00000434045.2	-	2	435	c.51C>T	c.(49-51)ctC>ctT	p.L17L	IGF2_ENST00000300632.5_Intron|IGF2_ENST00000337883.6_Intron|IGF2_ENST00000381389.1_Intron	NM_001127598.1	NP_001121070.1	P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	0					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCATAGACGCGAGTTCGGTCT	0.527000													22	26					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56423937C>T	ENST00000588751.1	-	5	1270	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000													70	28					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801902	125801902	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:125801902G>A	ENST00000346248.5	-	4	1590	c.948C>T	c.(946-948)ctC>ctT	p.L316L	CHST15_ENST00000421115.1_Silent_p.L316L|CHST15_ENST00000435907.1_Silent_p.L316L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	316					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCAGGTCAAAGAGGTCCAGAT	0.512000													46	2					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102828613	102828613	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:102828613C>T	ENST00000264257.2	+	6	829	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	IL1RL2_ENST00000441515.2_Missense_Mutation_p.H117Y|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.H235Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	235	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCAAAAAATCATTCAATTGA	0.348000													9	27					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129506	10129506	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10129506T>C	ENST00000591589.1	+	3	611	c.422T>C	c.(421-423)cTc>cCc	p.L141P	RDH8_ENST00000171214.1_Missense_Mutation_p.L121P			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	121					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTGTCCGTCTCGTCAAAGCT	0.592000													30	82					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013730	49013730	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49013730C>T	ENST00000600059.1	-	2	423	c.196G>A	c.(196-198)Gat>Aat	p.D66N	LMTK3_ENST00000270238.3_Missense_Mutation_p.D95N					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AAGCCGACATCGCCCCGTTTG	0.602000													6	8					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106547271	106547271	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:106547271G>A	ENST00000369096.4	+	4	742	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PRDM1_ENST00000369091.2_Missense_Mutation_p.E134K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E36K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	170	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTCTCCCCGGGAGCAAAACCT	0.498000			"""D, N, Mis, F, S"""		DLBCL								41	4					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338034	39338034	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39338034A>C	ENST00000221419.5	-	2	674	c.308T>G	c.(307-309)gTt>gGt	p.V103G	HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	103	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GATGTGGACAACTGGGGAGGC	0.537000													9	65					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63978601	63978601	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:63978601G>A	ENST00000260116.4	-	3	445	c.414C>T	c.(412-414)atC>atT	p.I138I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	138	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GCTCGGATGTGATTAGACTTA	0.368000													15	29					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869887	108869887	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:108869887G>A	ENST00000329106.2	+	3	388	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	SULT1C3_ENST00000376700.1_Missense_Mutation_p.E130K	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	130						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATCTGGAAAGAAAACTGCAA	0.348000													20	13					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953383	56953383	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56953383C>T	ENST00000504904.3	-	7	1700	c.981G>A	c.(979-981)gaG>gaA	p.E327E	ZNF667_ENST00000342634.3_Silent_p.E455E|ZNF667_ENST00000292069.6_Silent_p.E327E|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TAAAAGGATTCTCTAAATGGT	0.378000													41	104					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838675	155838675	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:155838675G>A	ENST00000490337.1	+	1	339	c.275_splice	c.e1+1	p.R92_splice	KCNAB1_ENST00000389636.5_Splice_Site_p.R92_splice	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	92						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATGCCGCACAGGTAAGCTGCC	0.577000													13	49					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244724017	244724017	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:244724017T>G	ENST00000366534.4	+	10	1131	c.1077T>G	c.(1075-1077)atT>atG	p.I359M	C1orf101_ENST00000366531.3_Missense_Mutation_p.I208M|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.I359M	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	359						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAAATGAAATTTACCTCGGAT	0.398000													14	41					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250683	43250683	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43250683G>A	ENST00000259750.4	+	14	2288	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	735	Glu-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			aggaggaagaggaggaggagg	0.577000													15	17					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185678	41185678	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41185678G>A	ENST00000564680.1	-	0	7																											CAGGAAGAGGGTCTGTCCTTA	0.527000													7	42					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43902761	43902761	+	Missense_Mutation	SNP	G	G	A	rs150576105		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43902761G>A	ENST00000291536.3	-	6	726	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	RSPH1_ENST00000398352.3_Missense_Mutation_p.R149C	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	187					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCTGTTAAACGATATTCACCA	0.418000													18	18					0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3543547	3543547	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:3543547T>C	ENST00000046640.3	+	3	640	c.47T>C	c.(46-48)cTc>cCc	p.L16P	CTNS_ENST00000488623.1_Intron|CTNS_ENST00000399306.2_Missense_Mutation_p.L16P|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000381870.3_Missense_Mutation_p.L16P|CTNS_ENST00000441220.2_5'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	16					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CCCCTGAAGCTCGTAGAGAAA	0.408000													21	153					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45865083	45865083	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45865083T>A	ENST00000311275.7	-	16	3036	c.2783A>T	c.(2782-2784)aAg>aTg	p.K928M	ZMYND8_ENST00000355972.4_Missense_Mutation_p.K928M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K876M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K877M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K902M|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K796M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K902M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K819M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K882M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K955M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K877M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K948M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K928M			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	928							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTAGTGTACTTGGCAATATC	0.592000													23	118					0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109547664	109547664	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:109547664C>T	ENST00000336865.2	+	6	1014	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	UNG_ENST00000242576.2_Missense_Mutation_p.P278S	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	278					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GACGGCTCATCCCTCCCCTTT	0.408000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				66	5					0	0	1	0	0
KLF1	10661	broad.mit.edu	37	19	12995747	12995747	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12995747A>C	ENST00000264834.4	-	3	1081	c.1041T>G	c.(1039-1041)gcT>gcG	p.A347A		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	347					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCGAAAAAGCACGTGGGC	0.642000													17	69					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435678	158435678	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158435678C>T	ENST00000289451.2	+	1	407	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCTTTGGCTCCTCTCACTCCT	0.517000													70	84					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599198	47599198	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47599198A>T	ENST00000533290.1	-	1	1143	c.429T>A	c.(427-429)atT>atA	p.I143I	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Silent_p.I118I|KBTBD4_ENST00000525720.1_Silent_p.I167I|KBTBD4_ENST00000395288.2_Silent_p.I118I|KBTBD4_ENST00000430070.2_Silent_p.I134I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	118										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACACCTCATAAATTTCCTGCA	0.478000													34	97					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043851	7043851	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:7043851C>T	ENST00000310085.4	-	1	877	c.815G>A	c.(814-816)gGc>gAc	p.G272D	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	272										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GGCCTCTGCGCCCCGGTCAGC	0.642000													52	10					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100880831	100880831	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100880831A>T	ENST00000401528.1	-	2	1157	c.32T>A	c.(31-33)tTc>tAc	p.F11Y	CLDN15_ENST00000308344.5_Missense_Mutation_p.F11Y|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTTGCCATGAAGAAGCCAAA	0.612000													17	17					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29631291	29631291	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29631291C>T	ENST00000356870.3	+	17	2783	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	PTPRU_ENST00000460170.2_Silent_p.F891F|PTPRU_ENST00000373779.3_Silent_p.F891F|PTPRU_ENST00000345512.3_Silent_p.F901F|PTPRU_ENST00000323874.8_Silent_p.F891F|PTPRU_ENST00000428026.2_Silent_p.F891F|PTPRU_ENST00000415600.2_3'UTR	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	901	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGTAGAGCTTCTTTGAAGGCT	0.602000													22	22					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389761	158389761	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158389761G>A	ENST00000314902.2	-	1	895	c.896C>T	c.(895-897)tCa>tTa	p.S299L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACAAAGAGCTGATTTGAACTC	0.363000													24	27					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368759	111368759	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111368759G>A	ENST00000428084.1	-	53	5771	c.5499C>T	c.(5497-5499)ttC>ttT	p.F1833F	DOCK4_ENST00000437633.1_Silent_p.F1824F|DOCK4_ENST00000494651.2_Silent_p.F707F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1824	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAGAGGGGGTGAAAGACTGCA	0.592000													11	12					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921776	78921776	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:78921776C>T	ENST00000261751.3	-	5	982	c.871G>A	c.(871-873)Gat>Aat	p.D291N	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	291					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGAGGCACATCGAGGGAGGTG	0.572000													41	1					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32777991	32777991	+	Missense_Mutation	SNP	T	T	C	rs150746174		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32777991T>C	ENST00000427716.2	+	13	2048	c.1624T>C	c.(1624-1626)Tca>Cca	p.S542P	FGD4_ENST00000266482.3_Missense_Mutation_p.S294P|FGD4_ENST00000546442.1_Missense_Mutation_p.S449P|FGD4_ENST00000534526.2_Missense_Mutation_p.S679P|FGD4_ENST00000531134.1_Missense_Mutation_p.S627P|FGD4_ENST00000525053.1_Missense_Mutation_p.S654P	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	542					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGACATTCACTCAGAGGTTTC	0.343000													19	53					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566438	136566438	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136566438C>T	ENST00000264162.2	-	8	3489	c.3479G>A	c.(3478-3480)aGa>aAa	p.R1160K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1160	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCTCCGTTTCTAAAAATGGG	0.567000													21	47					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	154001512	154001512	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:154001512T>G	ENST00000369550.5	+	11	1353	c.1143T>G	c.(1141-1143)ggT>ggG	p.G381G	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	381					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAAGTGGGGTTTAGGTCCAA	0.403000									Congenital Dyskeratosis				4	35					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151413640	151413640	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:151413640T>G	ENST00000367321.3	+	27	3159	c.2885T>G	c.(2884-2886)tTt>tGt	p.F962C	RP1-292B18.4_ENST00000415477.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	962	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGGCCCTGCTTTTATGACATA	0.498000													4	41					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555223	182555223	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:182555223T>G	ENST00000367559.3	-	2	972	c.719A>C	c.(718-720)aAg>aCg	p.K240T	RNASEL_ENST00000539397.1_Missense_Mutation_p.K240T|RNASEL_ENST00000444138.1_Missense_Mutation_p.K240T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	240	2-5A binding (P-loop) 1.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGGGGAGTCTTCCCTCTTTC	0.522000													14	73					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039273	248039273	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248039273G>A	ENST00000366481.3	+	6	991	c.943G>A	c.(943-945)Gat>Aat	p.D315N	OR2W3_ENST00000537741.1_De_novo_Start_InFrame	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	315	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGTGTGCAGGATGGAGAACC	0.582000													21	25					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826105	34826105	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34826105T>G	ENST00000192788.5	+	14	2143	c.1972T>G	c.(1972-1974)Ttt>Gtt	p.F658V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.F658V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	658										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCAGGTGGCTTTAGCCTTCT	0.483000													23	102					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327493	67327493	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67327493T>C	ENST00000304372.5	-	12	2227	c.2172A>G	c.(2170-2172)agA>agG	p.R724R		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	724						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGTGCCAGCTCTTTTTGGGG	0.547000													10	85					0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40714972	40714972	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:40714972A>G	ENST00000361263.4	-	3	941	c.260T>C	c.(259-261)tTt>tCt	p.F87S	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_3'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000380749.5_3'UTR			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				ATAGTTGATAAAAATATTCCT	0.353000													4	16					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135835	46135835	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46135835C>T	ENST00000371383.2	-	3	425	c.165G>A	c.(163-165)atG>atA	p.M55I	ENPP5_ENST00000230565.3_Missense_Mutation_p.M55I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	55						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CACCATATTTCATAATATAAT	0.363000													8	18					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52623165	52623165	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52623165A>G	ENST00000356770.4	-	17	2792	c.2790T>C	c.(2788-2790)gaT>gaC	p.D930D	PBRM1_ENST00000409057.1_Silent_p.D962D|PBRM1_ENST00000296302.7_Silent_p.D962D|PBRM1_ENST00000409767.1_Silent_p.D977D|PBRM1_ENST00000409114.3_Silent_p.D977D|PBRM1_ENST00000394830.3_Silent_p.D962D|PBRM1_ENST00000337303.4_Silent_p.D962D|PBRM1_ENST00000410007.1_Silent_p.D962D			Q86U86	PB1_HUMAN	polybromo 1	962					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATAGACGTAATCTCCAACAT	0.443000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								7	110					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24445651	24445651	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24445651C>T	ENST00000398319.2	+	7	1010	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	CABIN1_ENST00000405822.2_Missense_Mutation_p.R209W|CABIN1_ENST00000263119.5_Missense_Mutation_p.R209W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	209					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTTGTCTCCGGAAGGACTC	0.512000													47	56					0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954750	10954750	+	Silent	SNP	G	G	A	rs140600741		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10954750G>A	ENST00000240687.2	-	1	476	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	140					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TAAACACAGAGAGAACCACGC	0.423000													13	19					0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233546297	233546297	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233546297C>T	ENST00000264059.3	+	4	1065	c.588C>T	c.(586-588)gtC>gtT	p.V196V	EFHD1_ENST00000409613.1_Silent_p.V100V|EFHD1_ENST00000409708.1_Silent_p.V84V|EFHD1_ENST00000410095.1_Silent_p.V84V	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	196							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CTCTGCAGGTCCAAGCCTTGT	0.572000													77	59					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53204596	53204596	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53204596C>T	ENST00000551956.1	-	3	1174	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	KRT4_ENST00000293774.4_Missense_Mutation_p.E302K|KRT4_ENST00000458244.2_Missense_Mutation_p.E208K			B4DRS2	B4DRS2_HUMAN	keratin 4	228						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ATCTCCTCTTCATACCTGGGG	0.488000													37	4					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080095	70080095	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70080095G>A	ENST00000446444.1	-	1	354	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	116					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AATTCCCACAGGATTTCTTGT	0.294000													19	21					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831056	7831056	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7831056A>C	ENST00000327325.5	+	4	865	c.747A>C	c.(745-747)caA>caC	p.Q249H	CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q221H|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q227H|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q198H|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q237H|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q249H	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	249	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCAGCAGCAAATCTATCAAG	0.512000													19	80					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654729	35654729	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35654729C>T	ENST00000440995.2	+	7	879	c.879C>T	c.(877-879)atC>atT	p.I293I	SPEF2_ENST00000282469.6_Silent_p.I293I|SPEF2_ENST00000509059.1_Silent_p.I293I|SPEF2_ENST00000356031.3_Silent_p.I293I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	293					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAAAAAATCCAGAAGCGCC	0.418000													18	53					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284580	43284580	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:43284580C>T	ENST00000511537.1	-	0	355					NR_033868.1																						CTCAATAATTCCTCCTGCCAG	0.428000													6	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179406093	179406093	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179406093C>T	ENST00000589042.1	-	350	97935	c.97711G>A	c.(97711-97713)Gaa>Aaa	p.E32571K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23698K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23506K|TTN_ENST00000359218.5_Missense_Mutation_p.E23631K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E30930K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30003K|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30930	Ig-like 143.						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)			ACACGGTGTTCATATTCTAAG	0.478000													3	4					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147455	77147455	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:77147455G>A	ENST00000461745.1	+	2	1252	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ROBO2_ENST00000332191.8_Missense_Mutation_p.E118K|ROBO2_ENST00000487694.3_Missense_Mutation_p.E134K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	118	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTATCTTGGTGAAGCAGTGAG	0.443000													21	82					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462430	5462430	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5462430G>A	ENST00000380211.1	-	1	314	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTGTGGATGAAGAACATCT	0.453000													22	25					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575715	28575715	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:28575715C>T	ENST00000220562.4	+	3	3041	c.2139C>T	c.(2137-2139)gtC>gtT	p.V713V	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.V329V	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	713						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACATTGGCGTCCCCATCATGG	0.463000													26	35					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617549	617549	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:617549C>T	ENST00000358353.3	-	16	2662	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K	CDHR5_ENST00000397542.2_Silent_p.K780K|CDHR5_ENST00000349570.7_Silent_p.K586K			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	780					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCCGCCGCTCCTTGGTCAGGA	0.736000													13	30					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75296004	75296004	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75296004C>T	ENST00000325680.7	+	19	6376	c.6252C>T	c.(6250-6252)ccC>ccT	p.P2084P	YLPM1_ENST00000552421.1_Silent_p.P1378P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1889					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCAGCTCCCCGATGATTATG	0.473000													44	48					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568423	142568423	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142568423C>T	ENST00000392957.2	+	19	3729	c.2942C>T	c.(2941-2943)gCt>gTt	p.A981V	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.A704V|EPHB6_ENST00000442129.1_Missense_Mutation_p.A981V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	981	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGTGATGTGGCTCAGCTCAGC	0.602000													80	76					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757798	62757798	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:62757798C>T	ENST00000281156.4	-	3	599	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	107	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTTATCTCTCATTGATCCTT	0.403000													38	56					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188699	41188699	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41188699T>G	ENST00000252891.4	-	5	500	c.333A>C	c.(331-333)cgA>cgC	p.R111R	NUMBL_ENST00000540131.1_Silent_p.R70R|NUMBL_ENST00000598779.1_Silent_p.R70R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	111	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TCACGGACTTTCGGCCCATCT	0.657000													3	50					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46021202	46021202	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46021202A>C	ENST00000296137.2	-	4	488	c.283T>G	c.(283-285)Tca>Gca	p.S95A	FYCO1_ENST00000535325.1_Missense_Mutation_p.S95A	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	95	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTACCTCTGAGATAGACTTG	0.502000													29	61					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149408	41149408	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41149408G>A	ENST00000263413.3	-	17	2822	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	C6_ENST00000337836.5_Missense_Mutation_p.S853L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	853	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGTTGGATGAAAGTCTTGT	0.423000													56	233					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2979865	2979865	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2979865A>G	ENST00000399667.2	+	3	542	c.179A>G	c.(178-180)cAg>cGg	p.Q60R	FLYWCH1_ENST00000253928.9_Missense_Mutation_p.Q60R|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.Q60R			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	60						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						TCCAAGCCCCAGGAAGTGCAC	0.652000													8	30					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166162	19166162	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:19166162G>A	ENST00000375371.3	-	6	2472	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	817					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCTCCGGGTAGAAGAGGATCA	0.617000													8	49					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52570018	52570018	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:52570018T>C	ENST00000395961.3	-	11	1799	c.1633A>G	c.(1633-1635)Aga>Gga	p.R545G	BCAS1_ENST00000371440.3_Missense_Mutation_p.R554G|BCAS1_ENST00000371435.2_Missense_Mutation_p.R467G|BCAS1_ENST00000434986.2_Missense_Mutation_p.R211G	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	545						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTCAGGTCTCTTTTGGAGC	0.547000													15	80					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2641453	2641453	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:2641453T>C	ENST00000382100.2	+	4	758	c.402T>C	c.(400-402)tgT>tgC	p.C134C	VLDLR_ENST00000382099.2_Silent_p.C134C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	134	LDL-receptor class A 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CCTGGAGATGTGATGGTGAAA	0.428000													24	74					0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243965	88243965	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88243965A>C	ENST00000328546.4	-	1	93	c.29T>G	c.(28-30)cTt>cGt	p.L10R	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.L10R	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	10						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GGTGATCAGAAGCAGAAGGAT	0.458000													11	27					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5960343	5960343	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5960343A>C	ENST00000379999.5	+	14	2259	c.2155A>C	c.(2155-2157)Atc>Ctc	p.I719L	FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000362091.4_Missense_Mutation_p.I668L|FBXO18_ENST00000397269.3_Missense_Mutation_p.I155L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	668					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ATGTGGGAAAATCTTTGTAGG	0.527000													32	125					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46785381	46785381	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:46785381G>A	ENST00000262738.3	-	18	6360	c.6361C>T	c.(6361-6363)Cgc>Tgc	p.R2121C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2121					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTCATTGCGGCTCAGCTTC	0.607000													25	37					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309073	21309073	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:21309073C>T	ENST00000417816.2	-	3	575	c.222G>A	c.(220-222)ctG>ctA	p.L74L	NEBL_ENST00000377159.4_Silent_p.L40L	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	738					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGCTGCTTCAGGCGAAGAT	0.413000													33	40					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41610002	41610002	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:41610002A>G	ENST00000216237.5	+	3	526	c.368A>G	c.(367-369)aAg>aGg	p.K123R	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	123					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAACTCCAAGAAAGCCAGT	0.532000													4	85					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39003037	39003037	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39003037T>C	ENST00000355481.4	+	63	9517	c.9386T>C	c.(9385-9387)cTc>cCc	p.L3129P	RYR1_ENST00000360985.3_Missense_Mutation_p.L3129P|RYR1_ENST00000359596.3_Missense_Mutation_p.L3129P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3129					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCCAGAACCTCACCTACACC	0.627000													13	41					0	0	1	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702761	40702761	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:40702761G>A	ENST00000356699.5	+	4	447	c.418G>A	c.(418-420)Gag>Aag	p.E140K	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		GTCCTCTCATGAGCCTATGGA	0.597000													33	208					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348885	47348885	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47348885C>T	ENST00000505841.1	-	0	578					NR_002788.2																						AGGCACACTTCATGATGCTGT	0.498000													18	41					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206240141	206240141	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:206240141G>A	ENST00000331555.5	-	5	949	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	104						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TACCTGGCAGGCAGGAGGCGA	0.512000													51	64					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872807	213872807	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:213872807C>T	ENST00000457361.1	-	8	1026	c.856_splice	c.e8-1	p.G286_splice	IKZF2_ENST00000451136.2_Splice_Site_p.G214_splice|IKZF2_ENST00000421754.2_Splice_Site_p.G212_splice|IKZF2_ENST00000374327.4_Splice_Site_p.G141_splice|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Splice_Site_p.G286_splice|IKZF2_ENST00000342002.2_Splice_Site_p.G292_splice|IKZF2_ENST00000374319.4_Splice_Site_p.G260_splice	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGAGCTTTTCCCCTGGAAGGG	0.373000													11	11					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475264	33475264	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:33475264T>G	ENST00000265371.4	-	15	2740	c.2215A>C	c.(2215-2217)Aaa>Caa	p.K739Q	NRP1_ENST00000374867.2_Missense_Mutation_p.K739Q|NRP1_ENST00000395995.1_Missense_Mutation_p.K739Q			O14786	NRP1_HUMAN	neuropilin 1	739	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TAGCGCAGTTTGACCCTGAGT	0.572000													17	35					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18745157	18745157	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:18745157G>A	ENST00000304081.4	-	9	1658	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	NT5C1B_ENST00000359846.2_Missense_Mutation_p.H580Y|NT5C1B_ENST00000600945.1_Missense_Mutation_p.H580Y|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.H580Y	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAGAAGATGTGGGGCCGGATC	0.498000													58	37					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729890	80729890	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:80729890G>A	ENST00000458043.2	+	38	4549	c.4543G>A	c.(4543-4545)Gat>Aat	p.D1515N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1503N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGTGAACAGTGATATCTGCTG	0.403000													16	3					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40043923	40043923	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:40043923G>A	ENST00000352035.2	-	17	1934	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	ACLY_ENST00000537919.1_Missense_Mutation_p.P331S|ACLY_ENST00000590151.1_Missense_Mutation_p.P602S|ACLY_ENST00000393896.2_Missense_Mutation_p.P592S|ACLY_ENST00000353196.1_Missense_Mutation_p.P592S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	602					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGGGCCTCAGGGATGCCTTCA	0.542000													35	26					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25485643	25485643	+	Missense_Mutation	SNP	G	G	A	rs143892728		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:25485643G>A	ENST00000278886.6	-	6	662	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NINL_ENST00000422516.1_Missense_Mutation_p.P197S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	197	EF-hand 3.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGCTCTCTGGGGTGTCAAAG	0.637000													16	17					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432870	104432870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104432870C>T	ENST00000361820.3	-	3	2424	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	608					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCCCATTTTTCCATGCTCCAT	0.483000													19	15					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343043	48343043	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48343043C>T	ENST00000221996.7	+	4	925	c.719C>T	c.(718-720)cCc>cTc	p.P240L	CRX_ENST00000539067.1_Missense_Mutation_p.P240L|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	240					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTCTCTGGCCCCTCCGTGGGA	0.647000													119	133					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16071378	16071378	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:16071378G>A	ENST00000352083.6	-	11	1435	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I	SOX6_ENST00000396356.3_Missense_Mutation_p.T453I|SOX6_ENST00000528252.1_Missense_Mutation_p.T412I|SOX6_ENST00000527619.1_Missense_Mutation_p.T415I|SOX6_ENST00000316399.6_Missense_Mutation_p.T453I|SOX6_ENST00000528429.1_Missense_Mutation_p.T453I			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	453					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GACAGGGCTGGTTTTGCTGGC	0.537000													103	131					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825705	76825705	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76825705C>T	ENST00000248598.5	-	2	1243	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	404	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCAGAAAATCCCATTACGGAC	0.463000													27	17					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21788238	21788238	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:21788238G>A	ENST00000328843.6	+	53	8603	c.8572G>A	c.(8572-8574)Gct>Act	p.A2858T	DNAH11_ENST00000409508.3_Missense_Mutation_p.A2851T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2858	AAA 4 (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						TCAGGGCTGTGCTCTCTTGGT	0.562000									Kartagener syndrome				5	38					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46216458	46216458	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:46216458T>C	ENST00000317683.3	-	2	429	c.296A>G	c.(295-297)gAg>gGg	p.E99G		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	99							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCACCTTCTCCTTTGTATT	0.632000													24	93					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53670637	53670637	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53670637C>T	ENST00000257934.4	+	8	2025	c.1934C>T	c.(1933-1935)aCc>aTc	p.T645I	ESPL1_ENST00000552462.1_Missense_Mutation_p.T645I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	645					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACGCAGCAGACCAACTGGTAA	0.607000													56	3					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072528	53072528	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53072528C>T	ENST00000252244.3	-	2	662	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	202	Coil 1A.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TTCTGCTGCTCCAGGAACCTC	0.453000													18	1					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857127	9857127	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9857127G>A	ENST00000396573.2	-	14	4583	c.4274C>T	c.(4273-4275)tCg>tTg	p.S1425L	GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1425					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1425L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGCTCCGAAATATACAC	0.473000													24	25					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039223	11039223	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:11039223C>T	ENST00000470054.1	-	0	980									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGATTCTTCTTTGGATACC	0.423000													11	145					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7804738	7804738	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:7804738A>C	ENST00000338316.4	+	22	2905	c.2816A>C	c.(2815-2817)aAg>aCg	p.K939T	ADCY2_ENST00000537121.1_Missense_Mutation_p.K759T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	939					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAAAAGATTAAGACCATTGGC	0.517000													20	55					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825706	76825706	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76825706C>T	ENST00000248598.5	-	2	1242	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	404	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAGAAAATCCCATTACGGACA	0.468000													28	17					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175945431	175945431	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:175945431T>C	ENST00000264110.2	-	13	1546	c.1248A>G	c.(1246-1248)aaA>aaG	p.K416K	ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392543.2_Silent_p.K37K|ATF2_ENST00000426833.3_Silent_p.K398K|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000409635.1_Silent_p.K358K|ATF2_ENST00000409499.1_Silent_p.K55K|ATF2_ENST00000392544.1_Silent_p.K416K|ATF2_ENST00000345739.5_Silent_p.K358K|ATF2_ENST00000409437.1_Silent_p.K300K	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	416					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CAGGGCAATCTTTATGAGCCA	0.443000													4	105					0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167403309	167403309	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:167403309A>G	ENST00000392122.3	-	6	482	c.338T>C	c.(337-339)cTg>cCg	p.L113P	CD247_ENST00000362089.5_Missense_Mutation_p.L114P|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	114	ITAM 2.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			ATCTTTCTGCAGTTCCTGCAG	0.493000													34	160					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47597918	47597918	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47597918A>G	ENST00000273857.4	-	22	2948	c.2949T>C	c.(2947-2949)ggT>ggC	p.G983G	CORIN_ENST00000508498.1_Silent_p.G844G|CORIN_ENST00000502252.1_Silent_p.G916G|CORIN_ENST00000505909.1_Silent_p.G946G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	983	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACCGCTGTCACCCTGCAATA	0.483000													4	28					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8788075	8788075	+	Silent	SNP	G	G	A	rs148443913		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8788075G>A	ENST00000447110.1	-	15	2278	c.2154C>T	c.(2152-2154)atC>atT	p.I718I	PIK3R5_ENST00000584803.1_Silent_p.I717I|PIK3R5_ENST00000581552.1_Silent_p.I718I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	718	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGTCGCCATCGATGCCCAGCC	0.602000													46	3					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71941504	71941504	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71941504A>G	ENST00000541756.1	+	10	1393	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	INPPL1_ENST00000538751.1_Missense_Mutation_p.S155G|INPPL1_ENST00000298229.2_Missense_Mutation_p.S397G			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	397					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CATCTTTGTCAGTGCCCGGGT	0.587000													13	47					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149243352	149243352	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149243352C>T	ENST00000407073.1	+	11	3884	c.2887C>T	c.(2887-2889)Ctg>Ttg	p.L963L	MBD5_ENST00000404807.1_Silent_p.L1196L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	963						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAACCATCAACTGACTCATCT	0.388000													14	7					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139981611	139981611	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:139981611T>G	ENST00000394235.2	-	9	1490	c.988A>C	c.(988-990)Aat>Cat	p.N330H	ELF2_ENST00000358635.3_Missense_Mutation_p.N282H|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000510408.1_Missense_Mutation_p.N270H|ELF2_ENST00000265495.4_Missense_Mutation_p.N330H|ELF2_ENST00000379550.1_Missense_Mutation_p.N342H|ELF2_ENST00000379549.2_Missense_Mutation_p.N253H	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	342					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GGGGATGAATTTTTTCCACTG	0.453000													17	61					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550835	169550835	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:169550835C>T	ENST00000340806.6	+	4	1394	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	465										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AATTTGGATTCCCTAGTGAAT	0.428000													30	69					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28796141	28796141	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28796141T>G	ENST00000422425.2	+	21	1479	c.1435T>G	c.(1435-1437)Tta>Gta	p.L479V	PLB1_ENST00000327757.5_Missense_Mutation_p.L468V|PLB1_ENST00000329020.6_Missense_Mutation_p.L156V	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	468	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TAATGCCTTCTTAAACCAGGC	0.557000													3	15					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44836945	44836945	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44836945G>A	ENST00000270162.6	-	14	2161	c.2029C>T	c.(2029-2031)Ccc>Tcc	p.P677S		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	677					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCCGGCTGGGGGGCCTGGGAG	0.726000													10	5					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26808662	26808662	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:26808662T>G	ENST00000381340.3	-	20	2984	c.2568A>C	c.(2566-2568)gaA>gaC	p.E856D		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	856					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTTTATTTTTTTCTTTATCCC	0.333000													9	42					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30439235	30439235	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30439235G>A	ENST00000286788.4	-	5	745	c.539C>T	c.(538-540)gCc>gTc	p.A180V	CCT8_ENST00000542732.1_Missense_Mutation_p.A161V|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.A107V	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	180					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AATAAGCTTGGCCAGAAATAC	0.348000													21	25					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166382	206166382	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206166382C>T	ENST00000406610.2	+	18	2794	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S	PARD3B_ENST00000462231.1_Missense_Mutation_p.P863S|PARD3B_ENST00000358768.2_Missense_Mutation_p.P801S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P863S|PARD3B_ENST00000351153.1_Missense_Mutation_p.P794S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	863	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		gaatgaagatccagaaaggaa	0.418000													5	18					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628585	51628585	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51628585C>T	ENST00000440804.3	+	1	421	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SIGLEC9_ENST00000250360.3_Silent_p.F118F	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	118	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAGATACTTCTTTCGTATGG	0.498000													47	38					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101793384	101793384	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101793384C>T	ENST00000263468.8	+	2	411	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	47							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATATGAAAATCCATCTGGAGA	0.343000													8	12					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52266273	52266273	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52266273T>G	ENST00000354831.7	-	23	2789	c.2600A>C	c.(2599-2601)aAg>aCg	p.K867T	NRD1_ENST00000352171.7_Missense_Mutation_p.K799T|NRD1_ENST00000544028.1_Missense_Mutation_p.K667T|NRD1_ENST00000539524.1_Missense_Mutation_p.K735T|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	798					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GTAGGTCTTCTTCAACTGCTC	0.393000													13	153					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257227	105257227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105257227C>T	ENST00000507740.1	+	18	3096	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	RIMS2_ENST00000339750.2_Nonsense_Mutation_p.R76*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.R1158*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R979*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R1140*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1202					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGATGACTCGACAGGCAAG	0.498000										HNSCC(12;0.0054)			63	66					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104084314	104084314	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:104084314G>A	ENST00000388887.2	+	30	3499	c.3295G>A	c.(3295-3297)Ggg>Agg	p.G1099R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1099	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAAGGTGGATGGGGTAAGAGC	0.413000													20	2					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280975	280975	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:280975C>T	ENST00000534750.1	+	4	1446	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	NLRP6_ENST00000312165.5_Missense_Mutation_p.T414I	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	414	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACGTCCAAGACCACCACGTCA	0.657000													101	107					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212322	26212322	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:26212322C>T	ENST00000379034.1	+	2	508	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	120	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCAGGTGTTTCAGGCTCAAAA	0.542000													51	3					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952512	54952512	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54952512C>T	ENST00000273286.5	-	3	1174	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E262K	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	338						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCAAATCGCTCTTTTTCTTCC	0.517000													106	78					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770132	15770132	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15770132G>A	ENST00000221307.7	+	13	1548	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	CYP4F3_ENST00000586182.1_Silent_p.R500R|CYP4F3_ENST00000585846.1_Silent_p.R500R|CYP4F3_ENST00000591058.1_Silent_p.R500R	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	500					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCCCCGCAGGAAGCCGGAGC	0.662000													22	28					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100617735	100617735	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:100617735T>G	ENST00000471714.1	-	4	462	c.353A>C	c.(352-354)aAa>aCa	p.K118T	ABI3BP_ENST00000284322.5_Missense_Mutation_p.K118T|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.K118T			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	118						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGAACGAGTTTTACCTGTGGA	0.483000													14	53					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968024	4968024	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4968024C>T	ENST00000380373.2	-	1	332	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.443000													49	122					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41655500	41655500	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41655500G>A	ENST00000394283.1	-	6	1944	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	TFEB_ENST00000403298.4_Missense_Mutation_p.H240Y|TFEB_ENST00000420312.1_Missense_Mutation_p.H155Y|TFEB_ENST00000358871.2_Missense_Mutation_p.H254Y|TFEB_ENST00000373033.1_Missense_Mutation_p.H240Y|TFEB_ENST00000230323.4_Missense_Mutation_p.H240Y			P19484	TFEB_HUMAN	transcription factor EB	240					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTTAAGTTGTGATTGTCTTTC	0.587000			T	ALPHA	renal (childhood epithelioid)								86	114					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11755269	11755269	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:11755269A>C	ENST00000381486.2	+	20	3475	c.3175A>C	c.(3175-3177)Aca>Cca	p.T1059P	GREB1_ENST00000396123.1_Missense_Mutation_p.T57P|GREB1_ENST00000234142.5_Missense_Mutation_p.T1059P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1059						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTGGTGAGAACAGCCTTGGA	0.537000													8	36					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132334421	132334421	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:132334421C>T	ENST00000360564.1	+	9	1381	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	MMP17_ENST00000535291.1_Missense_Mutation_p.P343S|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	427	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTTCAGCCTCCCGCCTGGCGG	0.587000													32	45					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25023890	25023890	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:25023890A>C	ENST00000381989.3	-	25	3185	c.3080T>G	c.(3079-3081)tTt>tGt	p.F1027C		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1027	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTTTGCATTAAAATATTCAAA	0.333000													8	56					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381230	147381230	+	Missense_Mutation	SNP	A	A	C	rs150084611		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:147381230A>C	ENST00000240986.4	+	2	1201	c.1148A>C	c.(1147-1149)aAa>aCa	p.K383T	GJA8_ENST00000369235.1_Missense_Mutation_p.K383T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	383					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGGGTGAAAAAGAAGAGCCG	0.577000													6	12					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913327	77913327	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:77913327G>A	ENST00000321110.1	-	2	886	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	197							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGAATTCCTGGGCATTTGAAG	0.547000													14	17					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48559655	48559655	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:48559655G>A	ENST00000435803.1	+	53	13840	c.13816G>A	c.(13816-13818)Gat>Aat	p.D4606N	ABCA13_ENST00000544596.1_Missense_Mutation_p.D336N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4606					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAATATCTATGATGTCCTCAA	0.333000													8	10					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410568	100410568	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100410568T>G	ENST00000358173.3	-	12	2387	c.1919A>C	c.(1918-1920)aAg>aCg	p.K640T	EPHB4_ENST00000360620.3_Missense_Mutation_p.K640T	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	640	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACAGCTCTCCTTCTTCCCTGG	0.627000													12	191					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19603415	19603415	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19603415G>A	ENST00000404158.1	+	6	846	c.428G>A	c.(427-429)aGg>aAg	p.R143K	GATAD2A_ENST00000358713.3_Missense_Mutation_p.R143K|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000429563.2_5'UTR|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R143K|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R143K			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	143					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAACGAGAAAGGATGATCAAG	0.512000													34	39					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018141	103018141	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103018141T>G	ENST00000306312.3	-	18	2152	c.1891A>C	c.(1891-1893)Aga>Cga	p.R631R	SLC26A5_ENST00000393723.1_Silent_p.R601R|SLC26A5_ENST00000393727.1_Silent_p.R633R|SLC26A5_ENST00000393729.1_Silent_p.R594R|SLC26A5_ENST00000393730.1_Silent_p.R599R|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.R64R|SLC26A5_ENST00000339444.6_Silent_p.R631R|SLC26A5_ENST00000432958.2_Silent_p.R599R	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	631	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGCATAAATCTTTGCATTTCC	0.423000													8	79					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796126	11796126	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11796126G>A	ENST00000344893.3	+	0	2125					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TCTTACACATGAAAGAACTCA	0.363000													15	36					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96104240	96104240	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:96104240G>A	ENST00000278520.5	-	6	1574	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	CCDC82_ENST00000542662.1_Silent_p.N382N|CCDC82_ENST00000423339.2_Silent_p.N382N			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	382							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GAACAAAGCGGTTATCCAAAT	0.373000													9	19					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217856629	217856629	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:217856629T>A	ENST00000366933.4	+	5	376	c.321T>A	c.(319-321)gtT>gtA	p.V107V		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	107	IQ 3.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GCTATAGGGTTCGGAAGTACC	0.318000													31	119					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22095462	22095462	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:22095462G>A	ENST00000382374.4	-	6	584	c.519C>T	c.(517-519)ccC>ccT	p.P173P		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		ATCCAGAATGGGGTTCTGCAG	0.313000													12	10					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267734	31267734	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31267734A>C	ENST00000265071.2	+	2	419	c.154A>C	c.(154-156)Aaa>Caa	p.K52Q	CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	52					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAACCGTTCAAAAAGGAGCTG	0.458000													6	141					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266980	16266980	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:16266980C>T	ENST00000343518.6	-	9	1520	c.1469G>A	c.(1468-1470)aGa>aAa	p.R490K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	490										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCAGGTGTTCTGCTTTTCCT	0.438000													12	155					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58441395	58441395	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:58441395A>C	ENST00000357552.3	-	41	4498	c.4273T>G	c.(4273-4275)Ttt>Gtt	p.F1425V	SYCP2_ENST00000371001.2_Missense_Mutation_p.F1425V			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1425					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTTTTTCAAAATTCTCCAGC	0.239000													5	30					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209862	65209862	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65209862C>T	ENST00000247226.7	+	15	3241	c.2933C>T	c.(2932-2934)tCc>tTc	p.S978F	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S539F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S567F|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S1034F	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1034					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCCGGCCCTCCGCCCGGAGC	0.682000													98	120					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45268513	45268513	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45268513A>G	ENST00000372201.4	+	6	974	c.735A>G	c.(733-735)tcA>tcG	p.S245S	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	245	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATGTATGGTCACTGGGCTGTG	0.602000													9	97					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096948	51096948	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:51096948T>G	ENST00000395542.2	-	12	2275	c.2091A>C	c.(2089-2091)ttA>ttC	p.L697F	COBL_ENST00000265136.7_Missense_Mutation_p.L615F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	615										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGATGTTAGATAAGGCCACAC	0.498000													5	78					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465987	160465987	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160465987C>T	ENST00000368059.3	-	2	315	c.246G>A	c.(244-246)caG>caA	p.Q82Q	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Silent_p.Q82Q	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	82						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTCGCTTTCCCTGTTTCGGAT	0.463000													61	64					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408196	197408196	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197408196T>C	ENST00000273582.5	-	17	2644	c.2099A>G	c.(2098-2100)tAc>tGc	p.Y700C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.Y770C|KIAA0226_ENST00000296343.5_Missense_Mutation_p.Y745C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	745					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTGGCAGAAGTACTTGCCCAG	0.527000													21	178					0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18541718	18541718	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18541718C>T	ENST00000270061.6	+	5	567	c.347C>T	c.(346-348)tCc>tTc	p.S116F	SSBP4_ENST00000348495.5_Missense_Mutation_p.S116F	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	116						nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GCCGCAGGCTCCATGGCGGCT	0.667000													15	21					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018433	1018433	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1018433A>G	ENST00000421673.2	-	31	4418	c.4368T>C	c.(4366-4368)acT>acC	p.T1456T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1456	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTACTTGGAGTCACCAAGG	0.552000													12	425					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176943307	176943307	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176943307G>A	ENST00000507955.1	-	3	803	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	94					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTCTCTTTAAGGTGCTGGTGC	0.582000													38	73					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118494982	118494982	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:118494982A>G	ENST00000349139.4	+	18	2014	c.1967A>G	c.(1966-1968)aAg>aGg	p.K656R		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	656						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAAGATCATAAGATTAAACAG	0.378000													9	97					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489940	20489940	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20489940G>A	ENST00000573854.1	+	10	1336	c.1222G>A	c.(1222-1224)Gga>Aga	p.G408R	ACSM2A_ENST00000575690.1_Missense_Mutation_p.G408R|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G180R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G408R|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G329R|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G408R	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	408					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGGCACAGAAGGAGACATTGG	0.522000													15	38					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201334319	201334319	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201334319G>A	ENST00000509001.1	-	9	667	c.381_splice	c.e9+1	p.I127_splice	TNNT2_ENST00000458432.2_Splice_Site_p.I139_splice|TNNT2_ENST00000367315.2_Splice_Site_p.I127_splice|TNNT2_ENST00000367317.4_Splice_Site_p.I127_splice|TNNT2_ENST00000421663.2_Splice_Site_p.I129_splice|TNNT2_ENST00000236918.7_Splice_Site_p.I132_splice|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367318.5_Splice_Site_p.I127_splice|TNNT2_ENST00000367322.1_Splice_Site_p.I127_splice|TNNT2_ENST00000360372.4_Splice_Site_p.I122_splice	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	137					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GGACACCTACGATCCTGTCTT	0.557000													60	84					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193279	28193279	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:28193279G>A	ENST00000302326.4	-	1	4207	c.3253C>T	c.(3253-3255)Cct>Tct	p.P1085S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1085							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCACGGGGAGGGAGTTTGGGC	0.657000			T	ETV6	"""AML, meningioma"""								8	7					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149922826	149922826	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:149922826T>C	ENST00000367411.2	-	7	1050	c.792A>G	c.(790-792)acA>acG	p.T264T	KATNA1_ENST00000335643.8_Silent_p.T188T|KATNA1_ENST00000335647.5_Silent_p.T264T|KATNA1_ENST00000494504.1_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	264					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TCTTGCATTCTGTAGCTACTG	0.448000													16	20					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782227	34782227	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34782227G>A	ENST00000338074.2	+	12	1555	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R434Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R368Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R465Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R403Q|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R403Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	465					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGGGGGCAACGGTCAGAGGCT	0.597000													15	13					0	0	1	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586243	106586243	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106586243G>A	ENST00000390602.2	-	0	321																											GCCCTTCACGGAGCCTGGATA	0.512000													57	63					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763129	23763129	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23763129T>G	ENST00000336689.3	-	16	1539	c.1495A>C	c.(1495-1497)Aac>Cac	p.N499H	ASAP3_ENST00000495646.1_Missense_Mutation_p.N3H|ASAP3_ENST00000437606.2_Missense_Mutation_p.N490H|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	499	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AAGCTCGTGTTTCCCATGTTC	0.577000													6	91					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333131	33333131	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:33333131C>T	ENST00000023064.4	-	11	1358	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	SLC7A9_ENST00000587772.1_Silent_p.T389T|SLC7A9_ENST00000590341.1_Silent_p.T389T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	389					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.T389T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTCCTAGAATCGTCAGGCCAT	0.428000													36	39					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289709	68289709	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:68289709C>T	ENST00000219345.5	+	5	626	c.543C>T	c.(541-543)atC>atT	p.I181I	PLA2G15_ENST00000566188.1_Intron|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	181					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GCGAGATGATCGAGGAGATGT	0.627000													24	3					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557431	214557431	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:214557431G>A	ENST00000366956.5	-	13	1961	c.1767C>T	c.(1765-1767)taC>taT	p.Y589Y	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	589					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCGCTGACGTACTTGTGGC	0.637000													12	66					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043419	180043419	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180043419A>C	ENST00000261937.6	-	23	3245	c.3167T>G	c.(3166-3168)tTt>tGt	p.F1056C	FLT4_ENST00000502649.1_Missense_Mutation_p.F1056C|FLT4_ENST00000393347.3_Missense_Mutation_p.F1056C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1056	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGCAAGGCCAAAGTCACAGAT	0.617000													10	40					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76549581	76549581	+	Silent	SNP	C	C	T	rs142020645		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:76549581C>T	ENST00000314067.6	+	8	490	c.456C>T	c.(454-456)atC>atT	p.I152I	IFT43_ENST00000238628.6_Silent_p.I157I	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	152					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATGGGGAGATCGACCTGAAAC	0.532000													13	20					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174893	112174893	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112174893C>T	ENST00000457016.1	+	16	3982	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S1201L|APC_ENST00000257430.4_Missense_Mutation_p.S1201L			P25054	APC_HUMAN	adenomatous polyposis coli	1201	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAAGAGTTCATCTGGACAA	0.393000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	25					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40920278	40920278	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40920278A>G	ENST00000346991.5	+	12	5855	c.5465A>G	c.(5464-5466)cAc>cGc	p.H1822R	CASC5_ENST00000399668.2_Missense_Mutation_p.H1796R			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1822					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATTTTTGATCACCATACTGAA	0.338000													5	37					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30074201	30074201	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30074201C>T	ENST00000338641.4	+	14	1904	c.1463C>T	c.(1462-1464)cCa>cTa	p.P488L	NF2_ENST00000361166.4_Missense_Mutation_p.P488L|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Missense_Mutation_p.P447L|NF2_ENST00000347330.5_Silent_p.S215S|NF2_ENST00000361676.4_Missense_Mutation_p.P446L|NF2_ENST00000403435.1_Missense_Mutation_p.P459L|NF2_ENST00000397789.3_Missense_Mutation_p.P488L|NF2_ENST00000353887.4_Missense_Mutation_p.P405L|NF2_ENST00000334961.7_Missense_Mutation_p.P405L|NF2_ENST00000403999.3_Missense_Mutation_p.P488L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	488					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.P486fs*26(1)|p.P483fs*17(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AACCCAATTCCAGCACCGTTG	0.473000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				65	68					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203732	56203732	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:56203732A>C	ENST00000361673.3	-	5	3900	c.3687T>G	c.(3685-3687)aaT>aaG	p.N1229K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1229							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGCCTCCCAATTTCCAGGTC	0.468000													29	33					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	C	T	rs147738330		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28358748C>T	ENST00000337532.5	-	14	1433	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_ENST00000375719.3_Missense_Mutation_p.R386Q|MPP7_ENST00000445954.2_Missense_Mutation_p.R261Q|MPP7_ENST00000375732.1_Missense_Mutation_p.R386Q|MPP7_ENST00000540098.1_Missense_Mutation_p.R386Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	386	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAGCAGCTTTCGTTTCAGTTC	0.438000													12	13					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26223885	26223885	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:26223885T>G	ENST00000380737.3	+	9	1356	c.1027T>G	c.(1027-1029)Ttt>Gtt	p.F343V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.F353V	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGACTGCATATTTGACAAATT	0.313000													7	99					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135026251	135026251	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:135026251G>A	ENST00000304613.3	+	24	4289	c.4268G>A	c.(4267-4269)gGg>gAg	p.G1423E	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1425E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGAGGCAACGGGCTGGTGCTG	0.701000													20	2					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370082	36370082	+	Missense_Mutation	SNP	A	A	C	rs144655560		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36370082A>C	ENST00000221891.4	+	16	2012	c.1820A>C	c.(1819-1821)aAg>aCg	p.K607T	APLP1_ENST00000586861.1_Missense_Mutation_p.K600T|APLP1_ENST00000537454.2_Missense_Mutation_p.K567T	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	606					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCGCAGGAAGAAGCCCTAC	0.657000													4	72					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566573	37566573	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:37566573G>A	ENST00000300651.6	-	17	2124	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	634	Interaction with PPARGC1A and THRA.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCGGCCATCGAAGAGACAGG	0.517000										HNSCC(31;0.082)			39	3					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580355	37580355	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:37580355G>A	ENST00000217429.4	+	4	1081	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	317					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTCACCAACCGAAAACCACAG	0.572000													63	75					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52874586	52874586	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52874586A>G	ENST00000355083.5	-	8	954	c.809T>C	c.(808-810)gTg>gCg	p.V270A	TMEM110_ENST00000464769.1_5'UTR|TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V270A	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		GTCCTCCTCCACGTCGGACTC	0.587000													22	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179490110	179490110	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179490110G>A	ENST00000589042.1	-	241	44662	c.44438C>T	c.(44437-44439)tCa>tTa	p.S14813L	TTN_ENST00000342175.6_Missense_Mutation_p.S5940L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5748L|TTN_ENST00000359218.5_Missense_Mutation_p.S5873L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S13172L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12245L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13172	Fibronectin type-III 7.						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)			TTTTCCTTCTGAACGTGGGAC	0.348000													66	47					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7611638	7611638	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7611638C>T	ENST00000256861.6	-	12	2220	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	ITIH5_ENST00000446830.2_Silent_p.R496R|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.R500R	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	714					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TACCAGAGTCCCTGTGATCAG	0.552000													13	13					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184076902	184076902	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184076902A>G	ENST00000265593.4	-	2	252	c.81T>C	c.(79-81)acT>acC	p.T27T	CLCN2_ENST00000434054.2_Silent_p.T27T|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.T27T|CLCN2_ENST00000457512.1_Silent_p.T27T|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	27						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAAGGTCCTGAGTGTACCGGC	0.617000													6	148					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62130686	62130686	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62130686T>C	ENST00000433197.2	-	16	2094	c.1999A>G	c.(1999-2001)Acc>Gcc	p.T667A		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	667	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCAGCAAGGTGATGGGCTCC	0.612000													17	55					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18197822	18197822	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:18197822C>T	ENST00000388870.2	+	12	1392	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.S252L|KDM1B_ENST00000397244.1_Missense_Mutation_p.S252L			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	384					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTAAGAAATCAGTCATCATT	0.403000													15	17					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422635	6422635	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6422635G>A	ENST00000389906.2	-	10	1627	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	APBB1_ENST00000299402.6_Missense_Mutation_p.R508C|APBB1_ENST00000530885.1_Missense_Mutation_p.R288C|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R508C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	510					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCAAGCAGCGGGCATTACGC	0.557000													29	41					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637924	70637924	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70637924G>A	ENST00000322773.4	+	5	492	c.390_splice	c.e5+1	p.Q130_splice		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	130	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATATTCCACAGGTAAAGTACC	0.413000													37	1					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454493	84454493	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:84454493C>T	ENST00000377084.2	-	1	2035	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	384						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATCTTGTTATCTCGTAGGAAA	0.463000													44	75					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581180	24581180	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:24581180C>T	ENST00000535378.1	-	8	1868	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	KIAA0319_ENST00000430948.2_Missense_Mutation_p.G373E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G418E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G418E|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G418E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	418	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATTGACAAATCCTTCTCCAAA	0.393000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	77					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823682	114823682	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:114823682C>T	ENST00000315366.7	-	2	2414	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	ARSJ_ENST00000541197.1_Silent_p.V516V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	516						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGAGCTTCTTCACGATTCCTG	0.512000													21	17					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7230808	7230808	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7230808G>A	ENST00000399464.2	-	2	693	c.678C>T	c.(676-678)gcC>gcT	p.A226A	NEURL4_ENST00000570460.1_Silent_p.A226A|NEURL4_ENST00000315614.7_Silent_p.A226A	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGTGGGGGCCAAGGGCT	0.622000													125	4					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037837	105037837	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105037837A>C	ENST00000369849.4	+	1	918	c.869A>C	c.(868-870)aAg>aCg	p.K290T		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	290	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TACAAGTCCAAGTTTGCCAAC	0.647000													5	19					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220549	146220549	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:146220549G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						ACAACCAAGGGGAAATTTGCC	0.458000													18	19					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54157593	54157593	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54157593A>C	ENST00000474759.1	+	2	224	c.176A>C	c.(175-177)aAg>aCg	p.K59T	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.K59T|CACNA2D3_ENST00000490478.1_5'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.K59T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	59						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATTGCTGCTAAGTACTCCGGT	0.498000													27	73					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989599	47989599	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47989599A>G	ENST00000371741.4	-	2	2664	c.2498T>C	c.(2497-2499)cTt>cCt	p.L833P		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	833					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGGTTCTCAAGTTTGCACTT	0.532000													10	52					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718660	42718660	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:42718660G>A	ENST00000230882.4	+	10	1241	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	GHR_ENST00000357703.3_Missense_Mutation_p.D329N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.D164N	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	351					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)	GCTAGATATTGATGAGCCAGA	0.413000													36	209					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491652	128491652	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128491652C>T	ENST00000325888.8	+	35	6073	c.5812C>T	c.(5812-5814)Ccg>Tcg	p.P1938S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1905S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1938					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGCACATCCCGGGGAGCCC	0.577000													33	38					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720640	121720640	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121720640C>T	ENST00000273691.3	-	4	556	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	ILDR1_ENST00000462014.1_Missense_Mutation_p.G163R|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G151R|ILDR1_ENST00000393631.1_Intron	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	151	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GATGTGTCCCCTGGAGCCTCA	0.493000													82	54					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36293123	36293123	+	Missense_Mutation	SNP	G	G	A	rs145515786	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36293123G>A	ENST00000437635.2	-	6	1282	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	369										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GATGGGGTGGGAAGCACGGAG	0.567000													29	34					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511004	2511004	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2511004A>G	ENST00000569496.1	+	4	443	c.384A>G	c.(382-384)caA>caG	p.Q128Q	C16orf59_ENST00000563531.1_Silent_p.Q128Q|C16orf59_ENST00000361837.4_Silent_p.Q128Q|C16orf59_ENST00000483320.1_5'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	128										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCCAGGCCAAGCTGGTGGCC	0.657000													21	52					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048738	42048738	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:42048738A>G	ENST00000372584.1	-	3	2745	c.1731T>C	c.(1729-1731)agT>agC	p.S577S	HIVEP3_ENST00000372583.1_Silent_p.S577S|HIVEP3_ENST00000247584.5_Silent_p.S577S|HIVEP3_ENST00000429157.2_Silent_p.S577S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	577	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TAAACACGTGACTGCTGTGGC	0.597000													18	88					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348019	38348019	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38348019T>G	ENST00000273173.4	+	1	593	c.502T>G	c.(502-504)Tcg>Gcg	p.S168A	SLC22A14_ENST00000448498.1_Missense_Mutation_p.S168A	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	168						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TAAGAAGCGATCGCTGATCAA	0.502000													12	66					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029165	76029165	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76029165A>G	ENST00000319211.4	+	2	1380	c.1115A>G	c.(1114-1116)tAt>tGt	p.Y372C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	372					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTAATTTACTATTACGCTTCC	0.493000													33	49					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552640	95552640	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:95552640C>T	ENST00000371418.4	+	6	904	c.644C>T	c.(643-645)tCc>tTc	p.S215F	LGI1_ENST00000542308.1_Missense_Mutation_p.S167F|LGI1_ENST00000371413.3_Missense_Mutation_p.S215F	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	215	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AATAGTCTCTCCTCGAAGGAT	0.408000													57	5					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23802527	23802527	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:23802527C>T	ENST00000354639.3	+	11	1796	c.1332C>T	c.(1330-1332)cgC>cgT	p.R444R	STK31_ENST00000428484.1_Silent_p.R444R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.R467R|STK31_ENST00000433467.2_Silent_p.R467R	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAATAAACGCTTAAAAACAT	0.284000													17	28					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642270	196642270	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196642270T>G	ENST00000367429.4	+	2	461	c.221T>G	c.(220-222)cTt>cGt	p.L74R	CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Missense_Mutation_p.L74R|CFH_ENST00000439155.2_Missense_Mutation_p.L74R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	74	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGTTGCTCTTAATCCATTA	0.338000													13	73					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026801	176026801	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176026801A>G	ENST00000303991.4	-	2	212	c.35T>C	c.(34-36)cTg>cCg	p.L12P		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	12						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTTGAAGCAGCTGGAGCCA	0.612000													12	17					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13283704	13283704	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:13283704C>T	ENST00000332995.7	+	11	1560	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	PHACTR1_ENST00000457702.2_Silent_p.I375I|RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000379335.3_Silent_p.I84I|PHACTR1_ENST00000379329.1_Silent_p.I84I			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	520						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGATCCTCATCCGCTTCAGTG	0.582000													63	94					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176984011	176984011	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176984011C>T	ENST00000367654.2	-	8	1476	c.1462_splice	c.e8-1	p.G488_splice	ASTN1_ENST00000367657.3_Splice_Site_p.G480_splice|ASTN1_ENST00000424564.2_Splice_Site_p.G480_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Splice_Site_p.G480_splice			O14525	ASTN1_HUMAN	astrotactin 1	488	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGCATTCCCCTTAGAAGCA	0.423000													130	133					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702224	179702224	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179702224G>A	ENST00000420890.2	-	23	3839	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	CCDC141_ENST00000295723.5_Missense_Mutation_p.S666F|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	666							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGGCTGAGGGAGGAGCTGAC	0.582000													15	15					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661948	4661948	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4661948G>A	ENST00000357605.2	+	1	1004	c.928G>A	c.(928-930)Gag>Aag	p.E310K		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E310Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGACCAAAGAGATCTGTTC	0.493000													37	34					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132265	15132265	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15132265G>A	ENST00000292574.3	+	4	1057	c.975G>A	c.(973-975)caG>caA	p.Q325Q		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	325					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGGAGCAACAGCTGCAGATAA	0.612000													19	27					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128522423	128522423	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:128522423T>G	ENST00000322313.4	-	6	763	c.605A>C	c.(604-606)aAg>aCg	p.K202T	WDR33_ENST00000393006.1_Missense_Mutation_p.K202T|WDR33_ENST00000409658.3_Missense_Mutation_p.K202T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	202					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AATCGCCTCCTTATGTGCCTG	0.418000													9	123					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19121011	19121011	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19121011G>A	ENST00000601879.1	-	5	2288	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	SUGP2_ENST00000456085.2_Missense_Mutation_p.S433F|SUGP2_ENST00000337018.6_Missense_Mutation_p.S664F|SUGP2_ENST00000452918.2_Missense_Mutation_p.S664F|SUGP2_ENST00000600377.1_Missense_Mutation_p.S678F			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	664					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GACAGCCCGGGAGTACAGCAT	0.632000													85	82					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13542024	13542024	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:13542024C>T	ENST00000341083.3	-	3	342	c.46G>A	c.(46-48)Gac>Aac	p.D16N	BEND7_ENST00000396898.2_Missense_Mutation_p.D68N|BEND7_ENST00000378605.3_Missense_Mutation_p.D16N|BEND7_ENST00000396900.2_Missense_Mutation_p.D68N	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	68							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CCAGTGCTGTCGTTCAGCAAT	0.443000													40	75					0	0	1	0	0
MIR659	724029	broad.mit.edu	37	22	38243703	38243703	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38243703G>A	ENST00000384963.1	-	0	78					NR_030396.1																						acattgttggggaccctccct	0.408000													22	61					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350																											TACAGATGCTACGGTGCACAC	0.677000													4	96					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392062	178392062	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178392062A>G	ENST00000320129.3	+	5	960	c.657A>G	c.(655-657)agA>agG	p.R219R	ZNF454_ENST00000519564.1_Silent_p.R219R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATGAATGTAGAGAATGTGGGA	0.358000													25	23					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70340915	70340915	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:70340915T>G	ENST00000333646.6	+	5	847	c.648T>G	c.(646-648)ggT>ggG	p.G216G	MED12_ENST00000374080.3_Silent_p.G216G|MED12_ENST00000374102.1_Silent_p.G216G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	216					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G216G(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCTGTGGTTCCACGATAG	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	34					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45808530	45808530	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45808530C>T	ENST00000327619.5	+	13	1657	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	EYA2_ENST00000357410.3_Intron|EYA2_ENST00000317304.6_Missense_Mutation_p.S398F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	428					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTGACCCACTCCCTGAAGGCA	0.552000													7	15					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919532	54919532	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54919532G>A	ENST00000474759.1	+	23	2023	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D659N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D565N|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D659N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	659						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAACACTGACCTACACCC	0.458000													19	5					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114165484	114165484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114165484C>T	ENST00000369615.1	+	9	1290	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R410*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R410*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R435*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	435					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCCTTGTTCGAGCATCACT	0.378000													21	29					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030380	95030380	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95030380G>A	ENST00000557004.1	+	2	982	c.561G>A	c.(559-561)aaG>aaA	p.K187K	SERPINA4_ENST00000555095.1_Silent_p.K187K|SERPINA4_ENST00000298841.5_Silent_p.K187K|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	187					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACCACGTCAAGAAGGAAACTC	0.463000													17	166					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255104	9255104	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9255104C>T	ENST00000383440.2	+	8	2027	c.1770C>T	c.(1768-1770)caC>caT	p.H590H	ANKRD12_ENST00000400020.3_Silent_p.H590H|ANKRD12_ENST00000262126.3_Silent_p.H613H	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	613						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAGATTTCCACTTAGAATTTG	0.308000													39	17					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151804202	151804202	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151804202C>T	ENST00000318247.6	-	1	146	c.40_splice	c.e1+1	p.R13_splice	RORC_ENST00000392697.3_5'UTR	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	13	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTACCCCGTGAGGCTC	0.662000													69	73					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10449580	10449580	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10449580G>A	ENST00000160262.5	-	2	329	c.121C>T	c.(121-123)Cct>Tct	p.P41S	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	41					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GAGAGCACAGGGTTCTGGGGC	0.547000													23	35					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853410	12853410	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12853410C>T	ENST00000332296.7	+	2	137	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	12										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACTGGAGCTGGCAGGGCA	0.552000													74	82					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150704006	150704006	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150704006C>T	ENST00000297494.3	+	16	2207	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	NOS3_ENST00000461406.1_Missense_Mutation_p.S411F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	617	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AACAGCATCTCCTGCTCAGAC	0.607000													25	88					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505016	70505016	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:70505016C>T	ENST00000457664.2	-	1	342	c.343G>A	c.(343-345)Gct>Act	p.A115T	UGT2A1_ENST00000514019.1_Missense_Mutation_p.A316T|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000503640.1_Intron	NM_001105677.2	NP_001099147.2																					TTGTAGAAAGCCCATATTGTG	0.368000													4	44					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20555495	20555495	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:20555495G>A	ENST00000504154.1	+	26	2881	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	SLIT2_ENST00000273739.5_Missense_Mutation_p.E881K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E869K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E873K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	877	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGTGAAGTCGGAATATAAGGA	0.443000													22	34					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137321076	137321076	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137321076A>T	ENST00000033079.3	-	10	1500	c.1049T>A	c.(1048-1050)aTt>aAt	p.I350N	FAM13B_ENST00000420893.2_Missense_Mutation_p.I350N|FAM13B_ENST00000425075.2_Missense_Mutation_p.I232N	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	350					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGCAATATCAATCCTAGGGAT	0.323000													15	28					0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141464686	141464686	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141464686C>T	ENST00000323570.3	+	8	814	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	228	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GAAGTTTCATCTCTATAACCT	0.328000													25	30					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961249	99961249	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:99961249C>T	ENST00000297565.4	+	2	565	c.69C>T	c.(67-69)ttC>ttT	p.F23F	OSR2_ENST00000522510.1_Silent_p.F23F|OSR2_ENST00000435298.2_Silent_p.F23F|OSR2_ENST00000523368.1_Silent_p.F23F|OSR2_ENST00000457907.2_Silent_p.F144F	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	23					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ATTACTCCTTCCTGCAGGCCG	0.647000													15	65					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50768858	50768858	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:50768858T>G	ENST00000216923.4	-	6	2222	c.1873A>C	c.(1873-1875)Aca>Cca	p.T625P	ZFP64_ENST00000371515.4_Missense_Mutation_p.T623P|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.T571P|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ACTTCTGCTGTCCCCTCCTGA	0.547000													9	75					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285527	238285527	+	Silent	SNP	G	G	A	rs145203676		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238285527G>A	ENST00000295550.4	-	7	3410	c.2958C>T	c.(2956-2958)atC>atT	p.I986I	COL6A3_ENST00000392003.2_Silent_p.I579I|COL6A3_ENST00000392004.3_Silent_p.I780I|COL6A3_ENST00000353578.4_Silent_p.I780I|COL6A3_ENST00000347401.3_Silent_p.I785I|COL6A3_ENST00000346358.4_Silent_p.I786I|COL6A3_ENST00000472056.1_Silent_p.I379I|COL6A3_ENST00000409809.1_Silent_p.I780I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	986	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGACAGCACGATCTGCTCTA	0.512000													48	107					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155063	55155063	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:55155063A>G	ENST00000257290.5	+	20	3103	c.2772A>G	c.(2770-2772)gaA>gaG	p.E924E	FIP1L1_ENST00000507166.1_Silent_p.E684E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	924	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTACCAGTGAAGTGTGAGCTC	0.582000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	30					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149585080	149585080	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149585080C>G	ENST00000230671.2	+	13	1966	c.1595C>G	c.(1594-1596)cCg>cGg	p.P532R	SLC6A7_ENST00000524041.1_Missense_Mutation_p.P532R	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	532						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TACCGCTTCCCGCCCTGGGCT	0.612000													21	26					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898288	30898288	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30898288C>T	ENST00000375712.3	+	2	875	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	236	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)			AAAACCACATCCGTGTAGGAA	0.502000													11	33					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148745555	148745555	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:148745555T>A	ENST00000514349.1	+	3	830	c.251T>A	c.(250-252)cTg>cAg	p.L84Q	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.L174Q			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	174					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGAGCTGCTCTACTCA	0.547000													12	20					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467968	6467968	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6467968G>A	ENST00000381480.2	-	23	2065	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V	DENND1C_ENST00000543576.1_Silent_p.V607V	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	651						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ATGGAGACGTGACTTCTTGGT	0.557000													16	21					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88888279	88888279	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:88888279G>A	ENST00000303236.3	-	7	1607	c.1306_splice	c.e7+1	p.H436_splice	EIF2AK3_ENST00000419748.1_Splice_Site_p.H285_splice	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	436					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATTCACTTACGAATTAAGGGT	0.348000													18	73					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307056	43307056	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43307056T>G	ENST00000361428.2	-	10	4757	c.4680A>C	c.(4678-4680)ttA>ttC	p.L1560F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1560					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)			TGGCTGTGGCTAAGCATGAAT	0.493000													4	70					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15643441	15643441	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:15643441G>A	ENST00000437605.2	+	9	775	c.525G>A	c.(523-525)gtG>gtA	p.V175V	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Silent_p.V175V	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	175	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ACATCCTCGTGGCCTATTCTG	0.468000													108	6					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:62423848G>A	ENST00000383710.4	-	28	4057	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_ENST00000283269.9_Silent_p.F1197F|CADPS_ENST00000357948.3_Silent_p.F1157F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1236	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448000													18	27					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569295	129569295	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:129569295C>T	ENST00000389441.4	-	1	1250	c.10G>A	c.(10-12)Gat>Aat	p.D4N	TMEM132D_ENST00000422113.2_Intron			Q14C87	T132D_HUMAN	transmembrane protein 132D	0						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)		GAGCTTTCATCCCGTTGCATG	0.527000													6	0					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046553	42046553	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42046553T>A	ENST00000220809.4	-	4	408	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	PLAT_ENST00000524009.1_Missense_Mutation_p.Q51L|PLAT_ENST00000519510.1_Missense_Mutation_p.Q51L|PLAT_ENST00000429710.2_Missense_Mutation_p.Q51L|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.Q51L|PLAT_ENST00000270189.6_Missense_Mutation_p.Q51L	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	51	Fibronectin type-I.|Important for binding to annexin A2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTGATGTTGCTGGTATATCAT	0.493000													63	179					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107456	45107456	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45107456A>C	ENST00000340648.4	+	13	1318	c.1201A>C	c.(1201-1203)Agg>Cgg	p.R401R		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	401					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAAGAGAAGAAGGAAGAAGAA	0.542000													21	76					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170609	36170609	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:36170609G>A	ENST00000335119.2	+	1	1221	c.1110G>A	c.(1108-1110)atG>atA	p.M370I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	370					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCACACCATGGTGACCTGTG	0.562000													33	46					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555867	125555867	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:125555867G>C	ENST00000431078.1	+	19	3548	c.3184G>C	c.(3184-3186)Gac>Cac	p.D1062H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1062	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCTTCTCAGGACTTCGTGGT	0.493000													6	20					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480352	10480352	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:10480352C>T	ENST00000382483.3	-	2	583	c.360G>A	c.(358-360)caG>caA	p.Q120Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	120					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTTTCTCTCCTGTGGCCGGC	0.627000													9	21					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7803245	7803245	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7803245T>C	ENST00000380358.4	+	16	2754	c.2753T>C	c.(2752-2754)cTg>cCg	p.L918P	CHD3_ENST00000330494.7_Missense_Mutation_p.L859P|CHD3_ENST00000358181.4_Missense_Mutation_p.L859P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	859	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATGTTCTCCTGACATCGTAT	0.522000													4	93					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117307203	117307203	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:117307203G>A	ENST00000369478.3	+	4	819	c.711G>A	c.(709-711)agG>agA	p.R237R		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	237					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TCACCAAAAGGAAAAAACAGA	0.493000													8	39					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927327	55927327	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55927327G>A	ENST00000313447.1	-	1	466	c.467C>T	c.(466-468)gCt>gTt	p.A156V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAACATCAGAGCCTGAAATGT	0.393000													20	73					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32994048	32994048	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32994048G>A	ENST00000340811.4	-	6	1578	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	PKP2_ENST00000070846.6_Silent_p.P534P	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	534					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACCCAGAAAAGGGGATGATGA	0.418000													78	75					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131499	142131499	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142131499G>A	ENST00000390375.2	-	0	296																											GGGAACTGGTGACCTGAGAAT	0.542000													53	71					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538529	27538529	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27538529C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTCCAACCTCCGTAGTGGGTT	0.498000													101	107					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114290689	114290689	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:114290689G>A	ENST00000357077.4	+	43	11391	c.11338G>A	c.(11338-11340)Gaa>Aaa	p.E3780K	ANK2_ENST00000264366.6_Missense_Mutation_p.E3747K|ANK2_ENST00000509550.1_Missense_Mutation_p.E871K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1695K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1686K|ANK2_ENST00000510275.2_Missense_Mutation_p.E347K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3747					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGGAACAGAAACATCAGA	0.483000													25	60					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147742	100147742	+	Silent	SNP	G	G	A	rs145473445		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:100147742G>A	ENST00000231461.5	-	5	1199	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	297					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		AATCCATACAGGTGAATTTCA	0.388000													16	17					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69083318	69083318	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69083318G>A	ENST00000229179.4	+	3	438	c.106G>A	c.(106-108)Gca>Aca	p.A36T	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	36					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TACAGTTCAGGCATCTCAAGA	0.328000													28	107					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505004	70505004	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70505004T>G	ENST00000310961.5	+	22	3816	c.3398T>G	c.(3397-3399)tTt>tGt	p.F1133C	LRRC7_ENST00000035383.5_Missense_Mutation_p.F1128C|LRRC7_ENST00000415775.2_Missense_Mutation_p.F412C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1128						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGGCCATGTTTAGAAGGGTC	0.592000													7	175					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112031414	112031414	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:112031414C>T	ENST00000369716.4	-	3	823	c.690G>A	c.(688-690)acG>acA	p.T230T	ADORA3_ENST00000369717.4_Silent_p.T149T	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.T230T(2)|p.T149T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGTACCAGCCCGTGTCCTCTT	0.532000													27	20					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54610241	54610241	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:54610241C>T	ENST00000371330.1	-	2	1172	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Splice_Site	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	109	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGCGGGGGCACCTTGCCGCAG	0.587000													32	30					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4960939	4960939	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4960939T>G	ENST00000345988.2	-	2	163	c.74A>C	c.(73-75)aAg>aCg	p.K25T	PPL_ENST00000590782.2_Missense_Mutation_p.K25T	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	25					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGAGAGCTCCTTGTTAGAGAT	0.637000													8	25					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91867004	91867004	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:91867004A>G	ENST00000394507.1	-	7	1115	c.332T>C	c.(331-333)tTt>tCt	p.F111S	KRIT1_ENST00000340022.2_Missense_Mutation_p.F111S|KRIT1_ENST00000394503.2_Missense_Mutation_p.F111S|KRIT1_ENST00000412043.2_Missense_Mutation_p.F111S|KRIT1_ENST00000394505.2_Missense_Mutation_p.F111S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	111					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGAACAATAAATAATGATGC	0.299000													5	33					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208303	50208303	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50208303C>T	ENST00000392518.4	+	9	1183	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	CPT1C_ENST00000598293.1_Missense_Mutation_p.R271C|CPT1C_ENST00000405931.2_Missense_Mutation_p.R260C|CPT1C_ENST00000354199.5_Missense_Mutation_p.R271C|CPT1C_ENST00000323446.5_Missense_Mutation_p.R271C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	271					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCAGGCAGCTCGCGCTGGGAA	0.652000													38	48					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228773	142228773	+	Silent	SNP	G	G	T	rs144027256		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142228773G>T	ENST00000519067.1	-	4	1116	c.813C>A	c.(811-813)ccC>ccA	p.P271P	SLC45A4_ENST00000024061.3_Silent_p.P271P|SLC45A4_ENST00000433583.2_Silent_p.P264P|SLC45A4_ENST00000517878.1_Silent_p.P322P			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	322					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACAGCAGCTCGGGCTCCAGGT	0.672000													65	67					8.07507e-42	8.16209e-42	1	1	0
TGFB1I1	7041	broad.mit.edu	37	16	31488840	31488840	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31488840C>T	ENST00000394863.3	+	11	1459	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	TGFB1I1_ENST00000361773.3_Silent_p.F426F|TGFB1I1_ENST00000394858.2_Silent_p.F426F|TGFB1I1_ENST00000567607.1_Silent_p.F426F	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	443	LIM zinc-binding 4.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						AGGGGTCCTTCCAGGAGCGCG	0.716000													4	7					0	0	1	0	0
NUDT3	11165	broad.mit.edu	37	6	34309697	34309697	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34309697C>T	ENST00000607016.1	-	2	463	c.152G>A	c.(151-153)gGa>gAa	p.G51E	RP1-187N21.4_ENST00000605528.1_Missense_Mutation_p.G170E	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3											lung(2)	2						CTCCATGCCTCCTCCAGGGAC	0.537000													13	48					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39525810	39525810	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39525810C>T	ENST00000251646.3	-	1	242	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	65	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.622000													28	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470335	179470335	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179470335C>T	ENST00000589042.1	-	279	53911	c.53687G>A	c.(53686-53688)gGa>gAa	p.G17896E	TTN_ENST00000342175.6_Missense_Mutation_p.G9023E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8831E|TTN_ENST00000359218.5_Missense_Mutation_p.G8956E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16255E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15328E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16255	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGATATATCCTTGGATGGG	0.448000													71	38					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679414	6679414	+	RNA	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:6679414T>A	ENST00000518724.1	-	0	934							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ACCATCCTATTTCTAGAAGGG	0.522000													12	19					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157164914	157164914	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:157164914A>T	ENST00000231198.7	+	5	891	c.647A>T	c.(646-648)aAg>aTg	p.K216M		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	216					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGCAGACAAGAATGAGATT	0.383000													13	33					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:96180332G>A	ENST00000402399.1	-	1	201	c.72C>T	c.(70-72)ttC>ttT	p.F24F	TCL1A_ENST00000556450.1_Silent_p.F24F|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Silent_p.F24F|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Silent_p.F24F	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	24					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL								45	67					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95580899	95580899	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:95580899A>C	ENST00000393223.3	-	12	1604	c.942T>G	c.(940-942)acT>acG	p.T314T	MTMR2_ENST00000352297.7_Silent_p.T314T|MTMR2_ENST00000346299.5_Silent_p.T386T|MTMR2_ENST00000409459.1_Silent_p.T314T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	386	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTAGCCAATGAGTAGATTCCA	0.358000													4	46					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141200149	141200149	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141200149C>T	ENST00000389484.3	-	66	11309	c.10338G>A	c.(10336-10338)acG>acA	p.T3446T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3446	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCAATGCTTCGTAGTCTTAC	0.428000										TSP Lung(27;0.18)			19	50					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45959103	45959103	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45959103C>T	ENST00000402984.3	+	16	2226	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.S670F|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	689					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACCGTCAGCTCCTTTGTGGCC	0.622000													51	52					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42453969	42453969	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42453969G>A	ENST00000318006.5	-	24	2625	c.2463C>T	c.(2461-2463)gtC>gtT	p.V821V	VPS39_ENST00000348544.4_Silent_p.V832V	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	832					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCTCTTCCTGGACCTGGAAGA	0.517000													36	52					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174572	150174572	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150174572G>A	ENST00000307271.3	+	5	2276	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	568						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CACCCGGAAGGAAGACCTAGG	0.488000													37	74					0	0	1	0	0
LINC00639	283547	broad.mit.edu	37	14	39304838	39304838	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39304838G>A	ENST00000553932.1	-	0	3724																											CTTTTCAGAGGAAGAAACCCT	0.483000													6	14					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902261	16902261	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16902261G>A	ENST00000310398.2	-	4	269	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	AGR3_ENST00000402239.3_Missense_Mutation_p.H67Y	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	67						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCCTCCAGGTGATGAATAACC	0.284000													28	34					0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35742765	35742765	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:35742765A>C	ENST00000557565.1	+	8	2126	c.1745A>C	c.(1744-1746)aAg>aCg	p.K582T	KIAA0391_ENST00000604948.1_Missense_Mutation_p.K487T|KIAA0391_ENST00000534898.4_Missense_Mutation_p.K582T|KIAA0391_ENST00000321130.10_Missense_Mutation_p.K566T|KIAA0391_ENST00000250377.7_Missense_Mutation_p.K487T|KIAA0391_ENST00000605870.1_Missense_Mutation_p.K210T|KIAA0391_ENST00000603544.1_Missense_Mutation_p.K566T			O15091	MRRP3_HUMAN	KIAA0391	582					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTCCACCAAAAGACATAGAGA	0.453000													7	15					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62995963	62995963	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62995963C>T	ENST00000306494.6	-	2	475	c.476G>A	c.(475-477)gGa>gAa	p.G159E	SLC22A25_ENST00000403374.2_5'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	159					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGGTTGCCTCCCACCATCAT	0.413000													31	45					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46845161	46845161	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:46845161A>C	ENST00000218343.4	+	3	392	c.94A>C	c.(94-96)Aaa>Caa	p.K32Q	PHF16_ENST00000397189.1_Missense_Mutation_p.K32Q	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		32					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.K32E(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GATCAAGTCAAAAATTCCAAA	0.348000													4	15					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467099	10467099	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:10467099G>A	ENST00000382483.3	-	4	4732	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1503					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCACCGAAGAGCTCCTCTCTG	0.647000													26	80					0	0	1	0	0
SEBOX	645832	broad.mit.edu	37	17	26691945	26691945	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26691945T>C	ENST00000536498.1	-	9	1536	c.139A>G	c.(139-141)Aag>Gag	p.K47E	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_Missense_Mutation_p.K47E|SEBOX_ENST00000431468.1_Missense_Mutation_p.K48E			Q9HB31	SEBOX_HUMAN	SEBOX homeobox	48					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTGGTCCGCTTTCTCCGGTGG	0.637000													4	21					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233350730	233350730	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233350730C>T	ENST00000304546.1	-	2	844	c.634G>A	c.(634-636)Gac>Aac	p.D212N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D212N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	212					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGCCCAGGTCCCAGCCCCCG	0.711000													13	7					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305469	48305469	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48305469C>T	ENST00000535759.1	-	4	1089	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	TPRX1_ENST00000322175.3_Missense_Mutation_p.G267S|TPRX1_ENST00000543508.1_Missense_Mutation_p.G257S			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GGAATCGGGCCTATAATtggg	0.657000													16	20					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155784240	155784240	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155784240T>C	ENST00000437809.1	-	9	1284	c.1161_splice	c.e9-1	p.S388_splice	GON4L_ENST00000361040.5_Splice_Site_p.S388_splice|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Splice_Site_p.S388_splice|GON4L_ENST00000368331.1_Splice_Site_p.S388_splice			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	388					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCAATAAGCTCTACAAAATA	0.398000													12	82					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129770	1129770	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1129770C>T	ENST00000293897.4	+	1	990	c.902C>T	c.(901-903)cCc>cTc	p.P301L	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.P301L	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	301					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGTGCCAACCCCGTCCTCTAC	0.637000													36	14					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376579	200376579	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200376579A>G	ENST00000294740.2	-	2	2379	c.2255T>C	c.(2254-2256)tTg>tCg	p.L752S	ZNF281_ENST00000367353.1_Missense_Mutation_p.L752S|ZNF281_ENST00000367352.3_Missense_Mutation_p.L716S	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	752					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTAGCATCCAAAGCAGACAA	0.463000													12	37					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656812	31656812	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31656812T>G	ENST00000375842.4	-	13	1495	c.509A>C	c.(508-510)aAg>aCg	p.K170T	ABHD16A_ENST00000440843.2_Missense_Mutation_p.K356T|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.K389T			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	389						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TGGCATGACCTTCAAGGCCAA	0.597000													10	33					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38178480	38178480	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:38178480C>T	ENST00000407257.1	+	2	269	c.122C>T	c.(121-123)tCt>tTt	p.S41F	RMDN2_ENST00000234195.3_Missense_Mutation_p.S41F|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Missense_Mutation_p.S41F|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000406384.1_Intron					regulator of microtubule dynamics 2																		CCAAGTATATCTCTTGGTCAT	0.413000													38	21					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600151	141600151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:141600151G>A	ENST00000442267.2	-	5	870	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	266						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGCAGGGATCGATCTTGTTCA	0.423000													72	45					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690432	99690432	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:99690432G>A	ENST00000524871.1	+	4	503	c.213G>A	c.(211-213)ggG>ggA	p.G71G	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Silent_p.G71G|CNTN5_ENST00000527185.1_Silent_p.G71G|CNTN5_ENST00000279463.3_Silent_p.G71G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	71					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTGGCTAGGGGCAGCTCAGA	0.433000													7	5					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567379	5567379	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5567379A>G	ENST00000315238.1	+	1	456	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	111	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						ACACGTCATGACCCGGCTGGG	0.647000													4	62					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121220504	121220504	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:121220504T>C	ENST00000297848.3	+	11	1495	c.1225T>C	c.(1225-1227)Ttg>Ctg	p.L409L	COL14A1_ENST00000537875.1_Silent_p.L409L|COL14A1_ENST00000309791.4_Silent_p.L409L|COL14A1_ENST00000247781.3_Silent_p.L314L|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	409	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCCACAGTGTTGAAAAACTT	0.388000													11	13					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114256951	114256951	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:114256951G>A	ENST00000306507.5	+	1	291	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	40					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						agacgaggtggaagacgagga	0.657000													28	18					0	0	1	0	0
C6orf47	57827	broad.mit.edu	37	6	31627330	31627330	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31627330G>A	ENST00000375911.1	-	1	1219	c.395C>T	c.(394-396)cCt>cTt	p.P132L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	132										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TCCCCCTTCAGGGGACACCCC	0.632000													33	41					0	0	1	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552532	106552532	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106552532G>A	ENST00000390600.2	-	0	186																											GAGTCTCAGGGACCTGCCAGG	0.577000													33	3					0	0	1	0	0
OSTM1	28962	broad.mit.edu	37	6	108370531	108370531	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:108370531A>C	ENST00000193322.3	-	5	960	c.875T>G	c.(874-876)aTt>aGt	p.I292S		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	292						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		TAGAAAGAGAATGAACACAGA	0.378000													4	39					0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16255803	16255803	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16255803T>G	ENST00000407010.2	-	9	1138	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	AC004741.3_ENST00000582683.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.K330T|AC004741.3_ENST00000438573.1_RNA|AC004741.3_ENST00000579293.1_RNA|AC004741.3_ENST00000457112.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	380					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGGTACTAATTTAAAATCAAG	0.303000										Multiple Myeloma(15;0.18)			3	9					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176637326	176637326	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176637326T>A	ENST00000439151.2	+	5	1971	c.1926T>A	c.(1924-1926)tcT>tcA	p.S642S	NSD1_ENST00000347982.4_Silent_p.S373S|NSD1_ENST00000354179.4_Silent_p.S373S|NSD1_ENST00000361032.4_Silent_p.S539S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	642					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTACCACTTCTGATGATGGAA	0.448000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	36					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072515	17072515	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:17072515T>C	ENST00000359963.3	-	1	1185	c.926A>G	c.(925-927)aAg>aGg	p.K309R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	309					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATGCCATACTTGTCCGCCAG	0.537000													53	182					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5642993	5642993	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5642993A>G	ENST00000382361.3	+	2	1052	c.938A>G	c.(937-939)aAg>aGg	p.K313R	FSCN1_ENST00000340250.6_Missense_Mutation_p.K292R	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	313					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CACACGGGCAAGTACTGGACG	0.652000													10	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616465	179616465	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179616465A>G	ENST00000360870.5	-	46	10884	c.10662T>C	c.(10660-10662)gcT>gcC	p.A3554A	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3553	Ig-like 21.						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)			AATCACTCTCAGCTTTTATAA	0.393000													15	40					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82039955	82039955	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:82039955A>G	ENST00000372213.3	-	5	783	c.523T>C	c.(523-525)Tgg>Cgg	p.W175R		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	175					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGCCGCAGCCAGGGGAGGAGG	0.567000													27	35					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567000													4	13					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976675	119976675	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:119976675C>T	ENST00000313400.4	-	3	1077	c.977G>A	c.(976-978)gGa>gAa	p.G326E	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.G326E|ASTN2_ENST00000373996.3_Missense_Mutation_p.G326E			O75129	ASTN2_HUMAN	astrotactin 2	326						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCCTGGATGTCCCAGACTGTC	0.557000													72	35					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055948	167055948	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167055948G>A	ENST00000303354.6	-	27	5544	c.5204C>T	c.(5203-5205)tCt>tTt	p.S1735F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1723F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1735F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1734F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1734						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TATTCCAACAGATGGGTTACC	0.408000													132	80					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41493909	41493909	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:41493909T>G	ENST00000402904.2	-	16	2308	c.1940A>C	c.(1939-1941)aAg>aCg	p.K647T	SCMH1_ENST00000372597.1_Missense_Mutation_p.K578T|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000326197.7_Missense_Mutation_p.K647T|SCMH1_ENST00000397174.2_Missense_Mutation_p.K605T|SCMH1_ENST00000372596.1_Missense_Mutation_p.K564T|SCMH1_ENST00000361705.3_Missense_Mutation_p.K578T|SCMH1_ENST00000372595.1_Missense_Mutation_p.K586T|SCMH1_ENST00000456518.2_Missense_Mutation_p.K467T|SCMH1_ENST00000361191.5_Missense_Mutation_p.K564T|SCMH1_ENST00000397171.2_Missense_Mutation_p.K564T|SCMH1_ENST00000337495.5_Missense_Mutation_p.K635T	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	647	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTAGGAGAGCTTGAGTGCAGG	0.592000													4	115					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977848	70977848	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:70977848G>A	ENST00000393567.2	-	42	6686	c.6536C>T	c.(6535-6537)tCc>tTc	p.S2179F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2179										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGCTGgaggaaatctgttg	0.567000													4	2					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063986	9063986	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9063986C>T	ENST00000397910.4	-	3	23663	c.23460G>A	c.(23458-23460)agG>agA	p.R7820R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7822	Ser-rich.|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						CTGTCTGAATCCTCCTAGTCT	0.542000													35	83					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307482	54307482	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:54307482C>T	ENST00000545554.1	+	1	2382	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	UNC13C_ENST00000260323.11_Silent_p.F794F|UNC13C_ENST00000537900.1_Silent_p.F794F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	794					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTTCAGCTTCCCAAAATTTG	0.438000													17	3					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814460	137814460	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:137814460C>T	ENST00000409968.1	+	3	788	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	THSD7B_ENST00000543459.1_Missense_Mutation_p.R63C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R173C|THSD7B_ENST00000272643.3_Missense_Mutation_p.R204C					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCATAGAACTCGCGCGGTCAT	0.507000													100	45					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727880	69727880	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:69727880T>G	ENST00000349945.1	+	14	5422	c.3870T>G	c.(3868-3870)agT>agG	p.S1290R	NFAT5_ENST00000566899.1_Missense_Mutation_p.S1290R|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1384R|NFAT5_ENST00000354436.2_Missense_Mutation_p.S1366R|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1290R|NFAT5_ENST00000567239.1_Missense_Mutation_p.S1383R	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1366					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGTCACCTAGTTCTCAAGAGC	0.458000													4	55					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:171178045C>T	ENST00000441535.1	+	9	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	FMO2_ENST00000209929.7_Missense_Mutation_p.P457S|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	457					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCAAAGATCCTAAACTGGC	0.502000													122	180					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	431722	431722	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:431722A>C	ENST00000399788.2	-	17	2649	c.2287T>G	c.(2287-2289)Ttg>Gtg	p.L763V	KDM5A_ENST00000382815.4_Missense_Mutation_p.L763V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	763					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						ATTACTCGCAATTCAATCAAA	0.378000			T	NUP98	AML								25	62					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369317	86369317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:86369317C>A	ENST00000400286.2	-	2	1925	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	443						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCATTGTATTCAAGATATAAG	0.353000													8	34					0.000442599	0.000443016	1	1	0
CCDC170	80129	broad.mit.edu	37	6	151894335	151894335	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:151894335A>G	ENST00000367290.5	+	6	890	c.801A>G	c.(799-801)aaA>aaG	p.K267K	CCDC170_ENST00000239374.7_Silent_p.K267K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	267																	TAGAAGCAAAAGAAGCTCTTG	0.448000													11	18					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149792249	149792249	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149792249C>T	ENST00000353334.6	-	1	243	c.64G>A	c.(64-66)Gac>Aac	p.D22N	CD74_ENST00000009530.7_Missense_Mutation_p.D22N|CD74_ENST00000524315.1_Missense_Mutation_p.D22N|CD74_ENST00000377795.3_Missense_Mutation_p.D22N	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	22					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGATAAGGTCGCGCTGGTCA	0.617000			T	ROS1	NSCLC								63	75					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31004745	31004745	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31004745C>T	ENST00000215095.5	-	8	829	c.598G>A	c.(598-600)Gag>Aag	p.E200K	STX1B_ENST00000565419.1_Missense_Mutation_p.E200K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	200	t-SNARE coiled-coil homology.				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTGATGATCTCATTGTGCCTC	0.542000													46	19					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334271	108334271	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:108334271C>T	ENST00000520734.1	-	3	346	c.61G>A	c.(61-63)Ggc>Agc	p.G21S	ANGPT1_ENST00000520052.1_Missense_Mutation_p.G21S			Q15389	ANGP1_HUMAN	angiopoietin 1	221					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTAACCAAGCCTTGAAGGTTC	0.393000													31	24					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762083	101762083	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101762083T>G	ENST00000334289.3	-	9	1689	c.1094A>C	c.(1093-1095)aAa>aCa	p.K365T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	365	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGAGTTGTTTTTGGTCCACGT	0.358000													23	24					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72410592	72410592	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72410592T>G	ENST00000359373.5	-	17	3159	c.2308A>C	c.(2308-2310)Agc>Cgc	p.S770R	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.S530R|ARAP1_ENST00000393609.3_Missense_Mutation_p.S770R|ARAP1_ENST00000455638.2_Missense_Mutation_p.S770R|ARAP1_ENST00000426523.1_Missense_Mutation_p.S525R|ARAP1_ENST00000334211.8_Missense_Mutation_p.S525R|ARAP1_ENST00000429686.1_Missense_Mutation_p.S464R			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	770	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CAGCGCCGGCTGAACTCTGGG	0.622000													3	15					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150075217	150075217	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150075217T>G	ENST00000199814.4	-	7	718	c.597A>C	c.(595-597)aaA>aaC	p.K199N	RBM22_ENST00000447771.2_Missense_Mutation_p.K150N|RBM22_ENST00000540000.1_Missense_Mutation_p.K150N	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	199					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATAACGGTCTTTAATATTCT	0.428000													9	20					0	0	1	0	0
DEFB127	140850	broad.mit.edu	37	20	138197	138197	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:138197C>T	ENST00000382388.3	+	1	87	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	4					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGGGGCTCTTCATGATCATTG	0.473000													60	42					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3019712	3019712	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3019712G>A	ENST00000520002.1	-	39	6371	c.5816C>T	c.(5815-5817)tCc>tTc	p.S1939F	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1938F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1938F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1939F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1938F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1939F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1939F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1939	Sushi 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACTGGAAGGAGAGCACGTC	0.507000													6	8					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515325	56515325	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56515325G>A	ENST00000390649.3	+	2	306	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	102	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGAAATCGAGAATGCCAACG	0.428000													13	72					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169423113	169423113	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:169423113A>G	ENST00000256935.8	+	30	3097	c.3017A>G	c.(3016-3018)aAg>aGg	p.K1006R	DOCK2_ENST00000520908.1_Missense_Mutation_p.K498R|DOCK2_ENST00000540750.1_Missense_Mutation_p.K67R|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1006	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTATCAACAAGTTTGCAGAA	0.478000													7	25					0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156552851	156552851	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156552851T>C	ENST00000368236.3	+	4	964	c.928T>C	c.(928-930)Tgg>Cgg	p.W310R	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.W310R	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	310							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCAGCGGTGGGAGCAGGG	0.647000													4	66					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079124	20079124	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:20079124T>C	ENST00000351989.3	+	6	1902	c.1473T>C	c.(1471-1473)acT>acC	p.T491T	DGCR8_ENST00000407755.1_Silent_p.T491T|DGCR8_ENST00000383024.2_Silent_p.T491T	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	491	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCTCATTACTTTATCAGTGC	0.483000													11	241					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:113657364C>T	ENST00000297405.5	-	20	3528	c.3284G>A	c.(3283-3285)tGg>tAg	p.W1095*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1095*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W991*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1055*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1095	CUB 6.					integral to membrane|plasma membrane		p.W1095*(2)|p.W1055*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAACAGTCCATGTACAATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	6					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912484	34912484	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:34912484C>T	ENST00000246535.3	+	6	905	c.858C>T	c.(856-858)ctC>ctT	p.L286L	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	286						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCACCGAGCTCCCAGCCTGCA	0.512000													107	108					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48923052	48923052	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48923052C>T	ENST00000263269.3	+	9	2160	c.2072C>T	c.(2071-2073)tCt>tTt	p.S691F		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	691						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GATACTGTGTCTGGGCTCAGT	0.612000													55	51					0	0	1	0	0
PIGH	5283	broad.mit.edu	37	14	68060599	68060599	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68060599T>A	ENST00000216452.4	-	2	334	c.251A>T	c.(250-252)aAg>aTg	p.K84M	PIGH_ENST00000560722.1_Missense_Mutation_p.K84M|PIGH_ENST00000559581.1_Intron	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	84					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		CTGATCAATCTTCACAAAATG	0.438000													5	18					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84627738	84627738	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:84627738A>G	ENST00000369681.4	+	6	600	c.460A>G	c.(460-462)Agc>Ggc	p.S154G		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	154					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GCTTCCCAAGAGCCAAGTGAC	0.294000													16	33					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671022	28671022	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28671022G>A	ENST00000280904.6	-	4	886	c.443C>T	c.(442-444)tCc>tTc	p.S148F	DSC2_ENST00000251081.6_Missense_Mutation_p.S148F	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	148	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGGACCCAAGGAGTTTTCTAG	0.403000													21	4					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24164407	24164407	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:24164407G>A	ENST00000396671.2	-	11	1702	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	THRB_ENST00000416420.1_Missense_Mutation_p.P452S|THRB_ENST00000280696.5_Missense_Mutation_p.P467S|THRB_ENST00000356447.4_Missense_Mutation_p.P452S	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	452	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AACAAAGGGGGGAAGAGTTCT	0.498000													39	73					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79572009	79572009	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:79572009G>A	ENST00000372391.2	-	21	4157	c.4152C>T	c.(4150-4152)caC>caT	p.H1384H	DLG5_ENST00000372388.2_Silent_p.H1044H|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1384	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGCCAGCCTGGTGAGCGATGC	0.617000													39	6					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157816030	157816030	+	Missense_Mutation	SNP	T	T	C	rs139394762		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:157816030T>C	ENST00000490689.2	-	5	1892	c.359A>G	c.(358-360)cAc>cGc	p.H120R	SHOX2_ENST00000389589.4_Missense_Mutation_p.H285R|SHOX2_ENST00000483851.2_Missense_Mutation_p.H249R|SHOX2_ENST00000441443.2_Missense_Mutation_p.H120R|SHOX2_ENST00000425436.3_Missense_Mutation_p.H261R			O60902	SHOX2_HUMAN	short stature homeobox 2	261					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGGTGGTGGTGCGCGTGCGC	0.642000													18	151					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170031	118170031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:118170031C>T	ENST00000427715.2	+	7	807	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	SLC30A8_ENST00000519688.1_Nonsense_Mutation_p.Q125*|SLC30A8_ENST00000456015.2_Nonsense_Mutation_p.Q174*|SLC30A8_ENST00000521243.1_Nonsense_Mutation_p.Q125*	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	174					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTACCAGATCCAGGCGACTGT	0.567000													81	66					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18845470	18845470	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:18845470C>T	ENST00000361511.4	+	19	2321	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	PPEF1_ENST00000349874.5_Silent_p.S547S|PPEF1_ENST00000359763.6_Silent_p.S556S|PPEF1_ENST00000544635.1_Silent_p.S544S|PPEF1_ENST00000543630.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	609	EF-hand 3.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTGATGATTCCCAAGTCAATA	0.368000													46	0					0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96070077	96070077	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:96070077A>C	ENST00000396113.1	+	15	1688	c.638A>C	c.(637-639)gAt>gCt	p.D213A	NDUFAF6_ENST00000542894.1_Missense_Mutation_p.D253A|NDUFAF6_ENST00000286687.4_Intron|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.D213A|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.D305A			Q330K2	CH038_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	305					biosynthetic process	mitochondrion	transferase activity										CAGCGAGTGGATTTTGATATA	0.289000													4	13					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972669	35972669	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35972669T>G	ENST00000325722.3	-	3	444	c.210A>C	c.(208-210)gaA>gaC	p.E70D		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	70	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAGGTGATTTTCTCCCCCAG	0.507000													5	192					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504337	16504337	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:16504337G>A	ENST00000304523.5	-	8	1374	c.1051C>T	c.(1051-1053)Ccg>Tcg	p.P351S	LDB2_ENST00000515064.1_Missense_Mutation_p.P349S|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	351							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTGTTCCACGGGCTGTTGTTC	0.517000													124	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497142	179497142	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179497142T>C	ENST00000589042.1	-	236	43705		c.e236-2		TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			GCCGGATTCCTATCAAGAAAA	0.338000													4	10					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504634	151504634	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:151504634G>A	ENST00000317605.4	+	1	1558	c.453G>A	c.(451-453)atG>atA	p.M151I	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	151					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGGTCAAGATGATCGCGGACA	0.627000													18	66					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6252913	6252913	+	Missense_Mutation	SNP	G	G	A	rs140515272		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:6252913G>A	ENST00000381434.3	+	4	404	c.391G>A	c.(391-393)Gat>Aat	p.D131N	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	131					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CACATACAATGATCAATCCAT	0.303000													21	15					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168135060	168135060	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:168135060G>A	ENST00000519560.1	-	26	3184	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F	SLIT3_ENST00000404867.3_Missense_Mutation_p.S922F|CTC-558O2.1_ENST00000521870.1_RNA|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.S929F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	922	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACGGGCTGGAGAGGCAGGC	0.592000													17	20					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602433	64602433	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64602433A>C	ENST00000342711.5	-	18	2062	c.2063T>G	c.(2062-2064)gTg>gGg	p.V688G		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	688					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTCATCATTCACCCTGAATGG	0.637000													11	56					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300064	112300064	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:112300064T>A	ENST00000492406.1	+	6	1383	c.1100T>A	c.(1099-1101)cTt>cAt	p.L367H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	367						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCATCAGTCCTTCTCTCTATA	0.468000													28	24					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580928	140580928	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140580928C>T	ENST00000354757.3	+	1	1581	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	PCDHB11_ENST00000536699.1_Silent_p.F162F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCTTTCGACTTCCGCG	0.677000													34	55					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31343037	31343037	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:31343037T>C	ENST00000225823.2	-	9	2414	c.1542A>G	c.(1540-1542)ttA>ttG	p.L514L	ASIC2_ENST00000359872.6_Silent_p.L463L	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	463					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CAAGCAGGTCTAATAGCTTCT	0.552000													18	41					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073460	134073460	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:134073460C>T	ENST00000359428.5	+	29	4723	c.4579C>T	c.(4579-4581)Ccc>Tcc	p.P1527S	NUP214_ENST00000483497.2_Missense_Mutation_p.P353S|NUP214_ENST00000451030.1_Missense_Mutation_p.P1528S|NUP214_ENST00000411637.2_Missense_Mutation_p.P1517S			P35658	NU214_HUMAN	nucleoporin 214kDa	1527	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGCCCAGCTTCCCCAGGCTCC	0.527000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								15	52					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:52645101G>A	ENST00000395961.3	-	4	719	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	BCAS1_ENST00000371440.3_Missense_Mutation_p.P185S|BCAS1_ENST00000411563.1_Missense_Mutation_p.P88S|BCAS1_ENST00000371435.2_Missense_Mutation_p.P185S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	185						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592000													66	72					0	0	1	0	0
C1orf200	644997	broad.mit.edu	37	1	9714466	9714466	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9714466A>C	ENST00000377320.3	-	1	178	c.29T>G	c.(28-30)cTt>cGt	p.L10R	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron					chromosome 1 open reading frame 200											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTGTGCTAAGAACAGGGCA	0.587000													15	94					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691601	31691601	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31691601C>T	ENST00000375809.3	+	2	258	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	C6orf25_ENST00000375810.4_Missense_Mutation_p.R83C|C6orf25_ENST00000480039.1_Missense_Mutation_p.R83C|C6orf25_ENST00000375805.2_Missense_Mutation_p.R83C	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	83						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTTCGTCGGCCGCCTACGCTC	0.682000													69	80					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527138	7527138	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7527138C>T	ENST00000313599.3	-	13	3366	c.3309G>A	c.(3307-3309)ctG>ctA	p.L1103L	CD163L1_ENST00000416109.2_Silent_p.L1113L|CD163L1_ENST00000396630.1_Silent_p.L1103L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1103	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTGTGCAGTTCAGGTCATCCA	0.627000													45	44					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67102350	67102350	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67102350A>C	ENST00000284425.2	-	19	2566	c.2392T>G	c.(2392-2394)Ttc>Gtc	p.F798V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	798					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTGTTCGAAATCTATAAAC	0.373000													13	25					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117182070	117182070	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117182070G>A	ENST00000003084.6	+	9	1249	c.1116_splice	c.e9-1	p.D373_splice	CFTR_ENST00000454343.1_Splice_Site_p.D373_splice	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	373					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTATAAATAGGATTTCTTACA	0.308000									Cystic Fibrosis				13	14					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647308	33647308	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:33647308G>A	ENST00000558425.1	-	2	291	c.292C>T	c.(292-294)Ccg>Tcg	p.P98S																								TGCAGATACGGTGAGTTATTG	0.498000													117	2					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7179829	7179829	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:7179829C>T	ENST00000320892.6	+	9	1259	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S		NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	273						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CCTGGCCACTCCCTTTGTACT	0.537000													31	54					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946640	70946640	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:70946640T>A	ENST00000334414.6	-	21	5348	c.5304A>T	c.(5302-5304)gcA>gcT	p.A1768A	PTPRB_ENST00000451516.2_Silent_p.A1460A|PTPRB_ENST00000538708.1_Silent_p.A1460A|PTPRB_ENST00000261266.5_Silent_p.A1550A|PTPRB_ENST00000550857.1_Silent_p.A1460A|PTPRB_ENST00000550358.1_Silent_p.A1680A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1550	Tyrosine-protein phosphatase.				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)			TCTCCATCTCTGCTCCAAGCT	0.438000													52	41					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120355	38120355	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38120355C>T	ENST00000406386.3	+	7	2047	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	598					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.N597fs*18(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACGAGACAACCCCACAACATC	0.582000													47	94					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933502	94933502	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94933502C>T	ENST00000337425.5	-	3	974	c.900G>A	c.(898-900)ctG>ctA	p.L300L	SERPINA9_ENST00000546329.1_Silent_p.L264L|SERPINA9_ENST00000380365.3_Silent_p.L282L|SERPINA9_ENST00000424550.2_Silent_p.L151L|SERPINA9_ENST00000448305.2_Silent_p.L202L|SERPINA9_ENST00000298845.7_Silent_p.L200L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	282					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGGCCTGTTCCAGTTGCCTCA	0.552000													40	42					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46508218	46508218	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:46508218C>T	ENST00000328306.4	-	11	1387	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	454					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CGGCTCTGCCCAGGAAGATGG	0.488000													29	0					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119631642	119631642	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:119631642G>A	ENST00000264235.8	-	6	1606	c.624C>T	c.(622-624)gtC>gtT	p.V208V	GSK3B_ENST00000316626.5_Silent_p.V208V	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	208	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTTCTCCTCGGACCAGCTGCT	0.363000													29	0					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036066	57036066	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:57036066C>T	ENST00000371149.3	-	4	1516	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	APCDD1L_ENST00000439429.1_Missense_Mutation_p.G440E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	429						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGGCCTTTGTCCGATGAAGAG	0.612000													28	108					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815409	2815409	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2815409C>T	ENST00000301740.8	+	11	5429	c.4880C>T	c.(4879-4881)cCa>cTa	p.P1627L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1627	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTAAAGCTCCAGCCCCTCGG	0.567000													13	33					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127245121	127245121	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127245121C>T	ENST00000373588.4	-	7	1498	c.1302G>A	c.(1300-1302)aaG>aaA	p.K434K		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	434	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						ACAGGTACTCCTTGGCCTGCA	0.622000													14	16					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122319727	122319727	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:122319727C>T	ENST00000264357.5	+	2	445	c.153C>T	c.(151-153)ttC>ttT	p.F51F	GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371266.1_Silent_p.F51F|GRIA3_ENST00000371251.1_Silent_p.F51F|GRIA3_ENST00000371256.5_Silent_p.F51F|GRIA3_ENST00000371264.3_Silent_p.F51F|GRIA3_ENST00000542149.1_Silent_p.F51F|GRIA3_ENST00000541091.1_Silent_p.F35F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	51					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAGCGCTTTCCGCTTTGCCG	0.478000													18	11					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981008	61981008	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61981008G>A	ENST00000370263.4	-	5	1976	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	585					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACTTACCGAGAAGTCTGTGT	0.677000													59	57					0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98274904	98274904	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:98274904G>A	ENST00000289228.5	-	6	859	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	215						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TTGATTGTCCGGACAACCTCA	0.622000													9	18					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752073	140752073	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140752073C>T	ENST00000576222.1	+	1	2243	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTTCCTCCTCGCGGTGA	0.587000													28	33					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179314	87179314	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:87179314G>A	ENST00000265724.3	-	14	1824	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	ABCB1_ENST00000543898.1_Silent_p.I405I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	469	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCACACCAATGATTTCCCGTA	0.398000													44	64					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94134742	94134742	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:94134742C>T	ENST00000515393.1	-	18	2531	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000505078.1_Silent_p.G360G|MCTP1_ENST00000312216.8_Silent_p.G623G	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	844					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTTATCTTTCCCTGATATTA	0.368000													8	14					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196577387	196577387	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196577387C>T	ENST00000367433.5	-	1	154	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.R18Q|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R18Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	18						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAATCTCGAAACCTGTA	0.493000													39	60					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175710078	175710078	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:175710078C>T	ENST00000274093.3	-	2	590	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	GLRA3_ENST00000340217.5_Missense_Mutation_p.E30K	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	30					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTGTCTGTTTCCTTTGTGGCA	0.338000													9	18					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664558	50664558	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50664558G>A	ENST00000439308.2	-	9	2246	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P585L|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	585					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGAAACACGGGAACACAGTC	0.552000													124	147					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6750052	6750052	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6750052T>G	ENST00000600428.1	+	11	1524	c.878T>G	c.(877-879)cTg>cGg	p.L293R	TRIP10_ENST00000596758.1_Missense_Mutation_p.L401R|TRIP10_ENST00000313285.8_Missense_Mutation_p.L401R|TRIP10_ENST00000313244.9_Missense_Mutation_p.L457R|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	457	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ATTGAACGGCTGAAATTGGAA	0.587000													16	85					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103704	125103704	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:125103704G>A	ENST00000522917.1	+	34	4638	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E1478K|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1478						integral to membrane		p.E1478K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAACCCACCGAAATCCTCAC	0.448000													41	61					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41553271	41553271	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:41553271T>C	ENST00000263253.7	+	18	4579	c.3360T>C	c.(3358-3360)gaT>gaC	p.D1120D		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1120	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGTCGATGATATTTGGCTTA	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				3	45					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416260	178416260	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:178416260T>G	ENST00000408939.2	-	1	1482	c.1232A>C	c.(1231-1233)aAg>aCg	p.K411T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	411					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ATTCACTGCCTTTTTGATAGC	0.413000													12	159					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6670910	6670910	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6670910G>A	ENST00000541778.1	-	11	1603	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	NOP2_ENST00000545200.1_Missense_Mutation_p.P372L|NOP2_ENST00000537442.1_Missense_Mutation_p.P376L|NOP2_ENST00000322166.5_Missense_Mutation_p.P376L|NOP2_ENST00000399466.2_Missense_Mutation_p.P372L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.P409L			P46087	NOP2_HUMAN	NOP2 nucleolar protein	376					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGCCATGACGGGCAACATGCT	0.612000													8	17					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135851207	135851207	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:135851207A>G	ENST00000264158.8	+	5	349	c.306A>G	c.(304-306)caA>caG	p.Q102Q	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.Q102Q|RAB3GAP1_ENST00000539493.1_Silent_p.Q58Q	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	102						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.Q102H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AATCTATGCAAGATTTGCTGG	0.353000													25	60					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646462	57646462	+	Missense_Mutation	SNP	C	C	T	rs143651711		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57646462C>T	ENST00000269834.1	-	5	1628	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCTCTCTCCGCTATGAGTT	0.378000													31	213					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576146	20576146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:20576146G>A	ENST00000329697.6	-	2	190	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.Q8*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.Q8*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.Q8*|ACSM2B_ENST00000565322.1_Intron	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	8					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAAAGTCCCTGAACTTTTCGC	0.502000													16	22					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55942362	55942362	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55942362C>T	ENST00000244728.5	-	18	2219	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G605R|COL21A1_ENST00000370808.2_Missense_Mutation_p.G8R|COL21A1_ENST00000535941.1_Missense_Mutation_p.G608R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	608	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCAGGAAATCCTGGGATTCCC	0.328000													9	6					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1573646	1573646	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:1573646G>A	ENST00000426508.2	-	26	3689	c.3326C>T	c.(3325-3327)gCc>gTc	p.A1109V	IFT140_ENST00000361339.5_Missense_Mutation_p.A303V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1109										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GAGCTGTAGGGCCACAAACTG	0.647000													15	45					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37295899	37295899	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37295899A>C	ENST00000233099.5	-	8	1197	c.1102T>G	c.(1102-1104)Ttg>Gtg	p.L368V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L368V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	368							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCACCTAGCAAACTGCCCACA	0.448000													4	40					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452723	58452723	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:58452723G>A	ENST00000282308.3	-	3	1649	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	485					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GCTCCAGTATGAACTTTCCAG	0.453000													30	71					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105280195	105280195	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:105280195G>A	ENST00000258538.3	-	5	1030	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	301						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTGAACCAACGATAACCCCAA	0.358000													31	2					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731937	94731937	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:94731937C>T	ENST00000335080.5	+	3	2233	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	KDM4D_ENST00000536741.1_Silent_p.L467L	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCTGACCCTCCAGACTCCAG	0.602000													36	2					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13752033	13752033	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:13752033A>C	ENST00000202816.1	-	6	1454	c.1347T>G	c.(1345-1347)atT>atG	p.I449M		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AATCCTCATAAATTTTACTAG	0.333000													5	141					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	815780	815780	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:815780G>A	ENST00000566549.1	+	10	1302	c.885G>A	c.(883-885)cgG>cgA	p.R295R	MSLN_ENST00000563941.1_Silent_p.R295R|MSLN_ENST00000545450.2_Silent_p.R295R|MSLN_ENST00000382862.3_Silent_p.R295R			Q13421	MSLN_HUMAN	mesothelin	295					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGTTCCGGCGGGAAGTGGAGA	0.701000													14	11					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127758	117127758	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117127758A>G	ENST00000310357.3	-	3	1131	c.1110T>C	c.(1108-1110)acT>acC	p.T370T	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.T370T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	370					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTCAAATCAGTGTCCTTGA	0.403000													19	19					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38060914	38060914	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:38060914G>A	ENST00000250448.2	-	2	1136	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	FOXA1_ENST00000540786.1_Missense_Mutation_p.P326S|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	359					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGCTTATGGGGGGCGCAGTT	0.731000													5	5					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033984	52033984	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52033984G>A	ENST00000346477.3	-	3	725	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SIGLEC6_ENST00000436458.1_Silent_p.F183F|SIGLEC6_ENST00000391797.3_Silent_p.F208F|SIGLEC6_ENST00000359982.4_Silent_p.F219F|SIGLEC6_ENST00000343300.4_Silent_p.F219F|SIGLEC6_ENST00000425629.3_Silent_p.F219F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	219	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGGCTCCAGGGAACGTCACCT	0.667000													67	58					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480192	27480192	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27480192G>A	ENST00000233535.4	-	5	959	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	SLC30A3_ENST00000447008.2_Missense_Mutation_p.P198S	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	203					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGGGGGGCCCAGCCTGG	0.657000													8	4					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22915580	22915580	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22915580T>C	ENST00000166244.3	+	5	1268	c.1196T>C	c.(1195-1197)gTg>gCg	p.V399A	EPHA8_ENST00000374644.4_Missense_Mutation_p.V399A|EPHA8_ENST00000538803.1_Missense_Mutation_p.V399A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	399	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCCTGCTGGTGGCCAACCTG	0.692000													8	31					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129832632	129832632	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129832632G>A	ENST00000397622.2	-	6	727	c.605C>T	c.(604-606)cCg>cTg	p.P202L	TMEM209_ENST00000462753.1_Missense_Mutation_p.P201L|TMEM209_ENST00000336804.8_Missense_Mutation_p.P201L|TMEM209_ENST00000473456.1_Missense_Mutation_p.P202L|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	202	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGTAGGGTACGGAGAAGGAGG	0.408000													19	27					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145662197	145662197	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145662197G>A	ENST00000409379.3	-	15	1862	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	611					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CAGCCACCTCGAAGTGGCCAC	0.682000													66	70					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44047167	44047167	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44047167C>T	ENST00000258704.3	+	5	1070	c.933C>T	c.(931-933)tcC>tcT	p.S311S	AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	311										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						CTTGGGTTTCCCCAGAGGAGT	0.602000													56	81					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619717	37619717	+	Silent	SNP	C	C	T	rs147756598		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37619717C>T	ENST00000337995.3	+	5	2039	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCAGAGAATCCATACTGGTG	0.443000													23	33					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129654	149129654	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:149129654T>G	ENST00000247930.4	-	6	2032	c.1709A>C	c.(1708-1710)aAg>aCg	p.K570T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGCCCCTCCTTGATGTGGTT	0.647000													4	32					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147581	33147581	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33147581T>C	ENST00000360668.3	+	4	1006	c.245T>C	c.(244-246)cTg>cCg	p.L82P	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.L82P|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.L86P			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	82					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TTCTTCCTGCTGGTGAACCAG	0.632000													44	118					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4130766	4130766	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:4130766A>G	ENST00000465828.1	-	4	536	c.251T>C	c.(250-252)tTg>tCg	p.L84S	ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000361538.2_Missense_Mutation_p.L84S|ECI2_ENST00000380118.3_Missense_Mutation_p.L114S|ECI2_ENST00000380125.2_Missense_Mutation_p.L84S|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	114	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ACTGGACACCAAATCCACATA	0.463000													7	56					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843325	4843325	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4843325G>A	ENST00000322110.5	+	1	775	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATCATTCGATCTGTCCTC	0.493000													37	37					0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75399719	75399719	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:75399719G>A	ENST00000359322.4	-	2	421	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	19					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TGAGTTCCATGATCAGCTTGC	0.502000													46	9					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869854	117869854	+	Missense_Mutation	SNP	G	G	A	rs117423374	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117869854G>A	ENST00000227752.3	+	7	1355	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.R263Q|IL10RA_ENST00000541785.1_Missense_Mutation_p.R392Q	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	412						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCTGAGGGCCGGGCTGGGGAC	0.647000													30	2					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72127915	72127915	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:72127915T>G	ENST00000340726.3	-	15	2048	c.1409A>C	c.(1408-1410)gAa>gCa	p.E470A	EYA1_ENST00000303824.7_Missense_Mutation_p.E464A|EYA1_ENST00000419131.1_Missense_Mutation_p.E435A|EYA1_ENST00000388743.2_Missense_Mutation_p.E469A|EYA1_ENST00000388742.4_Missense_Mutation_p.E470A|EYA1_ENST00000388740.3_Missense_Mutation_p.E437A|EYA1_ENST00000388741.2_Missense_Mutation_p.E436A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	470					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGCTTCAATTTCGGCCCTCAA	0.527000													18	44					0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45270718	45270718	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:45270718C>T	ENST00000340827.3	+	7	572	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	185										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TGAAGAAATTCCTTGGGGAGC	0.299000													18	1					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143352383	143352383	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:143352383T>C	ENST00000513000.1	-	5	463	c.30A>G	c.(28-30)gaA>gaG	p.E10E	INPP4B_ENST00000509777.1_Silent_p.E10E|INPP4B_ENST00000262992.4_Silent_p.E10E|INPP4B_ENST00000507861.1_Silent_p.E10E|INPP4B_ENST00000308502.4_Silent_p.E10E|INPP4B_ENST00000506217.1_Silent_p.E10E|INPP4B_ENST00000508116.1_Silent_p.E10E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	10					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCTGCCCTTCTTCTGATGCCC	0.418000													14	28					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32463321	32463321	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32463321A>G	ENST00000404025.2	-	7	2889	c.2401T>C	c.(2401-2403)Ttg>Ctg	p.L801L	NLRC4_ENST00000402280.1_Silent_p.L801L|NLRC4_ENST00000360906.5_Silent_p.L801L|NLRC4_ENST00000342905.6_Silent_p.L136L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	801					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGTCAGACAAGTGGGTCAAA	0.393000													3	59					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52204843	52204843	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:52204843G>A	ENST00000282588.6	+	13	2029	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	524					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGGAGCAAGGAAAAGTGTAT	0.383000													10	15					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99536842	99536842	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:99536842G>A	ENST00000421999.2	+	1	165	c.19G>A	c.(19-21)Gac>Aac	p.D7N	CMSS1_ENST00000496116.1_3'UTR	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		CGATCTCGGAGACGAGTGGTG	0.647000													25	1					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607766	607766	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:607766C>T	ENST00000264555.5	+	14	2438	c.2310C>T	c.(2308-2310)gtC>gtT	p.V770V	PHRF1_ENST00000533464.1_Silent_p.V766V|PHRF1_ENST00000416188.2_Silent_p.V769V|PHRF1_ENST00000413872.2_Silent_p.V768V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	770							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAAAGGGGTCGGGTCGACCT	0.642000													14	14					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441548	99441548	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:99441548T>G	ENST00000287042.4	+	2	1691	c.1341T>G	c.(1339-1341)taT>taG	p.Y447*	KCNS2_ENST00000521839.1_Nonsense_Mutation_p.Y447*	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	447						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TAAGGGACTATTATGCCCATA	0.483000													7	144					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:30269510C>T	ENST00000378981.3	+	4	1221	c.900C>T	c.(898-900)ttC>ttT	p.F300F	MAGEB1_ENST00000397548.2_Silent_p.F300F|MAGEB1_ENST00000397550.1_Silent_p.F300F	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512000													50	2					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173894920	173894920	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:173894920T>A	ENST00000264111.6	+	26	2771	c.2584T>A	c.(2584-2586)Ttt>Att	p.F862I	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.F692I|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.F643I|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.F710I|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.F710I|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.F863I|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.F719I|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.F863I			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	863	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCTGAATTCCTTTTTTGCCAT	0.408000													10	54					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305022	27305022	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27305022C>T	ENST00000380320.4	+	4	1082	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	195					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCAAGGCCTGCGGGGCGT	0.662000													18	36					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149580	61149580	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:61149580T>C	ENST00000295025.7	+	11	2090	c.1770T>C	c.(1768-1770)ggT>ggC	p.G590G	REL_ENST00000394479.3_Silent_p.G558G	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	590					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACAGTCATGGTTTTGTTCAAG	0.373000			A		Hodgkin Lymphoma								9	34					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44159684	44159684	+	Missense_Mutation	SNP	G	G	A	rs139338626	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44159684G>A	ENST00000340093.3	-	5	743	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	PLAUR_ENST00000339082.3_Missense_Mutation_p.L172F|PLAUR_ENST00000601723.1_Missense_Mutation_p.L172F|PLAUR_ENST00000221264.4_Intron	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	172	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGCCGGGAAGGTAGCCACAG	0.572000													42	49					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041414	86041414	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:86041414A>C	ENST00000414626.2	+	9	2255	c.1366A>C	c.(1366-1368)Aag>Cag	p.K456Q	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K476Q			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	476					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTTAGGCTAAAGGAAATTAT	0.303000													7	118					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100175	184100175	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184100175A>C	ENST00000204604.1	+	7	945		c.e7-1		EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Splice_Site|CHRD_ENST00000450923.1_Splice_Site	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCTGCTCCAGGTCTGTGGG	0.572000													32	416					0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36623914	36623914	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36623914A>G	ENST00000249066.6	-	6	1026	c.550T>C	c.(550-552)Ttg>Ctg	p.L184L	APOL2_ENST00000451256.2_Silent_p.L296L|APOL2_ENST00000358502.5_Silent_p.L184L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	184					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CTTTGGTCCAAGTTGCGGGCT	0.522000													30	79					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67299694	67299694	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:67299694C>T	ENST00000371026.3	-	12	1926	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	WDR78_ENST00000431318.1_Missense_Mutation_p.R370Q	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	624										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TAGTCCTTTTCGTATAACCCA	0.338000													9	23					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650829	79650829	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:79650829C>T	ENST00000397498.4	-	1	125	c.27G>A	c.(25-27)ttG>ttA	p.L9L		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	9							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCCGCGGCTCAAGGCCCGCC	0.637000													14	25					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858183	23858183	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23858183C>T	ENST00000405093.3	-	29	4130	c.4060G>A	c.(4060-4062)Gag>Aag	p.E1354K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1354K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1354					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTTGGCCTCTGTCTCCTCC	0.672000													20	36					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29391577	29391577	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:29391577A>C	ENST00000343067.4	+	16	2218	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	EPB41_ENST00000373797.1_Silent_p.P683P|EPB41_ENST00000356093.2_Silent_p.P664P|EPB41_ENST00000373800.3_Silent_p.P455P|EPB41_ENST00000373798.1_Silent_p.P697P|EPB41_ENST00000349460.4_Silent_p.P474P|EPB41_ENST00000347529.3_Silent_p.P608P|EPB41_ENST00000398863.2_Silent_p.P643P	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	697	Spectrin--actin-binding.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGTCTGTACCAGAACCACGGC	0.448000													41	82					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416016	105416016	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105416016G>A	ENST00000333244.5	-	7	5891	c.5772C>T	c.(5770-5772)ccC>ccT	p.P1924P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1924						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTGTCTGGGGGCCCTTGA	0.627000													159	180					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669947	24669947	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24669947G>A	ENST00000376454.3	+	3	534	c.504G>A	c.(502-504)gcG>gcA	p.A168A	KIAA1217_ENST00000376462.1_Silent_p.A88A|KIAA1217_ENST00000376452.3_Silent_p.A168A|KIAA1217_ENST00000458595.1_Silent_p.A168A|KIAA1217_ENST00000430453.2_Silent_p.A89A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	168					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGACTCGTGCGAGCCTTCCTG	0.522000													31	40					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613662	18613662	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18613662A>G	ENST00000330423.3	+	5	1182	c.1109A>G	c.(1108-1110)aAg>aGg	p.K370R	TUBA8_ENST00000316027.6_Missense_Mutation_p.K304R	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	370					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GACCTGGCCAAGGTGCAGCGG	0.642000													20	56					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24580241	24580241	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24580241A>G	ENST00000358321.3	+	4	838	c.577A>G	c.(577-579)Acc>Gcc	p.T193A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	193					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGACCATCACCATCGAACT	0.627000													5	33					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701319	192701319	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:192701319G>A	ENST00000304141.4	-	2	937	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	203						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCATCTGAGGAGAGGTCCAC	0.532000													20	46					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087627	49087627	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49087627T>C	ENST00000261900.3	-	9	1592	c.1370A>G	c.(1369-1371)aAa>aGa	p.K457R		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	457					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GAGAGCTGTTTTGTCAGCCTT	0.443000													9	135					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924289	226924289	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226924289G>A	ENST00000429204.1	-	2	1198	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	ITPKB_ENST00000272117.3_Missense_Mutation_p.P291S|ITPKB_ENST00000366784.1_Missense_Mutation_p.P291S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	291							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCCAATGAGGGAGCTAGGCAG	0.597000													32	36					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9027773	9027773	+	Silent	SNP	C	C	T	rs41280042		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9027773C>T	ENST00000377443.2	+	6	631	c.627C>T	c.(625-627)ctC>ctT	p.L209L	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.L149L|CA6_ENST00000377436.3_Silent_p.L209L	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	209					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAACCTCCAGCACTACT	0.542000													44	72					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234402154	234402154	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234402154G>A	ENST00000251722.6	-	25	2948	c.2831C>T	c.(2830-2832)cCc>cTc	p.P944L	USP40_ENST00000427112.2_Missense_Mutation_p.P944L|USP40_ENST00000450966.1_Missense_Mutation_p.P956L|USP40_ENST00000409945.1_Missense_Mutation_p.P120L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	944					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		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;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTGTCCTGAGGGACCCTGAAG	0.498000													11	7					0	0	1	0	0
SAYSD1	55776	broad.mit.edu	37	6	39073313	39073313	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:39073313C>T	ENST00000229903.4	-	2	546	c.447G>A	c.(445-447)aaG>aaA	p.K149K	SAYSD1_ENST00000373249.1_Silent_p.K82K	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	149						integral to membrane											AGTAGGCGCTCTTCTCTCCCT	0.537000													88	114					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46313395	46313395	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:46313395T>A	ENST00000306156.3	+	11	1813	c.1486T>A	c.(1486-1488)Ttt>Att	p.F496I		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	496	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGACCTCATGTTTCAGATTCA	0.498000													18	49					0	0	1	0	0
RTCB	51493	broad.mit.edu	37	22	32804215	32804215	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32804215G>A	ENST00000216038.5	-	3	285	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	RTCB_ENST00000451746.2_Silent_p.L63L	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		ATGGCTGGCAGGAAGCCACCA	0.373000													12	14					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424132	125424132	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:125424132C>T	ENST00000373686.1	+	1	288	c.288C>T	c.(286-288)atC>atT	p.I96I				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGCTTATCATCCTGGCCATCC	0.488000													15	36					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1579144	1579144	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1579144T>G	ENST00000397374.3	-	6	828	c.701A>C	c.(700-702)aAa>aCa	p.K234T	DUSP8_ENST00000331588.4_Missense_Mutation_p.K234T|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	234	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GAGCTTGGCTTTATCTGGGCA	0.617000													12	53					0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41657044	41657044	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:41657044T>G	ENST00000379487.3	+	10	1525	c.1125T>G	c.(1123-1125)gaT>gaG	p.D375E	WBP4_ENST00000542082.1_Missense_Mutation_p.D354E	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	375					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		GAGGTGATGATCAATAGTTGC	0.378000													4	21					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290837	50290837	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:50290837A>C	ENST00000338821.5	-	11	1156	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	ATP9A_ENST00000311637.5_Missense_Mutation_p.L162V|ATP9A_ENST00000402822.1_Missense_Mutation_p.L177V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	298					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCACTTCCAAGTCGAACAGG	0.547000													14	52					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88872190	88872190	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:88872190T>G	ENST00000301019.4	+	5	1364	c.745T>G	c.(745-747)Ttc>Gtc	p.F249V		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	249					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CTCCTACCGCTTCCGCCAGGA	0.632000													3	34					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289822	5289822	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5289822C>T	ENST00000380237.1	-	5	665	c.321G>A	c.(319-321)ctG>ctA	p.L107L	HBE1_ENST00000292896.2_Silent_p.L107L|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	107					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACGTTACCCAGGAGCTGTT	0.453000													77	56					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416350	105416350	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105416350T>C	ENST00000333244.5	-	7	5557	c.5438A>G	c.(5437-5439)gAc>gGc	p.D1813G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1813						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCTTGTCGGCCAGGGA	0.622000													24	393					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50411752	50411752	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50411752T>C	ENST00000596217.1	-	2	3200	c.1313A>G	c.(1312-1314)gAg>gGg	p.E438G	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.E362G|NUP62_ENST00000597029.1_Missense_Mutation_p.E438G|NUP62_ENST00000352066.3_Missense_Mutation_p.E438G|NUP62_ENST00000413454.1_Missense_Mutation_p.E438G|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.E438G			P37198	NUP62_HUMAN	nucleoporin 62kDa	438					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATCGATGTTCTCAGCCAGCTT	0.607000													26	131					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112225680	112225680	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:112225680A>T	ENST00000374541.2	-	2	139	c.35T>A	c.(34-36)aTt>aAt	p.I12N	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	12					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TATATTATTAATTCTTCCACC	0.398000													14	57					0	0	1	0	0
FUT7	2529	broad.mit.edu	37	9	139926119	139926119	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139926119G>A	ENST00000314412.6	-	2	1090	c.72C>T	c.(70-72)ctC>ctT	p.L24L	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	24					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGAGGGCAGCGAGCAGAGCCA	0.711000													5	0					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96429168	96429168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:96429168G>A	ENST00000228740.2	-	1	271	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	LTA4H_ENST00000413268.2_Intron|LTA4H_ENST00000552789.1_Intron	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	44					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TCCTGAGACTGGACCGTGAGA	0.692000													11	0					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89902106	89902106	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:89902106A>C	ENST00000534061.1	+	12	1518	c.1288A>C	c.(1288-1290)Aaa>Caa	p.K430Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.K397Q|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	430	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAGAATGTCAAAATACTCCA	0.299000													6	10					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21875419	21875419	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:21875419A>C	ENST00000429584.2	+	1	1315	c.817A>C	c.(817-819)Aaa>Caa	p.K273Q	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	273	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGCCATGAGAAAACATCTCCA	0.512000													71	64					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417655	9417655	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:9417655A>G	ENST00000378501.2	+	26	2599	c.2584A>G	c.(2584-2586)Ata>Gta	p.I862V	PLCB4_ENST00000378473.3_Missense_Mutation_p.I874V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.I874V|PLCB4_ENST00000378493.1_Missense_Mutation_p.I862V|PLCB4_ENST00000334005.3_Missense_Mutation_p.I862V|PLCB4_ENST00000278655.4_Missense_Mutation_p.I862V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	862					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCAGAGTGACATAGCCGACGT	0.423000													14	13					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416409	57416409	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:57416409C>T	ENST00000565912.1	+	2	3251	c.545C>T	c.(544-546)tCc>tTc	p.S182F	CX3CL1_ENST00000006053.6_Missense_Mutation_p.S220F|CX3CL1_ENST00000563383.1_Missense_Mutation_p.S226F			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	220	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGGCCCCGTCCACCCAGGAC	0.682000													57	6					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269756	173269756	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:173269756C>T	ENST00000506823.1	+	5	1126	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	GALNTL6_ENST00000508122.1_Silent_p.L140L|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	157	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GACTTCACTCCTGCGGACCAT	0.428000													20	59					0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27470347	27470347	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:27470347T>A	ENST00000389032.3	+	10	1085	c.916T>A	c.(916-918)Tgg>Agg	p.W306R	STK38L_ENST00000539577.1_Missense_Mutation_p.W213R	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	306	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ATTGTGTGACTGGTGGTCTTT	0.368000													10	81					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554171	28554171	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28554171G>A	ENST00000452236.2	-	1	941	c.324C>T	c.(322-324)ctC>ctT	p.L108L	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	108	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCCAAGACTGGAGCTCCTCAG	0.527000													87	81					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483900	56483900	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56483900T>C	ENST00000370765.6	-	23	5039	c.4932A>G	c.(4930-4932)agA>agG	p.R1644R	DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5308					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTTAATTTTTCTTTGAAAAT	0.363000													7	100					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159986273	159986273	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:159986273A>C	ENST00000326448.7	-	19	2583	c.2151T>G	c.(2149-2151)gcT>gcG	p.A717A	IFT80_ENST00000496589.1_Silent_p.A580A|IFT80_ENST00000483465.1_Silent_p.A580A|RP11-432B6.3_ENST00000483754.1_Silent_p.A888A	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	717						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGACGGTAAGCAAGAACTG	0.318000													8	97					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25255174	25255174	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:25255174A>G	ENST00000354454.3	+	16	1761	c.933_splice	c.e16+1	p.K311_splice	LRMP_ENST00000547044.1_Splice_Site_p.K311_splice|LRMP_ENST00000548766.1_Splice_Site_p.K311_splice	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	367					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CTAAACTCCAAGGTAATTACT	0.289000													6	12					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571186	71571186	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:71571186A>T	ENST00000395275.2	-	4	726	c.338T>A	c.(337-339)aTg>aAg	p.M113K	CALN1_ENST00000405452.2_Missense_Mutation_p.M71K|CALN1_ENST00000395276.2_Missense_Mutation_p.M71K|CALN1_ENST00000329008.5_Missense_Mutation_p.M71K|CALN1_ENST00000412588.1_Missense_Mutation_p.M113K|CALN1_ENST00000431984.1_Missense_Mutation_p.M71K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	71						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCGCTTGGCATGTACCCCAA	0.587000													11	38					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790449	194790449	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:194790449C>T	ENST00000310380.6	-	4	1285	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	XXYLT1_ENST00000437101.1_Missense_Mutation_p.D190N|XXYLT1_ENST00000429994.1_Missense_Mutation_p.D247N|XXYLT1_ENST00000355729.4_Missense_Mutation_p.D190N|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.D187N	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	393						integral to membrane	transferase activity, transferring glycosyl groups										AGCGCCTAGTCCTCCGGGATG	0.622000													49	221					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42472774	42472774	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:42472774T>C	ENST00000318522.5	+	2	417	c.155T>C	c.(154-156)cTt>cCt	p.L52P	EML4_ENST00000401738.3_Missense_Mutation_p.L52P|EML4_ENST00000402711.2_Missense_Mutation_p.L52P|EML4_ENST00000482660.1_3'UTR	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	52					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTGAGGCGTCTTGCAATCTCT	0.403000			T	ALK	NSCLC								18	37					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176462	57176462	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57176462T>C	ENST00000537055.2	-	2	336	c.105A>G	c.(103-105)ccA>ccG	p.P35P		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTCTGGCTCTGGACAGCTTT	0.597000													13	96					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185232249	185232249	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185232249G>A	ENST00000296252.4	-	8	1184	c.1043C>T	c.(1042-1044)aCc>aTc	p.T348I	LIPH_ENST00000424591.2_Missense_Mutation_p.T314I	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	348					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAATTTGATGGTAATGTCCCC	0.373000													26	108					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123587257	123587257	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123587257G>A	ENST00000422452.2	-	23	4097	c.4034C>T	c.(4033-4035)aCt>aTt	p.T1345I	TENM1_ENST00000371130.3_Missense_Mutation_p.T1338I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCCGATTACAGTTGTGATCAC	0.428000													42	0					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599568	123599568	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123599568G>A	ENST00000340011.5	+	5	1432	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	SPAM1_ENST00000439500.1_Missense_Mutation_p.E359K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E359K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E359K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E359K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	359					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAATTACATGGAGACTATACT	0.363000													15	26					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636167	7636167	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7636167C>T	ENST00000359156.4	-	12	3086	c.2884G>A	c.(2884-2886)Gat>Aat	p.D962N	CD163_ENST00000541972.1_Missense_Mutation_p.D950N|CD163_ENST00000396620.3_Missense_Mutation_p.D995N|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.D962N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	962	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACCTGAGCATCGTCCAAGTCC	0.517000													35	46					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77397598	77397598	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77397598C>T	ENST00000451710.3	-	22	3328	c.3091G>A	c.(3091-3093)Gat>Aat	p.D1031N	TRPM6_ENST00000449912.2_Missense_Mutation_p.D1026N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1031N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1031N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1026N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1031					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TACACACCATCTATTTCTCCA	0.373000													18	21					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826574	143826574	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143826574G>A	ENST00000408899.2	+	1	424	c.369G>A	c.(367-369)gcG>gcA	p.A123A		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATCGCTATGCGGACATCTGCC	0.498000													77	89					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118092	194118092	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:194118092G>A	ENST00000401815.1	-	1	991	c.920C>T	c.(919-921)gCc>gTc	p.A307V	GP5_ENST00000323007.3_Missense_Mutation_p.A307V			P40197	GPV_HUMAN	glycoprotein V (platelet)	307					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GAAGGCGGCGGCGGGCAGGGT	0.716000													40	11					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420310	74420310	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:74420310G>A	ENST00000377669.2	-	3	350	c.324C>T	c.(322-324)tcC>tcT	p.S108S	KLF12_ENST00000377666.4_Silent_p.S108S|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	108					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAGAAGGTGAGGAGGCAGATG	0.483000													10	33					0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471604	39471604	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39471604G>A	ENST00000334202.3	-	1	343	c.299C>T	c.(298-300)cCt>cTt	p.P100L		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	100						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCGCATATAGGTGTGGGCTG	0.632000													41	2					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52512203	52512203	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52512203T>C	ENST00000345716.4	+	10	1212	c.1078T>C	c.(1078-1080)Tta>Cta	p.L360L	NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000420808.2_Silent_p.L360L|NISCH_ENST00000488380.1_Silent_p.L360L|NISCH_ENST00000479054.1_Silent_p.L360L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	360	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CATCAAGACCTTAAACCTGGC	0.547000													20	61					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45898936	45898936	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45898936G>A	ENST00000418234.2	-	7	1190	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P371L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	371	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CATGCTGAGGGGGATGGGACG	0.731000													6	2					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612343	179612343	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179612343C>T	ENST00000360870.5	-	46	15006	c.14784G>A	c.(14782-14784)aaG>aaA	p.K4928K	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1055	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGACAAGCTTTGCCTGGT	0.448000													21	49					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823866	97823866	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:97823866A>G	ENST00000297293.5	+	11	4382	c.4089A>G	c.(4087-4089)acA>acG	p.T1363T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1363					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATGATGTCACAGTCTACCTGT	0.473000													16	51					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202568414	202568414	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:202568414T>G	ENST00000367267.1	-	8	1177	c.985A>C	c.(985-987)Aag>Cag	p.K329Q	SYT2_ENST00000367268.4_Missense_Mutation_p.K329Q	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	329	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTCTTCTTCTTCACGGTTGTC	0.542000													27	133					0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91548307	91548307	+	Missense_Mutation	SNP	A	A	C	rs149121639	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:91548307A>C	ENST00000333371.3	-	15	1501	c.1148T>G	c.(1147-1149)aTt>aGt	p.I383S	VPS33B_ENST00000535906.1_Missense_Mutation_p.I356S|VPS33B_ENST00000535843.1_Missense_Mutation_p.I292S	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	383					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTGTTCCTCAATGTAGCTGGT	0.562000													4	58					0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96230255	96230255	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:96230255A>C	ENST00000376873.3	+	5	898	c.668A>C	c.(667-669)aAt>aCt	p.N223T	CLDN10_ENST00000299339.2_Missense_Mutation_p.N225T	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	225					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTTGATAAAAATGCTTATGTC	0.398000													4	29					0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	46998547	46998547	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:46998547A>G	ENST00000360943.5	+	5	851	c.716A>G	c.(715-717)aAc>aGc	p.N239S		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	239					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										GACAGCAAAAACTATAATGAA	0.428000													5	12					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30105694	30105694	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:30105694A>C	ENST00000331968.5	-	7	1221	c.992T>G	c.(991-993)cTt>cGt	p.L331R	PRKD1_ENST00000415220.2_Missense_Mutation_p.L339R|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	331					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCCAGGGCTAAGCAAATCTAG	0.433000													16	28					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41454341	41454341	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:41454341A>G	ENST00000372621.4	+	5	1022	c.514A>G	c.(514-516)Aga>Gga	p.R172G	CTPS1_ENST00000372616.1_Missense_Mutation_p.R172G|CTPS1_ENST00000543104.1_Missense_Mutation_p.R179G|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	172					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CAAGGTCAAAAGAGAGAACTT	0.448000													22	117					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568158	7568158	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:7568158G>A	ENST00000340209.4	+	2	349	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	RBFOX1_ENST00000436368.2_Missense_Mutation_p.E33K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E13K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E56K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E49K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E13K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E56K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E13K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E49K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.E33K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E33K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	13					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGGTAATCAGGAAGCAGCCGC	0.582000													141	166					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140477854	140477854	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:140477854A>T	ENST00000288602.6	-	12	1514	c.1454T>A	c.(1453-1455)tTg>tAg	p.L485*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	485	Protein kinase.		L -> F (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTCACATTCAACATTTTCAC	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	26					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156641255	156641255	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156641255G>A	ENST00000422843.3	+	4	531	c.379G>A	c.(379-381)Gat>Aat	p.D127N	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	127					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)			TTTCTGGATGGATGGGAAGTG	0.448000			T	SYK	peripheral T-cell lymphoma								27	28					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80336252	80336252	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:80336252T>C	ENST00000286548.4	-	7	1289	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	GNAQ_ENST00000397476.3_Missense_Mutation_p.Y154C	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	356					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GACCAGATTGTACTCCTTCAG	0.493000			Mis		uveal melanoma								4	12					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319018	78319018	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:78319018C>T	ENST00000582970.1	+	29	7026	c.6883C>T	c.(6883-6885)Cgg>Tgg	p.R2295W	RNF213_ENST00000336301.6_Missense_Mutation_p.R368W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2344W	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)			CTTCTCCCTCCGGAAGAGGTG	0.547000													95	6					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37349002	37349002	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:37349002C>T	ENST00000373479.4	+	7	1506	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	438					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						ATAGAATGCCCCATTTGTCGG	0.423000													63	60					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64219883	64219883	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:64219883C>T	ENST00000205948.6	-	4	385	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	116	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CAGCGCCATTCAGATAAAACC	0.433000													57	3					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228469827	228469827	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:228469827G>A	ENST00000570156.2	+	36	9752	c.9678G>A	c.(9676-9678)cgG>cgA	p.R3226R	OBSCN_ENST00000422127.1_Silent_p.R2797R|OBSCN_ENST00000284548.11_Silent_p.R2797R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.R1644R|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2260	Ig-like 32.				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)				TGGTGGTCCGGGAGGCTGCAC	0.652000													17	23					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585958	7585958	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7585958G>A	ENST00000379802.3	+	24	8804	c.8463G>A	c.(8461-8463)tcG>tcA	p.S2821S	DSP_ENST00000418664.2_Silent_p.S2222S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2821	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACATGTCTTCGGCTCCGGGGt	0.637000													83	84					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141795381	141795381	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141795381C>T	ENST00000475668.2	+	64	7529	c.7475C>T	c.(7474-7476)tCc>tTc	p.S2492F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1596F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1596					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCCTGTGTCCTGGGATGTT	0.458000													33	40					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195877	102195877	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:102195877C>T	ENST00000306176.1	+	10	1212	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	ZPLD1_ENST00000466937.1_Missense_Mutation_p.S355L|ZPLD1_ENST00000491959.1_Missense_Mutation_p.S355L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	355						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCAACAATTCGCAACTTGGT	0.308000													37	1					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472238	179472238	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179472238T>G	ENST00000589042.1	-	277	53401	c.53177A>C	c.(53176-53178)aAa>aCa	p.K17726T	TTN_ENST00000342175.6_Missense_Mutation_p.K8853T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8661T|TTN_ENST00000359218.5_Missense_Mutation_p.K8786T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K16085T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K15158T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16085	Fibronectin type-III 28.						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)			TAGTTCAGATTTGGTTCCAAC	0.453000													98	225					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481818	38481818	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38481818C>T	ENST00000263409.4	-	20	3335	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E	LIFR_ENST00000453190.2_Missense_Mutation_p.G1058E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1058					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCATGGACTTCCAAATGAGAC	0.413000			T	PLAG1	salivary adenoma								131	37					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773781	151773781	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151773781C>T	ENST00000368820.3	-	2	2337	c.1400G>A	c.(1399-1401)gGg>gAg	p.G467E		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	467	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCAGTGTCCCATCCTCTAG	0.607000													100	110					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544966	35544966	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35544966C>T	ENST00000536438.1	-	11	1386	c.1071G>A	c.(1069-1071)agG>agA	p.R357R	FKBP5_ENST00000357266.4_Silent_p.R357R|FKBP5_ENST00000539068.1_Silent_p.R357R|FKBP5_ENST00000540787.1_Silent_p.R178R	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	357					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GGGCTTCACCCCTCCTATACA	0.448000													56	92					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431793	45431793	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:45431793C>T	ENST00000361462.2	+	1	352	c.169C>T	c.(169-171)Cac>Tac	p.H57Y	FAM179B_ENST00000361577.3_Missense_Mutation_p.H57Y|FAM179B_ENST00000382233.2_Missense_Mutation_p.H57Y			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	57							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGCGGGGGACCACGGTTCCTG	0.602000													17	17					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42128035	42128035	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42128035G>A	ENST00000221954.2	-	3	641	c.531C>T	c.(529-531)tcC>tcT	p.S177S	CEACAM4_ENST00000600925.1_Silent_p.S177S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	177						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TTCCAGTCCTGGAGAGAAGCA	0.662000													21	24					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442859	10442859	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10442859G>C	ENST00000245503.5	-	13	1552	c.1168C>G	c.(1168-1170)Ctc>Gtc	p.L390V	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L390V|MYH2_ENST00000532183.1_Missense_Mutation_p.L390V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	390	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGACTCTGGAGGTAGGCCGCC	0.443000													85	3					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10955434	10955434	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:10955434A>C	ENST00000283141.6	+	24	2336	c.2040A>C	c.(2038-2040)gaA>gaC	p.E680D		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	680						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CAATAACAGAAGAAAGAGAGT	0.448000											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	90					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49419970	49419970	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49419970G>A	ENST00000301067.7	-	48	15778	c.15779C>T	c.(15778-15780)cCc>cTc	p.P5260L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCACCCTGGGGAGAGGCGTC	0.507000													41	157					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170720	58170720	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:58170720T>C	ENST00000309403.2	-	1	162	c.163A>G	c.(163-165)Aat>Gat	p.N55D		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATGGGATTGTGGAGACAG	0.418000													60	53					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010148	35010148	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35010148C>T	ENST00000231420.6	-	12	1495	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	432					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.R432Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACCTTTGCCTCGGACGTCTCC	0.448000													20	83					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10664942	10664942	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10664942C>T	ENST00000312962.6	-	19	1834	c.1815G>A	c.(1813-1815)gcG>gcA	p.A605A	KRI1_ENST00000361821.5_Silent_p.A601A	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	605										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTGTGGCTTCCGCAGGTGTCT	0.617000													47	37					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834004	168834004	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:168834004C>T	ENST00000464456.1	-	7	2292	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	MECOM_ENST00000433243.2_Silent_p.G365G|MECOM_ENST00000460814.1_Silent_p.G364G|MECOM_ENST00000472280.1_Silent_p.G365G|MECOM_ENST00000392736.3_Silent_p.G364G|MECOM_ENST00000468789.1_Silent_p.G364G|MECOM_ENST00000494292.1_Silent_p.G552G|MECOM_ENST00000264674.3_Silent_p.G429G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCTTATTGTCCCCTACAGATG	0.473000													32	96					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169204672	169204672	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:169204672G>A	ENST00000393743.3	-	13	1938	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	549							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTTCGAAGAGACTGTTTCTA	0.358000													6	15					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933417	127933417	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127933417T>G	ENST00000451402.1	-	3	449	c.229A>C	c.(229-231)Aat>Cat	p.N77H	PPP6C_ENST00000373547.4_Missense_Mutation_p.N40H|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000415905.1_Missense_Mutation_p.N40H	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	40					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GGCTGAACATTTGACTCTTCT	0.348000													28	107					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49227705	49227705	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49227705G>A	ENST00000222145.4	-	10	2637	c.2433C>T	c.(2431-2433)ctC>ctT	p.L811L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	811	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGTCCAAGACGAGGTCCAGGT	0.562000													49	42					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18888074	18888074	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18888074C>T	ENST00000338797.6	+	15	1860	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	CRTC1_ENST00000601916.1_Missense_Mutation_p.P354L|CRTC1_ENST00000321949.8_Missense_Mutation_p.P596L|CRTC1_ENST00000594658.1_Missense_Mutation_p.P555L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	596					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCCAGTTTCCCCTGGACGAA	0.637000													193	232					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100691887	100691887	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:100691887C>T	ENST00000360820.2	+	4	851	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	138	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATCTACCTTCCCCTATATCTC	0.323000													12	0					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73579311	73579311	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:73579311G>A	ENST00000394936.3	-	11	1408	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	PSAP_ENST00000394934.1_Missense_Mutation_p.R423C			P07602	SAP_HUMAN	prosaposin	421	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCCAGGTTGCGATCCAAATAA	0.567000													39	0					0	0	1	0	0
COX8C	341947	broad.mit.edu	37	14	93814374	93814374	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93814374G>A	ENST00000342144.2	+	2	205	c.126_splice	c.e2-1	p.E43_splice	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	43						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCTCTTCCAGGAAATGGCTGT	0.443000													21	28					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77845059	77845059	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77845059C>T	ENST00000216471.4	+	1	1584	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	433										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTAAGTATTCTGTAGGAAAC	0.388000													16	40					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826272	46826272	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46826272C>T	ENST00000283296.7	-	17	3656	c.3368G>A	c.(3367-3369)aGc>aAc	p.S1123N	GPR116_ENST00000265417.7_Missense_Mutation_p.S1123N|GPR116_ENST00000362015.4_Missense_Mutation_p.S1123N|GPR116_ENST00000545669.1_Missense_Mutation_p.S552N|GPR116_ENST00000456426.2_Missense_Mutation_p.S981N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTGGACCTGCTTGTTTCATG	0.532000													15	29					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23398558	23398558	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23398558C>T	ENST00000324366.8	-	1	236	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000216350.8_5'UTR|PRMT5_ENST00000397440.4_5'UTR|PRMT5_ENST00000397441.2_5'UTR|PRMT5_ENST00000553897.1_Missense_Mutation_p.A5T|PRMT5_ENST00000553641.1_5'UTR	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	5					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CCCCCGACCGCCATCGCCGCC	0.617000													10	14					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30409531	30409531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30409531C>T	ENST00000375994.2	+	3	1036	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	MYLK2_ENST00000375985.4_Nonsense_Mutation_p.Q255*			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	255					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.Q255K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACTGCTTCCAGATTTTGGG	0.642000													63	72					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20822247	20822247	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20822247G>A	ENST00000527915.1	+	8	648	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	PARP2_ENST00000555140.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.E202K|PARP2_ENST00000250416.5_Missense_Mutation_p.E215K			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	215					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTATAGGATGAAGAGGAAAC	0.338000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					9	35					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095012	81095012	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81095012G>A	ENST00000378611.4	-	3	1057	c.942C>T	c.(940-942)gaC>gaT	p.D314D	C16orf46_ENST00000299578.5_Silent_p.D314D|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	314										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGTTGCTGGGGTCTGGAGGGC	0.582000													44	2					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151499556	151499556	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151499556T>C	ENST00000271636.7	+	10	2002	c.1869T>C	c.(1867-1869)gaT>gaC	p.D623D		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	617	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCTGGAGATACTCGCCAGG	0.537000													4	82					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121659238	121659238	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:121659238A>C	ENST00000393386.2	+	13	5315	c.4904A>C	c.(4903-4905)aAg>aCg	p.K1635T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K775T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1635					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAATCCGAGAAGAAGGCAGTT	0.433000													18	42					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364962	29364962	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29364962T>C	ENST00000383555.2	+	1	547	c.486T>C	c.(484-486)tcT>tcC	p.S162S	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TAATGACTTCTCGCTTGAACT	0.478000													8	120					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246743	41246743	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41246743A>C	ENST00000357654.3	-	10	923	c.805T>G	c.(805-807)Ttg>Gtg	p.L269V	BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.L269V|BRCA1_ENST00000354071.3_Missense_Mutation_p.L269V|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.L222V|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.L269V	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	269					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCACATGCAAGTTTGAAACA	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			16	42					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59604745	59604745	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59604745T>G	ENST00000541311.1	-	6	932	c.698A>C	c.(697-699)aAg>aCg	p.K233T	GIF_ENST00000257248.2_Missense_Mutation_p.K258T			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	258					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TTTCCCCTGCTTAATCTCATT	0.468000													19	62					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70504295	70504295	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:70504295A>C	ENST00000433351.2	+	6	1317	c.1289A>C	c.(1288-1290)aAg>aCg	p.K430T	PCYOX1_ENST00000545138.1_Missense_Mutation_p.K352T|PCYOX1_ENST00000264441.5_3'UTR|PCYOX1_ENST00000505044.2_Missense_Mutation_p.K353T	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	430					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TATGCTGTGAAGAAGCCATGG	0.408000													7	55					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147029974	147029974	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147029974T>C	ENST00000265272.5	-	4	1231	c.764A>G	c.(763-765)gAg>gGg	p.E255G	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E255G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E213G	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	255						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTTGCACTCAGCCTCCTT	0.488000													7	37					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22835217	22835217	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22835217C>T	ENST00000404138.1	+	9	2203	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	ZBTB40_ENST00000374651.4_Silent_p.F452F|ZBTB40_ENST00000375647.4_Silent_p.F564F	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	564					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATGCTTTCTTCCGGGCAGGTA	0.527000													13	50					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63662682	63662682	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:63662682C>T	ENST00000402010.2	+	2	685	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	MARK2_ENST00000513765.2_Missense_Mutation_p.R3W|MARK2_ENST00000377809.4_Missense_Mutation_p.R36W|MARK2_ENST00000509502.2_Missense_Mutation_p.R3W|MARK2_ENST00000377810.3_Missense_Mutation_p.R3W|MARK2_ENST00000408948.3_Missense_Mutation_p.R3W|MARK2_ENST00000508192.1_Missense_Mutation_p.R36W|MARK2_ENST00000361128.5_Missense_Mutation_p.R36W|MARK2_ENST00000350490.7_Missense_Mutation_p.R36W|MARK2_ENST00000502399.3_Missense_Mutation_p.R36W|MARK2_ENST00000315032.8_Missense_Mutation_p.R36W|MARK2_ENST00000413835.2_Missense_Mutation_p.R36W|MARK2_ENST00000425897.2_Missense_Mutation_p.R3W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	36					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAACATGATTCGGGGCCGCAA	0.542000													21	29					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162184	142162184	+	RNA	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142162184T>G	ENST00000390371.3	-	0	134																											ATCTTCAGGATGCGGAATTTT	0.522000													52	60					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589643	11589643	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:11589643C>T	ENST00000294484.6	+	14	2967	c.2829C>T	c.(2827-2829)ccC>ccT	p.P943P	PTCHD2_ENST00000389575.3_Silent_p.P943P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	943					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCACAAGCCCCCCTTCCACG	0.632000													55	56					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014034	53014034	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:53014034T>G	ENST00000575882.1	+	9	1232	c.879T>G	c.(877-879)atT>atG	p.I293M	TOM1L1_ENST00000536554.1_Missense_Mutation_p.I216M|TOM1L1_ENST00000445275.2_Missense_Mutation_p.I293M|TOM1L1_ENST00000570371.1_Missense_Mutation_p.I293M|TOM1L1_ENST00000572158.1_Missense_Mutation_p.I286M|TOM1L1_ENST00000575333.1_Missense_Mutation_p.I293M|TOM1L1_ENST00000348161.4_Missense_Mutation_p.I216M|TOM1L1_ENST00000540336.1_Missense_Mutation_p.I181M	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	293					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						AACAAAGGATTTTGGAGCAAA	0.269000													7	17					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415790	86415790	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:86415790G>A	ENST00000361669.2	+	3	1781	c.682G>A	c.(682-684)Gag>Aag	p.E228K	GRM3_ENST00000536043.1_Missense_Mutation_p.E100K|GRM3_ENST00000394720.2_Missense_Mutation_p.E226K|GRM3_ENST00000439827.1_Missense_Mutation_p.E228K|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	228					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACAGGGATCGAGGCCTTCGA	0.602000													25	46					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430901	37430901	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:37430901G>A	ENST00000374660.1	+	7	1007	c.908G>A	c.(907-909)aGg>aAg	p.R303K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R303K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R303K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	359						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAACACCTAGGGAAATTACG	0.443000													22	51					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661594	2661594	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:2661594C>T	ENST00000324666.5	+	8	1036	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	FAM193A_ENST00000382839.3_Missense_Mutation_p.P229S|FAM193A_ENST00000505311.1_Missense_Mutation_p.P229S|FAM193A_ENST00000545951.1_Missense_Mutation_p.P229S|FAM193A_ENST00000502458.1_Missense_Mutation_p.P253S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	229										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TATCATGGACCCCCCCGTCAC	0.527000													57	14					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101565882	101565882	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:101565882A>C	ENST00000335681.5	+	7	823	c.538A>C	c.(538-540)Aag>Cag	p.K180Q	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.K245Q	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	180					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGAACCCAAAGGAATTTCC	0.388000													11	42					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795537	9795537	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9795537G>A	ENST00000377298.4	-	13	2663	c.1871C>T	c.(1870-1872)aCc>aTc	p.T624I	CLSTN1_ENST00000377288.3_Missense_Mutation_p.T605I|CLSTN1_ENST00000361311.4_Missense_Mutation_p.T614I	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	624					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATTGTGCTGGTGATTTTGAG	0.493000													75	127					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12291442	12291442	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:12291442A>G	ENST00000261349.4	-	16	3500	c.3424T>C	c.(3424-3426)Tcc>Ccc	p.S1142P	LRP6_ENST00000543091.1_Missense_Mutation_p.S1142P|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1142	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAGATATTGGAGTCTTCTAAT	0.373000													24	80					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394272	52394272	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:52394272G>C	ENST00000354957.3	-	5	1401	c.1117C>G	c.(1117-1119)Ccc>Gcc	p.P373A	ZNF649_ENST00000600738.1_Missense_Mutation_p.P345A|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CATACAAAGGGAGTCTTTCCT	0.448000													27	61					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22211571	22211571	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:22211571A>C	ENST00000229329.2	+	4	760	c.630A>C	c.(628-630)gaA>gaC	p.E210D		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	210					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GGGATGGAGAATTATATGAAA	0.388000													31	68					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63950756	63950756	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:63950756G>A	ENST00000443617.2	-	48	9673	c.9586C>T	c.(9586-9588)Ctt>Ttt	p.L3196F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3196					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTGAGAGAAGAGACAGCGCT	0.478000													16	2					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418876	20418876	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:20418876A>C	ENST00000222573.3	+	4	1275	c.591A>C	c.(589-591)tcA>tcC	p.S197S	ITGB8_ENST00000537992.1_Silent_p.S62S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	197	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAACAGTTTCACCATACATTA	0.343000													10	22					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7980355	7980355	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7980355A>G	ENST00000319144.4	-	9	1488	c.1228T>C	c.(1228-1230)Tgc>Cgc	p.C410R	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	410	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AAGGCCAGGCAGAAGGCCTCA	0.632000										Multiple Myeloma(8;0.094)			10	35					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102685839	102685839	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:102685839T>G	ENST00000370271.3	+	6	2253	c.2105T>G	c.(2104-2106)tTt>tGt	p.F702C	FAM178A_ENST00000370269.3_Intron|FAM178A_ENST00000238961.3_Intron			Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	0																	TGGCTTACTTTTAATTTACCT	0.343000													4	6					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17452501	17452501	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:17452501G>A	ENST00000302539.4	-	12	1802	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Silent_p.F559F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	559	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGTGGCCCACGAAAGTCTGTG	0.602000													27	17					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39583450	39583450	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:39583450A>C	ENST00000263881.3	-	3	509	c.185T>G	c.(184-186)aTt>aGt	p.I62S	MAP4K3_ENST00000341681.5_Missense_Mutation_p.I62S|MAP4K3_ENST00000437545.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	62	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATCATAATAATTTCTTGCTG	0.308000													5	72					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111981038	111981038	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:111981038C>T	ENST00000361822.3	+	11	1250	c.1121C>T	c.(1120-1122)aCt>aTt	p.T374I	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	374						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GACTTAAGAACTCACATGGAA	0.433000													39	48					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141240	167141240	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167141240G>A	ENST00000303354.6	-	12	2040	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S566F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S567F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S566F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	566						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCAGTCTCAGATCCTATATC	0.502000													45	17					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196782	72196782	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:72196782T>A	ENST00000555818.1	+	18	5036	c.4688T>A	c.(4687-4689)cTc>cAc	p.L1563H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.L1017H|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.L1542H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.L1542H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1563					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCCACGCACTCTCCTCTCCT	0.527000													18	87					0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125298758	125298758	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:125298758A>T	ENST00000296220.5	-	3	649	c.360T>A	c.(358-360)tcT>tcA	p.S120S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	120	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGAAGGTGTGAGAATCCTCAT	0.403000													22	139					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233478	168233478	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:168233478G>A	ENST00000519560.1	-	9	1327	c.908C>T	c.(907-909)gCc>gTc	p.A303V	SLIT3_ENST00000404867.3_Missense_Mutation_p.A303V|SLIT3_ENST00000332966.8_Missense_Mutation_p.A303V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	303	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGCAAGTTGGCAGGAATCTC	0.577000													26	27					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38867668	38867668	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38867668G>A	ENST00000359357.3	+	60	8783	c.8529G>A	c.(8527-8529)caG>caA	p.Q2843Q	DNAH8_ENST00000441566.1_Silent_p.Q2807Q|DNAH8_ENST00000449981.2_Silent_p.Q3060Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATATTCCAGATAACATTAA	0.348000													6	13					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802402	233802402	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:233802402C>T	ENST00000366621.3	+	2	585	c.417C>T	c.(415-417)gtC>gtT	p.V139V	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.V23V	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	139						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTACTCCGTCATTGGCATTC	0.587000													24	39					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585599	82585599	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82585599C>T	ENST00000423517.2	-	5	5007	c.4670G>A	c.(4669-4671)cGa>cAa	p.R1557Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1557Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1488					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTTGTTTTCGAATGAAGTC	0.418000													33	41					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756381	32756381	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32756381C>T	ENST00000249007.4	+	2	721	c.516C>T	c.(514-516)tcC>tcT	p.S172S	RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S143S|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Silent_p.S143S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	172	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCCTGGGCTCCCCTCGCTTTA	0.562000													52	82					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224019	42224019	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42224019A>G	ENST00000221992.6	+	7	1777	c.1663A>G	c.(1663-1665)Acc>Gcc	p.T555A	CEACAM5_ENST00000405816.1_Missense_Mutation_p.T555A|CEACAM5_ENST00000398599.4_Missense_Mutation_p.T554A|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	555	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGCAACAGGACCCTCACTCT	0.527000													31	157					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55139782	55139782	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:55139782G>A	ENST00000414150.2	+	10	2172	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	MROH7_ENST00000395690.2_Missense_Mutation_p.D632N|MROH7_ENST00000409996.1_Missense_Mutation_p.D200N|MROH7_ENST00000339553.5_Missense_Mutation_p.D632N|MROH7_ENST00000545244.1_Missense_Mutation_p.D200N|MROH7_ENST00000454855.2_Missense_Mutation_p.D150N|MROH7_ENST00000421030.2_Missense_Mutation_p.D632N					maestro heat-like repeat family member 7																		TGAGGCTCTGGACGGCATCAT	0.527000													86	65					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111439345	111439345	+	Missense_Mutation	SNP	G	G	A	rs150734121	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:111439345G>A	ENST00000271324.5	+	6	606	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	CD53_ENST00000429072.2_Intron|CD53_ENST00000497404.1_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	165					signal transduction	integral to membrane|plasma membrane		p.R165Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCCTCAGATCGAAAAGTGGAG	0.443000													40	50					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75773675	75773675	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:75773675C>T	ENST00000376911.1	+	2	1013	c.131C>T	c.(130-132)cCa>cTa	p.P44L	ANXA1_ENST00000257497.6_Missense_Mutation_p.P44L			P04083	ANXA1_HUMAN	annexin A1	44					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACCTTCAATCCATCCTCGGAT	0.443000													34	10					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126153068	126153068	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:126153068A>T	ENST00000393425.1	+	15	1574	c.1475A>T	c.(1474-1476)cAc>cTc	p.H492L	CCDC37_ENST00000352312.1_Missense_Mutation_p.H491L|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.H492L			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	491										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTGTACCGGCACTGCACCGGC	0.617000													5	81					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768653	45768653	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:45768653T>G	ENST00000405872.1	-	2	453	c.50A>C	c.(49-51)aAa>aCa	p.K17T	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.K17T	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	17						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GCTGTTGTGTTTCCCTTCATA	0.353000													18	79					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255003	42255003	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42255003T>G	ENST00000293414.1	+	4	1173	c.1089T>G	c.(1087-1089)ccT>ccG	p.P363P	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	363					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCAACTTCCCTCGGGCCCTGG	0.592000													15	63					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026643	36026643	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36026643C>T	ENST00000373243.2	+	3	1274	c.891C>T	c.(889-891)atC>atT	p.I297I	NCDN_ENST00000373253.3_Silent_p.I280I|NCDN_ENST00000356090.4_Silent_p.I297I	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	297					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCGACTGGATCCCGGCGGGCA	0.682000													15	24					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262918	232262918	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:232262918C>T	ENST00000287590.5	+	2	749	c.488C>T	c.(487-489)tCc>tTc	p.S163F	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	163					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GAGCGGCAGTCCGCGGGTGGG	0.701000													6	16					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133357428	133357428	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:133357428A>C	ENST00000204726.3	-	18	4096	c.3538T>G	c.(3538-3540)Tca>Gca	p.S1180A	GOLGA3_ENST00000456883.2_Missense_Mutation_p.S1180A|GOLGA3_ENST00000450791.2_Missense_Mutation_p.S1180A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1180					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)		TTCTCTAGTGAGGCCTGCAGG	0.557000													30	36					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184615844	184615844	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:184615844G>A	ENST00000334690.6	+	23	2798	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E866K|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.E472K	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	866																	TACAACCGTTGAAGAAAAAGA	0.313000													4	14					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47901134	47901134	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47901134G>A	ENST00000507489.1	-	7	1006	c.830C>T	c.(829-831)cCc>cTc	p.P277L	NFXL1_ENST00000381538.3_Missense_Mutation_p.P277L|NFXL1_ENST00000329043.3_Missense_Mutation_p.P277L	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	277						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGGAGGGCAGGGACCTAGAAT	0.358000													6	22					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239435	151239435	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:151239435G>A	ENST00000274576.4	-	4	679	c.387C>T	c.(385-387)gcC>gcT	p.A129A	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Silent_p.A46A|GLRA1_ENST00000455880.2_Silent_p.A129A	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	129					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTTCTCGTTGGCAAAGAACA	0.532000													13	45					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129634186	129634186	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129634186G>A	ENST00000421865.2	+	23	3404	c.3355G>A	c.(3355-3357)Gat>Aat	p.D1119N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1119	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACAACCTGTGATTCAGAGAC	0.498000													44	3					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37637117	37637117	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37637117C>T	ENST00000401529.3	-	3	296	c.197G>A	c.(196-198)gGa>gAa	p.G66E	RAC2_ENST00000406508.1_Intron|RAC2_ENST00000405484.1_Intron|RAC2_ENST00000249071.6_Intron			P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	0					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						AGTCATCCTTCCCTCCTGAGT	0.647000													5	4					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138943251	138943251	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:138943251C>T	ENST00000288561.8	+	4	681	c.432C>T	c.(430-432)ccC>ccT	p.P144P	UBN2_ENST00000473989.2_Silent_p.P227P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	227										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATTAGTTCCCGCTTCTCTAA	0.353000													23	28					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4091302	4091302	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4091302T>C	ENST00000404826.2	+	19	2890	c.2751T>C	c.(2749-2751)gcT>gcC	p.A917A	SDK1_ENST00000389531.3_Silent_p.A917A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	917	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCCGAGGCTGTCACTGTGG	0.522000													12	89					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139341421	139341421	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139341421G>A	ENST00000313084.5	-	6	1024	c.762C>T	c.(760-762)ctC>ctT	p.L254L	SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313050.7_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2053					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGAGAGCGAGGAGGCCATCAT	0.597000													50	35					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118319964	118319964	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:118319964A>C	ENST00000369221.2	+	11	1125	c.1097A>C	c.(1096-1098)aAa>aCa	p.K366T		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	366	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTGTCTGGAAAAAAGGTTACA	0.333000													12	33					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18994926	18994926	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:18994926A>T	ENST00000427170.2	-	3	631	c.560T>A	c.(559-561)cTc>cAc	p.L187H	GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000542296.2_Missense_Mutation_p.L89H|CERS1_ENST00000429504.2_Missense_Mutation_p.L187H	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	187	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						GATGAGGATGAGAGTGACCAC	0.612000													3	23					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70307141	70307141	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:70307141C>T	ENST00000517649.1	-	5	919	c.629G>A	c.(628-630)gGa>gAa	p.G210E	NAIP_ENST00000508426.2_Missense_Mutation_p.G210E|NAIP_ENST00000194097.4_Missense_Mutation_p.G210E|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	210					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGGATCATCTCCTTCTTCCCA	0.383000													17	9					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130985128	130985128	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130985128C>T	ENST00000341179.7	+	9	1277	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	DNM1_ENST00000486160.1_Silent_p.I395I|DNM1_ENST00000475805.1_Silent_p.I395I|DNM1_ENST00000372923.3_Silent_p.I395I|DNM1_ENST00000393594.3_Silent_p.I395I	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	395					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCAAGAATATCCATGGCATTA	0.542000													27	51					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67045454	67045454	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67045454T>G	ENST00000340001.4	-	3	485	c.274A>C	c.(274-276)Aac>Cac	p.N92H	ABCA9_ENST00000370732.2_Missense_Mutation_p.N92H|ABCA9_ENST00000495634.1_Missense_Mutation_p.N92H|ABCA9_ENST00000453985.2_Missense_Mutation_p.N92H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	92					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCCACTTTGTTCATTATCTCT	0.353000													4	53					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808393	4808393	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:4808393A>C	ENST00000354582.6	+	44	6029	c.5680_splice	c.e44+1	p.K1893_splice	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Splice_Site_p.K1893_splice|ITPR1_ENST00000456211.2_Splice_Site_p.K1845_splice|ITPR1_ENST00000423119.2_Splice_Site_p.K1860_splice|ITPR1_ENST00000357086.4_Splice_Site_p.K1860_splice|ITPR1_ENST00000302640.8_Splice_Site_p.K1893_splice			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1908					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CACGGAAAAAAGGTAAATGTT	0.418000													6	18					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978545	40978545	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40978545G>A	ENST00000352632.3	+	2	103	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SPTBN4_ENST00000595535.1_Missense_Mutation_p.G6E|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G6E|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G6E|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G6E			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	6	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTACCAGGGGAAGTGGAC	0.607000													11	12					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672797	31672797	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:31672797G>A	ENST00000375483.3	+	4	777	c.777G>A	c.(775-777)ggG>ggA	p.G259G		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	259						cytoplasm|extracellular region	lipid binding										CCATCAACGGGAAGAGGTGCG	0.627000													16	21					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893246	36893246	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36893246A>G	ENST00000301807.6	-	14	4966	c.3069T>C	c.(3067-3069)gaT>gaC	p.D1023D	TRANK1_ENST00000429976.2_Silent_p.D1573D|TRANK1_ENST00000428977.2_Silent_p.D1023D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1573					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAGGACATCATCAAATTCTA	0.383000													4	20					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702607	120702607	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:120702607G>A	ENST00000527524.2	+	7	845	c.558G>A	c.(556-558)aaG>aaA	p.K186K	GRIK4_ENST00000438375.2_Silent_p.K186K			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	186					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTATCTCCAAGGACACGCTGT	0.597000													50	2					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773817	35773817	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35773817G>A	ENST00000360215.1	+	1	747	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	LHFPL5_ENST00000373853.1_Missense_Mutation_p.A124T	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	124						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTGCAACACGGCCACAGTCTA	0.572000													34	43					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400096	13400096	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:13400096C>T	ENST00000284110.1	-	2	1436	c.639G>A	c.(637-639)atG>atA	p.M213I	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.M11I	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	213						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCGTCTTCTCCATGGTGATCT	0.607000													64	4					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102706900	102706900	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102706900T>G	ENST00000299855.5	-	10	1647	c.1391A>C	c.(1390-1392)aAa>aCa	p.K464T	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	464	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GTGTGTCACTTTCTTTGCATT	0.348000													5	40					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680499	30680499	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:30680499T>G	ENST00000376406.3	-	5	1867	c.1220A>C	c.(1219-1221)gAg>gCg	p.E407A	MDC1_ENST00000376405.2_Missense_Mutation_p.E407A|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	407	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACTTCTTCCTCGTCATCTGT	0.522000								Other conserved DNA damage response genes					4	72					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15430522	15430522	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:15430522G>A	ENST00000342526.3	-	7	854	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	229					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGCAATAACGATTTCTGCCT	0.234000													3	6					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360217	55360217	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55360217C>T	ENST00000398661.2	-	8	1016	c.885_splice	c.e8+1	p.Q295_splice	HMGCLL1_ENST00000308161.4_Splice_Site_p.Q233_splice|HMGCLL1_ENST00000274901.4_Splice_Site_p.Q265_splice|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Splice_Site_p.Q162_splice	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	295							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACAAAATACCTGAAGGGCCG	0.378000													14	33					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3660959	3660959	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3660959T>A	ENST00000397068.3	-	2	1092	c.700A>T	c.(700-702)Aga>Tga	p.R234*	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Nonsense_Mutation_p.R234*	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	234						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGAGAATCTGGTAACCAAA	0.512000													22	109					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184966221	184966221	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184966221T>C	ENST00000231887.3	-	2	234	c.159A>G	c.(157-159)gcA>gcG	p.A53A	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000440662.1_Silent_p.A53A	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	53	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ATTTGCCCTCTGCTCCACAAA	0.413000													7	222					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31008832	31008832	+	Silent	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31008832G>T	ENST00000215095.5	-	5	576	c.345C>A	c.(343-345)cgC>cgA	p.R115R	STX1B_ENST00000565419.1_Silent_p.R115R	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	115					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CCTGGGTCTTGCGGATGCGCA	0.711000													3	5					1	1	1	1	0
ECSIT	51295	broad.mit.edu	37	19	11624680	11624680	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11624680G>A	ENST00000270517.7	-	3	588	c.453C>T	c.(451-453)ttC>ttT	p.F151F	ECSIT_ENST00000252440.7_Silent_p.F151F|ECSIT_ENST00000592312.1_Silent_p.F35F|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.F151F	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	151					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGTAGTGGACGAAGATGCGCT	0.617000													21	29					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941356	13941356	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:13941356C>T	ENST00000254323.2	+	13	2651	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A655V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	821							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGCTCCGGGCCTACAAGCTG	0.697000													53	66					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178390	67178390	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:67178390A>C	ENST00000269081.4	-	23	3582	c.2673T>G	c.(2671-2673)aaT>aaG	p.N891K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	891					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGGAAAACAATTCAATTTCT	0.294000													3	17					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41266174	41266174	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:41266174T>C	ENST00000284440.4	+	8	725	c.581T>C	c.(580-582)cTg>cCg	p.L194P	UCHL1_ENST00000512788.1_Missense_Mutation_p.L194P|UCHL1_ENST00000508768.1_Missense_Mutation_p.L178P|UCHL1_ENST00000503431.1_Missense_Mutation_p.L194P	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	194					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GACACCCTGCTGAAGGTCATC	0.433000													11	98					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28993231	28993231	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28993231C>T	ENST00000311008.11	+	7	1196	c.819C>T	c.(817-819)ttC>ttT	p.F273F	SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000323081.8_Silent_p.F200F|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000565975.1_Silent_p.F318F	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	273					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCTAGTTTCGTCCTGTCTT	0.597000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	55					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157065500	157065500	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:157065500G>A	ENST00000265007.6	-	4	1959	c.1618C>T	c.(1618-1620)Cta>Tta	p.L540L	SOX30_ENST00000519442.1_Silent_p.L235L|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	540					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGCTCTCTAGAGAGACAGGA	0.527000													25	32					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60581501	60581501	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:60581501T>G	ENST00000406854.1	+	3	1327	c.773T>G	c.(772-774)cTt>cGt	p.L258R	PCNXL4_ENST00000406949.1_Missense_Mutation_p.L24R|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L258R|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L24R					pecanex-like 4 (Drosophila)																		CTGTGGGCACTTGGGACTCTG	0.428000													45	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500897	179500897	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179500897T>G	ENST00000589042.1	-	226	41625	c.41401A>C	c.(41401-41403)Agc>Cgc	p.S13801R	TTN_ENST00000342175.6_Missense_Mutation_p.S4928R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S4736R|TTN_ENST00000359218.5_Missense_Mutation_p.S4861R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S12160R|TTN_ENST00000342992.6_Missense_Mutation_p.S11233R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12160	Ig-like 94.						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)			AACTCGCAGCTCAAGTACAAT	0.453000													12	17					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448901	104448901	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104448901G>A	ENST00000361820.3	-	2	1881	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	427					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCCTGAAGTGAGATTTGTAG	0.473000													27	92					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34950591	34950591	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34950591C>T	ENST00000360359.3	+	5	933	c.795C>T	c.(793-795)atC>atT	p.I265I	ANKS1A_ENST00000535627.1_Silent_p.I265I	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	265						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGGTGCAAATCCTGCTGGCTG	0.562000													36	41					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51171490	51171490	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51171490C>T	ENST00000293441.1	-	22	3745	c.3727G>A	c.(3727-3729)Gag>Aag	p.E1243K	SHANK1_ENST00000391813.1_Missense_Mutation_p.E630K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1251K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E1234K|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1243					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)		CAGCCCCCCTCCCTCCGGGCC	0.791000													8	6					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135204948	135204948	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135204948T>A	ENST00000372169.2	-	10	2219	c.2037A>T	c.(2035-2037)ctA>ctT	p.L679L	SETX_ENST00000224140.5_Silent_p.L679L|SETX_ENST00000393220.1_Silent_p.L679L			Q7Z333	SETX_HUMAN	senataxin	679					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GATGGTCCTCTAGTTTCACAT	0.338000													9	20					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10729739	10729739	+	Missense_Mutation	SNP	T	T	G	rs113800455		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:10729739T>G	ENST00000283025.2	-	6	1194	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	375					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCCAGCAGCATGATGGTGTTC	0.642000													25	235					0	0	1	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789075	55789075	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55789075T>C	ENST00000255631.5	-	4	660	c.350A>G	c.(349-351)cAg>cGg	p.Q117R	HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q117R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q117R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q117R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	120					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCGCTCTTGCTGGTCGGCCGC	0.687000													5	18					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19970518	19970518	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:19970518A>C	ENST00000396085.1	+	10	2898	c.2537A>C	c.(2536-2538)aAg>aCg	p.K846T	NAV2_ENST00000527559.2_Missense_Mutation_p.K798T|NAV2_ENST00000360655.4_Missense_Mutation_p.K782T|NAV2_ENST00000540292.1_Missense_Mutation_p.K800T|NAV2_ENST00000349880.4_Missense_Mutation_p.K846T|NAV2_ENST00000396087.3_Missense_Mutation_p.K869T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	869						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCTCAGACAAGGCAGGAGAT	0.572000													6	75					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144361305	144361305	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:144361305C>T	ENST00000262995.4	+	6	1782	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	GAB1_ENST00000262994.4_Missense_Mutation_p.P452L|GAB1_ENST00000505913.1_Missense_Mutation_p.P349L	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	452	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CCAATGAATCCCAATTCACCA	0.353000													24	51					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5966599	5966599	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5966599C>T	ENST00000378896.3	+	16	2362	c.1985C>T	c.(1984-1986)cCc>cTc	p.P662L	MCM8_ENST00000378883.1_Missense_Mutation_p.P615L|MCM8_ENST00000378886.2_Missense_Mutation_p.P702L|MCM8_ENST00000265187.4_Missense_Mutation_p.P646L	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	662					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.P646L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATCCCATTCCCCACCAGCTA	0.408000													35	36					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56098266	56098266	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:56098266T>A	ENST00000426658.2	-	2	1273	c.612A>T	c.(610-612)gaA>gaT	p.E204D	CTCFL_ENST00000422109.2_Missense_Mutation_p.E204D|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Missense_Mutation_p.E204D|CTCFL_ENST00000243914.3_Missense_Mutation_p.E204D|CTCFL_ENST00000371196.2_Missense_Mutation_p.E204D|CTCFL_ENST00000423479.2_Missense_Mutation_p.E204D|CTCFL_ENST00000433949.2_Missense_Mutation_p.E204D|CTCFL_ENST00000422869.2_Missense_Mutation_p.E204D|CTCFL_ENST00000429804.2_Missense_Mutation_p.E204D			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	204					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTGACATTGTTTCCACAAAAA	0.383000													4	112					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452184	41452184	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41452184C>T	ENST00000400454.1	-	25	4792	c.4315G>A	c.(4315-4317)Gaa>Aaa	p.E1439K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1439	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGAGATTTTCCAAGCGATAG	0.478000													18	65					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519280	48519280	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48519280A>C	ENST00000339841.2	+	4	517	c.339A>C	c.(337-339)aaA>aaC	p.K113N	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	113	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGCAGTGGAAATTCTGTGAAA	0.547000													5	102					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093236	69093236	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:69093236C>T	ENST00000295379.1	-	2	960	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	268					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCAGTTCCTCCTTCCTCTCC	0.483000													15	45					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832744	113832744	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113832744G>A	ENST00000393197.2	+	4	683	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	IL1F10_ENST00000337569.3_Missense_Mutation_p.E88K|IL1F10_ENST00000341010.2_Missense_Mutation_p.E88K	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	88						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GAACATTGAGGAACTGTACAA	0.577000													170	103					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45130909	45130909	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45130909G>A	ENST00000403581.1	+	9	1236	c.627G>A	c.(625-627)ggG>ggA	p.G209G	PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.G186G|ARHGAP8_ENST00000517296.3_Silent_p.G186G|PRR5_ENST00000336985.6_Silent_p.G186G|PRR5-ARHGAP8_ENST00000361473.5_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TCCTGCAGGGGGTACATGAGT	0.642000													21	30					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754631	94754631	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94754631C>T	ENST00000554723.1	-	3	1522	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	SERPINA10_ENST00000261994.4_Missense_Mutation_p.M328I|SERPINA10_ENST00000554173.1_Missense_Mutation_p.M328I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.M328I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	328					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACCTGGTTTTCATGTTTCTGA	0.478000													41	47					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587911	68587911	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:68587911C>T	ENST00000478136.1	+	4	754	c.264C>T	c.(262-264)tcC>tcT	p.S88S	FAM19A1_ENST00000496687.1_Silent_p.S88S	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	88						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCACAGCCTCCATAGTGATTG	0.473000													33	190					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75932988	75932988	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:75932988G>A	ENST00000274364.6	+	16	2207	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	IQGAP2_ENST00000502745.1_Missense_Mutation_p.G190E|IQGAP2_ENST00000396234.3_Missense_Mutation_p.G190E|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G196E	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	637					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGGCTCACAGGAAAAGAAATC	0.363000													16	27					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581043	7581043	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7581043C>T	ENST00000379802.3	+	23	4961	c.4620C>T	c.(4618-4620)atC>atT	p.I1540I	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1540	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCTGAGGATCGACTATGAAA	0.502000													77	72					0	0	1	0	0
NMRK2	27231	broad.mit.edu	37	19	3939940	3939940	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3939940C>T	ENST00000168977.2	+	6	656	c.366C>T	c.(364-366)gtC>gtT	p.V122V	NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Silent_p.V127V	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		TCCTGACCGTCCCGTATGAAG	0.617000													17	13					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152694190	152694190	+	Missense_Mutation	SNP	T	T	G	rs35379711	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:152694190T>G	ENST00000367255.5	-	59	10090	c.9489A>C	c.(9487-9489)caA>caC	p.Q3163H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q3170H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q3163H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3202H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q3170H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3163					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGATTCTTTTTGGTGGAGAT	0.373000										HNSCC(10;0.0054)			27	60					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34507087	34507087	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:34507087C>T	ENST00000374037.3	-	5	1183	c.769G>A	c.(769-771)Gag>Aag	p.E257K	SPDEF_ENST00000544425.1_Missense_Mutation_p.E241K	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	257					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						AGTAGCAACTCCTTGAGGAAC	0.632000													81	105					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869447	174869447	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:174869447C>T	ENST00000393752.2	-	2	1648	c.656G>A	c.(655-657)aGg>aAg	p.R219K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	219					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CTGAGCAATCCTGTAGATCCT	0.507000													33	63					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7620634	7620634	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7620634C>T	ENST00000221249.6	+	27	3395	c.2964C>T	c.(2962-2964)gcC>gcT	p.A988A	PNPLA6_ENST00000450331.3_Silent_p.A988A|PNPLA6_ENST00000414982.3_Silent_p.A1036A|PNPLA6_ENST00000545201.2_Silent_p.A961A|PNPLA6_ENST00000600737.1_Silent_p.A1026A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1027	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCAGCGGGCCCGGGAGTGGG	0.662000													37	48					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62167114	62167114	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:62167114A>G	ENST00000261517.5	-	77	10448	c.10375T>C	c.(10375-10377)Tta>Cta	p.L3459L	VPS13C_ENST00000395898.3_Silent_p.L3416L|VPS13C_ENST00000395896.4_Silent_p.L3459L|VPS13C_ENST00000249837.3_Silent_p.L3416L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3459					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCAATCACTAACCCCTCTGCA	0.299000													64	7					0	0	1	0	0
CYP20A1	57404	broad.mit.edu	37	2	204111573	204111573	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:204111573T>G	ENST00000356079.4	+	3	341	c.218T>G	c.(217-219)tTt>tGt	p.F73C	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.F73C	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	73						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TCCTTCTGGTTTGGCAGGCGC	0.423000													47	124					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105160235	105160235	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:105160235A>G	ENST00000369797.3	+	3	278	c.184A>G	c.(184-186)Aga>Gga	p.R62G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	62					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AATCGAAAAGAGAGAAAGCAG	0.403000													7	48					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58441445	58441445	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:58441445A>C	ENST00000357552.3	-	41	4448	c.4223T>G	c.(4222-4224)aTt>aGt	p.I1408S	SYCP2_ENST00000371001.2_Missense_Mutation_p.I1408S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1408					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGTTTTTTAATCCTATTACA	0.264000													14	26					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964660	3964660	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3964660T>C	ENST00000545797.2	-	3	635	c.392A>G	c.(391-393)cAc>cGc	p.H131R	DAPK3_ENST00000301264.3_Missense_Mutation_p.H131R			O43293	DAPK3_HUMAN	death-associated protein kinase 3	131	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCTTAGAGTGCAGGTAGTG	0.652000													8	204					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074818	143074818	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:143074818G>A	ENST00000367603.2	-	10	7509	c.6767C>T	c.(6766-6768)cCa>cTa	p.P2256L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2256L|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2256L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCCTCCATTGGCAGGGGCAA	0.577000													31	6					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551603	100551603	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100551603C>T	ENST00000319509.7	+	1	354	c.354C>T	c.(352-354)tcC>tcT	p.S118S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAATCAGTTCCTTTAGCACAA	0.498000													8	427					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94602423	94602423	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:94602423C>T	ENST00000433060.2	+	12	2690	c.2549C>T	c.(2548-2550)cCc>cTc	p.P850L	AMOTL1_ENST00000317837.9_Missense_Mutation_p.P437L|AMOTL1_ENST00000317829.8_Missense_Mutation_p.P800L	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	850						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCACCCCCACCCACCTCAGCA	0.577000													15	1					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37571519	37571519	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37571519A>C	ENST00000399151.3	+	3	375	c.290A>C	c.(289-291)aAa>aCa	p.K97T	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	97					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGGGGACCAAATGGCTGGCC	0.458000													18	59					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534353	3534353	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:3534353A>C	ENST00000315677.3	-	10	2913	c.2318T>G	c.(2317-2319)aTt>aGt	p.I773S	DLGAP1_ENST00000515196.2_Missense_Mutation_p.I773S|DLGAP1_ENST00000400150.3_Missense_Mutation_p.I489S|DLGAP1_ENST00000581527.1_Missense_Mutation_p.I773S|DLGAP1_ENST00000584874.1_Missense_Mutation_p.I773S|DLGAP1_ENST00000581699.1_Missense_Mutation_p.I479S|DLGAP1_ENST00000539435.1_Missense_Mutation_p.I481S|DLGAP1_ENST00000534970.1_Missense_Mutation_p.I457S|DLGAP1_ENST00000400145.2_Missense_Mutation_p.I471S|DLGAP1_ENST00000400147.2_Missense_Mutation_p.I471S|DLGAP1_ENST00000400149.3_Missense_Mutation_p.I463S|DLGAP1_ENST00000400155.1_Missense_Mutation_p.I479S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	773					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATAGAGTCAATCCAGGGGTC	0.572000													13	40					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231049	1231049	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1231049G>A	ENST00000590083.1	-	9	1497	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	C19orf26_ENST00000215376.6_Missense_Mutation_p.P396L|C19orf26_ENST00000382477.2_Intron			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	432						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGAAGGGGGGCAAGGGCC	0.716000										HNSCC(14;0.022)			12	46					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637899	17637899	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:17637899A>C	ENST00000262077.2	-	16	1948	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	NUP153_ENST00000537253.1_Missense_Mutation_p.I681S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	650					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)			CCCAAACCCAATTCCACTAGA	0.448000													10	189					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065276	189065276	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:189065276G>A	ENST00000332517.3	+	5	985	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	282	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAGATGCTAAGAAAATTCAGC	0.512000													8	13					0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75182668	75182668	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75182668C>T	ENST00000341162.4	+	4	212	c.158C>T	c.(157-159)tCc>tTc	p.S53F	FCF1_ENST00000553615.1_Missense_Mutation_p.S38F|FCF1_ENST00000534938.2_Missense_Mutation_p.S41F	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	53					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CAACACCCTTCCTGCTTATTT	0.368000													50	72					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403377	124403377	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124403377C>T	ENST00000409039.3	+	64	11058	c.11033C>T	c.(11032-11034)gCc>gTc	p.A3678V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3678					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCTGATTGCCTTCTTAGAG	0.562000													3	16					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456044	5456044	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:5456044A>C	ENST00000222033.4	+	1	619	c.542A>C	c.(541-543)gAg>gCg	p.E181A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	181	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCCGGCTTCGAGGCGGCCATC	0.657000													22	66					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149753849	149753849	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149753849C>T	ENST00000451292.1	+	8	1091	c.983C>T	c.(982-984)tCc>tTc	p.S328F	TCOF1_ENST00000323668.7_Missense_Mutation_p.S251F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S328F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S328F|TCOF1_ENST00000394269.3_Missense_Mutation_p.S328F|TCOF1_ENST00000504761.2_Missense_Mutation_p.S328F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S251F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S328F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	328					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTAGCCTCCCAGACCAAG	0.632000													5	4					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77785366	77785366	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:77785366A>T	ENST00000407578.2	-	23	3618	c.3352T>A	c.(3352-3354)Tca>Aca	p.S1118T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1080T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1080T|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1080					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTTGTTCTGAGTCATTAAAA	0.348000													5	36					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42533085	42533085	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:42533085G>A	ENST00000282030.5	+	4	4076	c.3780G>A	c.(3778-3780)acG>acA	p.T1260T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1260						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTCATGCACGAAAAGATACT	0.537000									Schinzel-Giedion syndrome				25	4					0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75535249	75535249	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:75535249T>G	ENST00000394790.1	+	3	1450	c.1407T>G	c.(1405-1407)acT>acG	p.T469T	FUT11_ENST00000372841.3_Intron			Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	0					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					AAGGCAGGACTCATAACTATG	0.443000													14	20					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37584041	37584041	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:37584041G>A	ENST00000300651.6	-	10	875	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	MED1_ENST00000394287.3_Missense_Mutation_p.H218Y	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	218	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTCATTAAATGACCTATAAAA	0.299000										HNSCC(31;0.082)			16	0					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70715702	70715702	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70715702A>C	ENST00000370950.3	+	11	1172	c.1090A>C	c.(1090-1092)Aaa>Caa	p.K364Q	SRSF11_ENST00000370949.1_Missense_Mutation_p.K304Q|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.K364Q|SRSF11_ENST00000405432.1_Missense_Mutation_p.K364Q			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	364					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						TCCTAAAAGAAAATTGTCCCG	0.373000													7	61					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831647	72831647	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:72831647A>C	ENST00000268489.5	-	9	5606	c.4934T>G	c.(4933-4935)aTt>aGt	p.I1645S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.I731S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1645					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTCAAGGAAATACTGCTGCT	0.547000													15	24					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179048	107179048	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:107179048G>A	ENST00000390634.2	-	0	204																											AGAACCCAGAGAAGGTGCAGG	0.562000													24	64					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180246	117180246	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117180246C>T	ENST00000003084.6	+	8	1094	c.962C>T	c.(961-963)tCt>tTt	p.S321F	CFTR_ENST00000454343.1_Missense_Mutation_p.S321F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	321	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGTTTTTATCTGTGCTTCCC	0.433000									Cystic Fibrosis				14	59					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090946	115090946	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:115090946A>G	ENST00000361283.1	+	3	1938	c.1629A>G	c.(1627-1629)ccA>ccG	p.P543P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	543	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CTGCTTCTCCAGAAGCACGCA	0.527000													98	247					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814498	128814498	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:128814498T>G	ENST00000270861.5	+	11	2521	c.2247T>G	c.(2245-2247)tcT>tcG	p.S749S	PLK4_ENST00000513090.1_Silent_p.S717S|PLK4_ENST00000507249.1_Silent_p.S688S|PLK4_ENST00000515069.1_Silent_p.S671S|PLK4_ENST00000514379.1_Silent_p.S708S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	749					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CAGGGAAGTCTTACACTTTAA	0.303000													10	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099781	168099781	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168099781G>A	ENST00000409195.1	+	9	1968	c.1879G>A	c.(1879-1881)Gac>Aac	p.D627N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D405N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D627N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	452					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						CCAACCCATCGACACACTTGG	0.448000													24	19					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615701	1615701	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1615701G>A	ENST00000262965.5	-	17	1914	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	TCF3_ENST00000453954.2_Missense_Mutation_p.P440S|TCF3_ENST00000395423.3_Missense_Mutation_p.P473S|TCF3_ENST00000344749.5_Missense_Mutation_p.P524S|TCF3_ENST00000588136.1_Missense_Mutation_p.P524S	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	524					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCCCGGGGGGCCTTCAGC	0.682000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								29	96					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220178604	220178604	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220178604A>C	ENST00000366923.3	-	16	2318	c.2049T>G	c.(2047-2049)ccT>ccG	p.P683P	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	683	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CAGGTTCATAAGGTTGATCAC	0.328000													5	20					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15558294	15558294	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15558294C>T	ENST00000344577.2	-	3	617	c.592G>A	c.(592-594)Gga>Aga	p.G198R	LIPI_ENST00000536861.1_Missense_Mutation_p.G177R	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	177					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTTATTCTTCCAAGTTGACCA	0.313000													39	51					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104309240	104309240	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104309240C>T	ENST00000389120.3	+	7	976	c.886C>T	c.(886-888)Cta>Tta	p.L296L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	296					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGCAGAAGTCCTAGAACGGGT	0.453000													10	20					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274660	29274660	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29274660C>T	ENST00000377160.2	+	1	258	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AAGCACCTCTCTCTTCTGGAC	0.473000													50	169					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633451	70633451	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70633451G>A	ENST00000381269.2	-	2	2442	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	SLC8A3_ENST00000357887.3_Silent_p.I563I|SLC8A3_ENST00000528359.1_Silent_p.I563I|SLC8A3_ENST00000534137.1_Silent_p.I563I|SLC8A3_ENST00000356921.2_Silent_p.I563I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	563	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAAAGGGGACGATGACTGTAC	0.473000													38	37					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30409439	30409439	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30409439A>G	ENST00000333027.3	+	14	1740	c.1412A>G	c.(1411-1413)gAa>gGa	p.E471G	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.E335G|MTMR3_ENST00000406629.1_Missense_Mutation_p.E471G|MTMR3_ENST00000401950.2_Missense_Mutation_p.E471G|MTMR3_ENST00000351488.3_Missense_Mutation_p.E471G	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	471	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATCTGAATGAACGTTGCCCA	0.478000													32	129					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73110318	73110318	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:73110318C>T	ENST00000264839.7	+	30	4528	c.4528C>T	c.(4528-4530)Ccg>Tcg	p.P1510S	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Missense_Mutation_p.P188S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P1260S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1444S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1450S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P1340S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P795S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1444S|RIMS1_ENST00000538414.1_Missense_Mutation_p.P467S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P981S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P786S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1311S|RIMS1_ENST00000425662.2_Missense_Mutation_p.P729S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P1661S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1661					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTGTTCCCACCGTCCTCACT	0.532000													51	2					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27151171	27151171	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27151171G>A	ENST00000288699.6	+	5	807	c.649G>A	c.(649-651)Gag>Aag	p.E217K	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E217K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	217					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGGAATCGAGATCAGCCG	0.488000													9	20					0	0	1	0	0
POLR2E	5434	broad.mit.edu	37	19	1093967	1093967	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1093967C>T	ENST00000215587.7	-	2	451	c.168G>A	c.(166-168)acG>acA	p.T56T	POLR2E_ENST00000586746.1_Silent_p.T56T			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	56					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGAGGTCCGTGCGCCGCG	0.642000													20	26					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780311	121780311	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:121780311G>A	ENST00000261367.7	+	10	3045	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.K94K|SNCAIP_ENST00000379538.3_Silent_p.K126K|SNCAIP_ENST00000542191.1_Silent_p.K50K|SNCAIP_ENST00000379536.2_Silent_p.K432K|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.K492K|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.K539K|SNCAIP_ENST00000504884.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	492					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGGGGAAAAGCCCTCCCAGA	0.542000													21	30					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183920	48183920	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48183920T>C	ENST00000396720.3	+	6	1687	c.1493T>C	c.(1492-1494)cTg>cCg	p.L498P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	498							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCAGATCCTGGCGGCCGCT	0.706000													13	60					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847259	7847259	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7847259C>T	ENST00000328375.1	-	1	260	c.261G>A	c.(259-261)agG>agA	p.R87R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTTTCTTTCCTTAGGAAGC	0.507000													37	49					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823907	50823907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50823907G>A	ENST00000376959.2	-	3	2276	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	KCNC3_ENST00000474951.1_Nonsense_Mutation_p.R21*|KCNC3_ENST00000391818.2_Silent_p.T41T|KCNC3_ENST00000477616.1_Nonsense_Mutation_p.R705*			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	705					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AAGCAGGCTCGGTCCCGGCTA	0.647000													19	22					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513686	99513686	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:99513686G>A	ENST00000261037.3	+	5	1321	c.941G>A	c.(940-942)gGa>gAa	p.G314E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G314E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	314	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGATACCCGGAATTGGAAAG	0.657000													32	2					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101711405	101711405	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101711405C>T	ENST00000261637.4	+	22	2876	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	901					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAGATGAATCCTCACAGAAG	0.502000													11	1					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665881	20665881	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20665881C>T	ENST00000357366.3	+	1	387	c.387C>T	c.(385-387)atC>atT	p.I129I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACACCAAGATCATCTCGTTCT	0.483000													6	23					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65348784	65348784	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65348784A>C	ENST00000309295.4	+	8	1071	c.806A>C	c.(805-807)gAa>gCa	p.E269A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	269										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGAGCTAATGAAGCGGGGGGC	0.647000													5	28					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757110	71757110	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:71757110C>T	ENST00000318442.5	-	2	704	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCTGCTCCTTCGAAGACCCCG	0.572000													34	50					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129770447	129770447	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129770447A>C	ENST00000335420.5	+	10	1324	c.1190A>C	c.(1189-1191)aAg>aCg	p.K397T		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	397										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TCATTGTTTAAGATCTGGCTG	0.488000													30	102					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19027875	19027875	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:19027875C>T	ENST00000354791.3	-	17	1484	c.1243G>A	c.(1243-1245)Ggc>Agc	p.G415S	GPR64_ENST00000360279.4_Missense_Mutation_p.G409S|GPR64_ENST00000357544.3_Missense_Mutation_p.G401S|GPR64_ENST00000356606.4_Missense_Mutation_p.G417S|GPR64_ENST00000357991.3_Missense_Mutation_p.G428S|GPR64_ENST00000340581.3_Missense_Mutation_p.G401S|GPR64_ENST00000379869.3_Missense_Mutation_p.G431S|GPR64_ENST00000379873.2_Missense_Mutation_p.G431S|GPR64_ENST00000379876.1_Missense_Mutation_p.G407S|GPR64_ENST00000379878.3_Missense_Mutation_p.G415S			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	431					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGCTGTAGGCCAATGTCATCC	0.408000													39	0					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94944744	94944744	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:94944744A>T	ENST00000222381.3	-	4	491	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	PON1_ENST00000542556.1_Missense_Mutation_p.L87Q	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	87					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)	CAGGTCCATCAGAAGTATTTT	0.388000													4	45					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328102	57328102	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57328102C>T	ENST00000326441.9	-	10	2071	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E444K|PEG3_ENST00000423103.2_Missense_Mutation_p.E570K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E446K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	570					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGAAGGTTTCCTTACACACC	0.448000													51	108					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62936939	62936939	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:62936939A>G	ENST00000393630.3	+	20	2818	c.2427A>G	c.(2425-2427)atA>atG	p.I809M	MON2_ENST00000393629.2_Missense_Mutation_p.I809M|MON2_ENST00000552738.1_Missense_Mutation_p.I786M|MON2_ENST00000280379.6_Missense_Mutation_p.I809M|MON2_ENST00000552115.1_Missense_Mutation_p.I809M|MON2_ENST00000393632.2_Missense_Mutation_p.I809M|MON2_ENST00000546600.1_Missense_Mutation_p.I809M	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	809					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGCACCGAATAGAAATTCTGT	0.323000													5	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077847	9077847	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9077847G>A	ENST00000397910.4	-	3	9802	c.9599C>T	c.(9598-9600)cCa>cTa	p.P3200L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3201	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						AGACATTTCTGGGCTTCCTGG	0.433000													58	61					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68265234	68265234	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68265234A>C	ENST00000347230.4	-	11	1883	c.1745T>G	c.(1744-1746)cTt>cGt	p.L582R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L582R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	582					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGTGATGAGAAGCAATGAGAA	0.502000													16	53					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139181011	139181011	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:139181011G>A	ENST00000232217.2	-	2	251	c.195C>T	c.(193-195)ttC>ttT	p.F65F	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	65					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CTCCAACAGTGAAATCCACAT	0.443000													113	4					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56462756	56462756	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:56462756G>A	ENST00000370754.5	-	47	11883	c.11884C>T	c.(11884-11886)Ctt>Ttt	p.L3962F	DST_ENST00000312431.6_Missense_Mutation_p.L3782F|DST_ENST00000446842.2_Missense_Mutation_p.L3458F|DST_ENST00000370788.2_Missense_Mutation_p.L1696F|DST_ENST00000421834.2_Missense_Mutation_p.L1696F|DST_ENST00000370769.4_Missense_Mutation_p.L3784F|DST_ENST00000361203.3_Missense_Mutation_p.L3782F|DST_ENST00000244364.6_Missense_Mutation_p.L1370F			Q03001	DYST_HUMAN	dystonin	3782					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGTCCAAAAGGTTTTCTATT	0.458000													13	32					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17443708	17443708	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:17443708T>G	ENST00000400588.1	-	10	1747	c.1640A>C	c.(1639-1641)gAg>gCg	p.E547A		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	547										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTGGGTCTTCTCCAGATCCAC	0.597000													13	39					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			23	31					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100453	168100453	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168100453G>A	ENST00000409195.1	+	9	2640	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D629N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D851N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	676					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						CCAGCCATTAGACATTCTAAA	0.368000													66	43					0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16677345	16677345	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16677345A>T	ENST00000595753.1	-	4	771	c.754T>A	c.(754-756)Ttg>Atg	p.L252M	CTD-3222D19.2_ENST00000409035.1_3'UTR|SLC35E1_ENST00000431408.1_Missense_Mutation_p.L96M	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	252					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CAACTCACCAAGTCGCTGCTG	0.527000													8	33					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92983057	92983057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92983057C>T	ENST00000544910.1	+	27	2699	c.2479C>T	c.(2479-2481)Cga>Tga	p.R827*	CCDC132_ENST00000535481.1_Nonsense_Mutation_p.R577*|CCDC132_ENST00000305866.5_Nonsense_Mutation_p.R857*|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	857										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)			ATTGGCTAATCGAACTATTGT	0.338000													42	54					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7572239	7572239	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7572239A>C	ENST00000379802.3	+	15	2409	c.2068A>C	c.(2068-2070)Aac>Cac	p.N690H	DSP_ENST00000418664.2_Missense_Mutation_p.N690H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	690	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACTCTCAAAAACCTCCCTCT	0.463000													7	58					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164727139	164727139	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164727139G>A	ENST00000264382.3	-	35	4169	c.4107C>T	c.(4105-4107)tcC>tcT	p.S1369S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1369	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTCTGCTGTGGAAGTCCTGA	0.383000										HNSCC(35;0.089)			79	30					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335828	180335828	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180335828T>C	ENST00000231229.4	+	2	526	c.292T>C	c.(292-294)Tct>Cct	p.S98P	BTNL8_ENST00000340184.4_Missense_Mutation_p.S98P|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.S98P|BTNL8_ENST00000400707.3_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	98	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCGCATCTCTCTGAGGCT	0.522000													55	66					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100188359	100188359	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:100188359A>G	ENST00000554176.1	+	7	1339	c.673A>G	c.(673-675)Acc>Gcc	p.T225A	CYP46A1_ENST00000261835.3_Missense_Mutation_p.T378A|CYP46A1_ENST00000423126.2_Missense_Mutation_p.T281A			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	378					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAAGAGGAGACCTTGATTGA	0.622000													14	68					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399709	46399709	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46399709C>T	ENST00000292301.4	+	2	1176	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	CCR2_ENST00000400888.2_Missense_Mutation_p.R231W|CCR2_ENST00000445132.2_Missense_Mutation_p.R231W|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	231					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AACCCTGCTTCGGTGTCGAAA	0.448000													58	129					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210090	30210090	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30210090C>T	ENST00000518096.1	+	0	702																											CCCTCTCCGTCCATCAGTTGG	0.498000													12	38					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072163	41072163	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41072163C>T	ENST00000352632.3	+	30	6320	c.6234C>T	c.(6232-6234)agC>agT	p.S2078S	SPTBN4_ENST00000338932.3_Silent_p.S2078S|SPTBN4_ENST00000392025.1_Silent_p.S821S|SPTBN4_ENST00000598249.1_Silent_p.S2078S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2078					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGGGCAGCAGCGTGGATG	0.662000													8	4					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52867073	52867073	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52867073T>G	ENST00000371568.3	-	3	402	c.184A>C	c.(184-186)Aac>Cac	p.N62H	ORC1_ENST00000371566.1_Missense_Mutation_p.N62H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	62	BAH.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACATACGGGTTTTCATCATCA	0.418000													32	121					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15430674	15430674	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:15430674C>T	ENST00000376030.2	+	13	2331	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	679	SAM 3.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCGCCGTCTTCCACCCAGCCA	0.622000													4	8					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329730	152329730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152329730G>A	ENST00000388718.5	-	3	604	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	178	Ser-rich.						calcium ion binding|structural molecule activity	p.Q178*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATCTTTTCTGAGATCCCTCT	0.478000													88	99					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35808654	35808654	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:35808654C>T	ENST00000216122.4	+	8	1225	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MCM5_ENST00000382011.5_Silent_p.L314L|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	357	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGCCTGCTCTTTGGGGGCT	0.562000													25	28					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238259811	238259811	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238259811G>A	ENST00000295550.4	-	27	7230	c.6778C>T	c.(6778-6780)Cct>Tct	p.P2260S	COL6A3_ENST00000353578.4_Missense_Mutation_p.P2054S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2059S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2060S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1653S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2054S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2260	Collagen-like 4.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTTCTCCAGGAGCACCAGCG	0.572000													46	25					0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30560632	30560632	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30560632G>A	ENST00000221130.5	-	5	708	c.618C>T	c.(616-618)acC>acT	p.T206T	GSR_ENST00000537535.1_Silent_p.T206T|GSR_ENST00000541648.1_Silent_p.T206T|GSR_ENST00000546342.1_Silent_p.T206T|GSR_ENST00000414019.1_Silent_p.T163T	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	206					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TCTCATGAGGGGTGGAGGGCA	0.532000													60	88					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72339224	72339224	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:72339224C>T	ENST00000389916.4	+	5	519	c.381C>T	c.(379-381)acC>acT	p.T127T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	127	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGTTCAGACCCTCAACGACC	0.592000													9	17					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23549068	23549068	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23549068T>G	ENST00000376979.3	-	1	318	c.20A>C	c.(19-21)aAg>aCg	p.K7T		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	7						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAGACCTCCCTTCCACGGCAG	0.592000													3	29					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9550355	9550355	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:9550355A>C	ENST00000400556.3	-	17	2406	c.2333T>G	c.(2332-2334)gTt>gGt	p.V778G	PPP4R1_ENST00000400555.3_Missense_Mutation_p.V761G	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	778					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ATAGTCATAAACATCTCTGGG	0.328000													14	159					0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40558204	40558204	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:40558204C>T	ENST00000314529.6	+	5	1268	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	ZNF620_ENST00000418905.1_Silent_p.F259F	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGAAGGCATTCAATCAGAAAA	0.463000													33	16					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60540937	60540937	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:60540937G>A	ENST00000405633.3	+	5	557	c.478G>A	c.(478-480)Gat>Aat	p.D160N	MS4A15_ENST00000337911.4_Missense_Mutation_p.D67N|MS4A15_ENST00000528170.1_Missense_Mutation_p.D119N	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	160						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						TCTGCTCATGGATTTTGGTGT	0.572000													21	19					0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98108084	98108084	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:98108084C>T	ENST00000419479.1	-	6	688	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	OPALIN_ENST00000393870.2_Missense_Mutation_p.E60K|OPALIN_ENST00000393871.1_Missense_Mutation_p.E48K|OPALIN_ENST00000371172.3_Missense_Mutation_p.E71K|OPALIN_ENST00000536387.1_Missense_Mutation_p.E61K	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	71						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCTGAAATTTCACATGGTCTG	0.313000													14	2					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429218	139429218	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:139429218C>T	ENST00000272641.3	-	2	175	c.69G>A	c.(67-69)aaG>aaA	p.K23K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	23	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCACCACTTCCTTACTGTCAC	0.493000													24	34					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223157	67223157	+	Missense_Mutation	SNP	C	C	T	rs11605013		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67223157C>T	ENST00000325656.5	+	1	340	c.263C>T	c.(262-264)cCt>cTt	p.P88L	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	88					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGCATCCCCTGGGCCGGCC	0.692000													18	17					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153532	139153532	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139153532G>A	ENST00000395297.1	-	17	3869	c.3699C>T	c.(3697-3699)ttC>ttT	p.F1233F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1233										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTAATACCGGAACCGGGGCC	0.532000										HNSCC(54;0.14)			28	67					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157789812	157789812	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:157789812A>T	ENST00000358292.3	-	1	67	c.16T>A	c.(16-18)Ttg>Atg	p.L6M	FCRL1_ENST00000368176.3_Missense_Mutation_p.L6M|FCRL1_ENST00000491942.1_Missense_Mutation_p.L6M	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	6						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATCAACAGCAACAGCCTCGGC	0.532000													9	50					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10797124	10797124	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:10797124A>C	ENST00000361367.2	+	24	3465	c.3039A>C	c.(3037-3039)atA>atC	p.I1013I		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1013					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAAAGCCATAATTTCATCAA	0.343000													7	17					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034514	128034514	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128034514G>A	ENST00000338791.6	-	15	2040	c.1690C>T	c.(1690-1692)Ctt>Ttt	p.L564F	IMPDH1_ENST00000378717.4_Missense_Mutation_p.L495F|IMPDH1_ENST00000343214.4_Missense_Mutation_p.L454F|IMPDH1_ENST00000354269.5_Missense_Mutation_p.L554F|IMPDH1_ENST00000348127.6_Missense_Mutation_p.L528F|IMPDH1_ENST00000470772.1_Missense_Mutation_p.L478F|IMPDH1_ENST00000419067.2_Missense_Mutation_p.L531F|IMPDH1_ENST00000496200.1_Missense_Mutation_p.L454F|IMPDH1_ENST00000480861.1_Missense_Mutation_p.L474F	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	479					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACTCACCGAAGGACAGACAGG	0.587000													25	34					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169003	113169003	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:113169003G>A	ENST00000401783.2	-	38	9213	c.8877C>T	c.(8875-8877)ttC>ttT	p.F2959F	SVEP1_ENST00000297826.5_Silent_p.F885F|SVEP1_ENST00000374469.1_Silent_p.F2936F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2959	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACCATTAGGGAAACCATGGG	0.458000													50	141					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28917076	28917076	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28917076G>A	ENST00000358201.4	-	11	2028	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	RABEP2_ENST00000357573.6_Silent_p.S444S|RABEP2_ENST00000544477.1_Silent_p.S409S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	480					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGCTGCACAGGGAGGCTGGGA	0.662000													31	12					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62464069	62464069	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:62464069C>A	ENST00000383710.4	-	23	3545	c.3196G>T	c.(3196-3198)Gat>Tat	p.D1066Y	CADPS_ENST00000283269.9_Missense_Mutation_p.D1027Y|CADPS_ENST00000357948.3_Missense_Mutation_p.D987Y	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1066	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAAAACAGATCTTCTGAGGTG	0.483000													6	17					0.0293803	0.0293942	1	1	0
GGA1	26088	broad.mit.edu	37	22	38028516	38028516	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38028516C>T	ENST00000406772.1	+	17	2236	c.1584C>T	c.(1582-1584)ccC>ccT	p.P528P	GGA1_ENST00000381756.5_Silent_p.P618P|GGA1_ENST00000343632.4_Silent_p.P601P|GGA1_ENST00000337437.4_Silent_p.P568P|GGA1_ENST00000325180.8_Silent_p.P514P	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	601	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TTGCCAACCCCCAGAAGGTAA	0.627000													28	95					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422501	31422501	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31422501A>T	ENST00000389202.2	+	13	1510	c.1461A>T	c.(1459-1461)cgA>cgT	p.R487R		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	487					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCAGACCCGAGGGGGCCAGG	0.642000													24	102					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40955210	40955210	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40955210T>C	ENST00000372706.1	+	5	1362	c.356T>C	c.(355-357)cTt>cCt	p.L119P	ZFP69_ENST00000372705.3_Missense_Mutation_p.L119P|ZFP69_ENST00000482712.1_3'UTR					ZFP69 zinc finger protein																		GGATATCAACTTTCCAAACCT	0.423000													6	28					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185867924	185867924	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185867924C>T	ENST00000265022.3	-	25	2870	c.2331G>A	c.(2329-2331)aaG>aaA	p.K777K	DGKG_ENST00000344484.4_Silent_p.K752K|DGKG_ENST00000544847.1_Silent_p.K718K|DGKG_ENST00000447054.1_Intron|DGKG_ENST00000382164.4_Silent_p.K738K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	777					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGAAGCTGCTCTTCTGGGGAG	0.433000													25	9					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35530158	35530158	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:35530158A>G	ENST00000262631.5	+	4	723	c.586A>G	c.(586-588)Aat>Gat	p.N196D	SCN1B_ENST00000595652.1_Missense_Mutation_p.N125D	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	196					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCACAGGAGAATGCGTGAGT	0.602000													27	73					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72348220	72348220	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:72348220G>A	ENST00000430046.2	+	13	1175	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	FCHO2_ENST00000341845.6_Silent_p.K353K|FCHO2_ENST00000512348.1_Silent_p.K320K	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	353										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AAGAACCAAAGAAGTATCGGA	0.333000													4	7					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495964	205495964	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205495964A>C	ENST00000360066.2	+	8	1029	c.729_splice	c.e8+1	p.K243_splice	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Splice_Site_p.K273_splice|CDK18_ENST00000429964.2_Splice_Site_p.K243_splice	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	241	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CACAACGTCAAGGTGAGGCCT	0.622000													33	125					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74659762	74659762	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74659762T>G	ENST00000305557.5	-	3	689	c.104A>C	c.(103-105)gAg>gCg	p.E35A	RTKN_ENST00000484453.1_5'UTR|RTKN_ENST00000272430.5_Missense_Mutation_p.E48A|RTKN_ENST00000233330.6_5'UTR	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	48					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCGGATCTCATGGTCTAG	0.602000													15	64					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7622017	7622017	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:7622017G>A	ENST00000256861.6	-	9	1197	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	ITIH5_ENST00000397145.2_Silent_p.I373I|ITIH5_ENST00000446830.2_Silent_p.I155I|ITIH5_ENST00000397146.2_Silent_p.I373I|ITIH5_ENST00000298441.6_Silent_p.I159I|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	373	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGGCCCCGTTGATGTCTGTGC	0.567000													11	7					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7169887	7169887	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7169887A>C	ENST00000406697.1	+	6	742	c.114A>C	c.(112-114)aaA>aaC	p.K38N	C1S_ENST00000360817.5_Missense_Mutation_p.K38N|C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Missense_Mutation_p.K38N			P09871	C1S_HUMAN	complement component 1, s subcomponent	38	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGGTAGAGAAATCTTGGGACA	0.483000													4	97					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283416	33283416	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33283416G>A	ENST00000431845.2	-	2	1429	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	ZBTB22_ENST00000418724.1_Silent_p.I426I	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAAGACCAGGATCTGGTTGC	0.627000													81	101					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	611069	611069	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:611069A>G	ENST00000264555.5	+	17	4921	c.4793A>G	c.(4792-4794)aAg>aGg	p.K1598R	PHRF1_ENST00000533464.1_Missense_Mutation_p.K1594R|PHRF1_ENST00000416188.2_Missense_Mutation_p.K1597R|PHRF1_ENST00000413872.2_Missense_Mutation_p.K1596R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1598							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ATCCTGCGCAAGGCCGTGCAG	0.627000													4	18					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640660	99640660	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:99640660T>G	ENST00000345514.2	-	3	2566	c.2300A>C	c.(2299-2301)aAg>aCg	p.K767T	BCL11B_ENST00000443726.2_Missense_Mutation_p.K644T|BCL11B_ENST00000357195.3_Missense_Mutation_p.K838T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	838						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCGTGAGCTTGCTGCTCTG	0.617000			T	TLX3	T-ALL								11	36					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159657285	159657285	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:159657285C>T	ENST00000297267.9	+	12	4206	c.4006C>T	c.(4006-4008)Cct>Tct	p.P1336S	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1273S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1336						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAAGTCCTTCCTGGTAGTAA	0.413000													25	1					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42315685	42315685	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:42315685C>T	ENST00000217026.4	+	5	600	c.473C>T	c.(472-474)gCc>gTc	p.A158V	MYBL2_ENST00000396863.4_Missense_Mutation_p.A134V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	158	HTH myb-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AACCGCTGGGCCGAGATCGCC	0.617000													25	16					0	0	1	0	0
ILK	3611	broad.mit.edu	37	11	6629303	6629303	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6629303C>T	ENST00000396751.2	+	2	573	c.117C>T	c.(115-117)caC>caT	p.H39H	ILK_ENST00000299421.4_Silent_p.H39H|ILK_ENST00000528995.1_Silent_p.H39H|ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Silent_p.H39H	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	39	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CCCCCTTGCACTGGGCCTGCC	0.562000													25	21					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860250	228860250	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228860250G>A	ENST00000392056.3	-	8	4655	c.4609C>T	c.(4609-4611)Ctc>Ttc	p.L1537F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1537F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1537						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAGCTGGAGAAAGCTACTT	0.512000													100	65					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43581767	43581767	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43581767C>T	ENST00000372236.4	+	11	1910	c.1615C>T	c.(1615-1617)Cta>Tta	p.L539L	POLH_ENST00000535400.1_Silent_p.L477L|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	539					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AAGTCTGCTTCTAAAGCAGAA	0.423000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				26	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553827	179553827	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179553827T>G	ENST00000589042.1	-	125	32272	c.32048A>C	c.(32047-32049)aAa>aCa	p.K10683T	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K10366T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9439T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10366	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGCAACTTTCTCCTCTGG	0.408000													13	54					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834567	61834567	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61834567G>A	ENST00000280772.1	-	37	6263	c.6072C>T	c.(6070-6072)tcC>tcT	p.S2024S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2024					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCCTTTTCGGAGGCGGCTT	0.413000													29	20					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548097	47548097	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47548097C>T	ENST00000334194.3	+	4	459	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	152						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGAAAATATTCATCACCATGA	0.468000													50	32					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574883	28574883	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:28574883C>T	ENST00000220562.4	+	3	2209	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P52L	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	436						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATCATTACCCCCGGGGACCCT	0.632000													38	32					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6184666	6184666	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6184666C>T	ENST00000262450.3	-	30	4549	c.4450G>A	c.(4450-4452)Gag>Aag	p.E1484K	CHD5_ENST00000378021.1_Missense_Mutation_p.E341K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1484					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCGAAGGTCTCTGCACCATCC	0.677000													10	23					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696164	10696164	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:10696164C>T	ENST00000302079.6	-	43	6758	c.6759G>A	c.(6757-6759)agG>agA	p.R2253R	PIEZO2_ENST00000285141.4_Silent_p.R108R|PIEZO2_ENST00000580640.1_Silent_p.R2278R|PIEZO2_ENST00000503781.3_Silent_p.R2253R|PIEZO2_ENST00000538948.1_Silent_p.R210R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2253						integral to membrane	ion channel activity										GTACAGTCTTCCTGAGGTAGA	0.512000													65	44					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664671	160664671	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:160664671A>C	ENST00000366953.3	-	7	1470	c.1212T>G	c.(1210-1212)cgT>cgG	p.R404R	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	404					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCCAAGGGTAACGGCGTCCGA	0.502000													34	40					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146164	55146164	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55146164T>A	ENST00000396331.1	+	11	1790	c.1433T>A	c.(1432-1434)cTc>cAc	p.L478H	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.L478H|LILRB1_ENST00000396315.1_Missense_Mutation_p.L479H|LILRB1_ENST00000396317.1_Missense_Mutation_p.L462H|LILRB1_ENST00000418536.2_Missense_Mutation_p.L462H|LILRB1_ENST00000324602.7_Missense_Mutation_p.L479H|LILRB1_ENST00000427581.2_Missense_Mutation_p.L528H|LILRB1_ENST00000448689.1_Missense_Mutation_p.L478H|LILRB1_ENST00000396327.3_Missense_Mutation_p.L479H|LILRB1_ENST00000434867.2_Missense_Mutation_p.L478H|LILRB1_ENST00000396332.4_Missense_Mutation_p.L478H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	478					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		ctcctcctcctcctcttcctc	0.612000										HNSCC(37;0.09)			22	183					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230339	56230339	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56230339G>A	ENST00000279791.1	-	1	538	c.539C>T	c.(538-540)cCc>cTc	p.P180L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GATGAGAGGGGGATCTGCACA	0.413000													8	39					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269632	1269632	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1269632C>T	ENST00000447027.1	+	31	11589	c.11531C>T	c.(11530-11532)gCc>gTc	p.A3844V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A3841V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3841	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			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)		ACCACCACGGCCACCACAACC	0.627000													54	128					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117448247	117448247	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:117448247G>A	ENST00000455858.2	+	8	1234	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	FBXW8_ENST00000309909.5_Missense_Mutation_p.M453I	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	453							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGGCAACATGGACGGGAGGT	0.612000													26	39					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133160170	133160170	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:133160170A>G	ENST00000253861.4	+	8	1300	c.1271A>G	c.(1270-1272)gAg>gGg	p.E424G	EXOC4_ENST00000539845.1_Missense_Mutation_p.E323G|EXOC4_ENST00000393161.2_Missense_Mutation_p.E424G	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	424					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACTGGACGAGAGTTTGCAGCC	0.383000													7	139					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887368	7887368	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:7887368C>T	ENST00000377532.3	+	17	2603	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.F785F			P56645	PER3_HUMAN	period circadian clock 3	785	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGACCTTCCCACCTGCCG	0.697000													76	40					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32738123	32738123	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32738123T>A	ENST00000421745.2	+	54	10604	c.10470T>A	c.(10468-10470)tcT>tcA	p.S3490S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3490					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGATGCCATCTCCTTCTCATT	0.453000													19	40					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713437	70713437	+	RNA	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70713437C>A	ENST00000530196.1	-	0	1081					NR_003951.1																						ACGACATATTCCTGCAATGTA	0.418000													57	77					1.3268e-25	1.33962e-25	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803068	185803068	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185803068G>A	ENST00000302277.6	+	4	3539	c.2945G>A	c.(2944-2946)gGa>gAa	p.G982E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	982						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTCCACAAGGAAAGATGAAT	0.418000													31	53					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18042554	18042554	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18042554C>T	ENST00000250018.2	-	10	1881	c.1319G>A	c.(1318-1320)aGg>aAg	p.R440K	TPH1_ENST00000341556.2_Intron|RP1-59M18.2_ENST00000525523.1_RNA	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	440					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTCGGCTTCCTGCTGACCTT	0.483000													61	81					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961046	133961046	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:133961046C>T	ENST00000361069.4	+	25	4299	c.4166C>T	c.(4165-4167)cCt>cTt	p.P1389L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1389	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AACGCGGCCCCTCTTTCCTCC	0.587000													23	21					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32709223	32709223	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32709223G>A	ENST00000374940.3	+	1	105	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	1					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAAGAAGATGATCCTAAACA	0.537000													5	12					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745609	19745609	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19745609G>A	ENST00000203556.4	-	17	2016	c.1879C>T	c.(1879-1881)Ctt>Ttt	p.L627F	GMIP_ENST00000445806.2_Missense_Mutation_p.L598F|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.L601F	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	627	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACCTCCTGAAGAAATCGCTTG	0.642000													58	56					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809550	48809550	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48809550T>C	ENST00000309835.3	+	1	1788	c.1778T>C	c.(1777-1779)cTg>cCg	p.L593P	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L593P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L593P|STON1_ENST00000404752.1_Missense_Mutation_p.L593P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L593P|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.L593P|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L593P|STON1_ENST00000406226.1_Missense_Mutation_p.L593P					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGAAGTCTCTGAAAGCTAAA	0.473000													7	58					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403078	248403078	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248403078C>T	ENST00000306687.1	+	1	848	c.848C>T	c.(847-849)cCt>cTt	p.P283L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			ATTCTCACCCCTATGCTGAAC	0.438000													13	54					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26709213	26709213	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:26709213G>A	ENST00000381340.3	-	36	5333	c.4917C>T	c.(4915-4917)ttC>ttT	p.F1639F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1639					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTCCCTCAGGGAACAGCAGTT	0.488000													18	71					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41172439	41172439	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41172439C>T	ENST00000263413.3	-	9	1443	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.E393E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	393	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGCTTCTTCCTCGGTTAAAC	0.423000													35	9					0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564675	49564675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:49564675G>A	ENST00000301411.3	-	2	720	c.580C>T	c.(580-582)Cga>Tga	p.R194*	NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Nonsense_Mutation_p.R194*	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	194					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTGTCAATTCGAATCCATCGC	0.602000													22	33					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104044090	104044090	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:104044090G>A	ENST00000265148.3	-	43	7170	c.7081C>T	c.(7081-7083)Cct>Tct	p.P2361S	CENPE_ENST00000380026.3_Missense_Mutation_p.P2240S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2361	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTGTGGTAGGATTAACCTGG	0.368000													47	32					0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578049	48578049	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48578049A>G	ENST00000316554.3	+	1	684	c.144A>G	c.(142-144)aaA>aaG	p.K48K		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	48						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						AGCACCTGAAAGCCCAGCTGC	0.662000													21	196					0	0	1	0	0
EMC1	23065	broad.mit.edu	37	1	19571474	19571474	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:19571474G>A	ENST00000477853.1	-	2	188	c.146C>T	c.(145-147)cCt>cTt	p.P49L	EMC1_ENST00000356068.2_Missense_Mutation_p.P49L|EMC1_ENST00000375199.3_Missense_Mutation_p.P49L|EMC1_ENST00000375208.3_Missense_Mutation_p.P49L	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		CTTGGATCCAGGGGAAAATTC	0.448000													64	53					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158829578	158829578	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:158829578T>G	ENST00000262178.2	-	7	798	c.613A>C	c.(613-615)Agc>Cgc	p.S205R	VIPR2_ENST00000402066.1_Missense_Mutation_p.S346R|VIPR2_ENST00000377633.3_Missense_Mutation_p.S189R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	205					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AAGACCAGGCTCAGCTTGCAG	0.602000													4	38					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:178507032C>T	ENST00000315475.6	+	5	1905	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383000													27	22					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927486	176927486	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176927486C>T	ENST00000367654.2	-	10	1768	c.1755G>A	c.(1753-1755)gaG>gaA	p.E585E	ASTN1_ENST00000367657.3_Silent_p.E577E|ASTN1_ENST00000424564.2_Silent_p.E577E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.E577E			O14525	ASTN1_HUMAN	astrotactin 1	585					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCACCTGACCTCCACAGCAT	0.532000													26	29					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186074	53186074	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53186074C>T	ENST00000417996.2	-	5	1211	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	KRT3_ENST00000309505.3_Silent_p.E379E	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	379	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCGATATCCTCATACTGTG	0.542000													8	19					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964913	42964913	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42964913C>T	ENST00000399770.2	+	2	389	c.389C>T	c.(388-390)cCa>cTa	p.P130L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	130	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTCAGCAACCATCAACTGAT	0.363000													26	94					0	0	1	0	0
GLT8D1	55830	broad.mit.edu	37	3	52731836	52731836	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52731836A>C	ENST00000407584.3	-	5	1080	c.230T>G	c.(229-231)cTt>cGt	p.L77R	GLT8D1_ENST00000491606.1_Missense_Mutation_p.L77R|GLT8D1_ENST00000266014.5_Missense_Mutation_p.L77R|GLT8D1_ENST00000478968.2_Missense_Mutation_p.L77R|GLT8D1_ENST00000394783.3_Missense_Mutation_p.L77R	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	77						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCCCCCCCAAGCCTGTCTTC	0.493000													21	62					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10799891	10799891	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10799891C>T	ENST00000449870.1	+	20	2917	c.2600C>T	c.(2599-2601)tCc>tTc	p.S867F	ILF3_ENST00000588657.1_Missense_Mutation_p.S867F|ILF3_ENST00000318511.3_Missense_Mutation_p.S863F|ILF3_ENST00000590261.1_Missense_Mutation_p.S863F|ILF3_ENST00000586544.1_3'UTR	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	863	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)			TCCCCGGGGTCCGGCCAGAAC	0.602000													110	161					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76802270	76802270	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76802270G>A	ENST00000312010.6	-	15	2508	c.2184C>T	c.(2182-2184)gtC>gtT	p.V728V	USP36_ENST00000542802.2_Silent_p.V728V|USP36_ENST00000449938.2_Silent_p.V428V	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	728					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGGAGGCAACGACGGGGTGAG	0.632000													29	49					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225745	9225745	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9225745A>C	ENST00000328194.3	-	4	731	c.411T>G	c.(409-411)ttT>ttG	p.F137L	DENND5A_ENST00000530044.1_Missense_Mutation_p.F137L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	137	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTTCATAAAATGTGAGGG	0.507000													8	44					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796680	21796680	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21796680A>G	ENST00000206660.6	+	18	2993	c.2993A>G	c.(2992-2994)cAg>cGg	p.Q998R	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q324R|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q357R|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q655R|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q998R|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q960R			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	998	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGGAGCACCAGGTTGTGAGC	0.428000													11	37					0	0	1	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749751	22749751	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:22749751C>T	ENST00000390298.2	+	0	309																											GGGGGCAAAGCTGCCCTGACA	0.552000													10	69					0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717443	2717443	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2717443T>C	ENST00000323469.4	-	2	545	c.362A>G	c.(361-363)aAc>aGc	p.N121S	DIRAS1_ENST00000585334.1_Missense_Mutation_p.N121S	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	121					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCGCACTTGTTGCCCACGAG	0.632000													13	40					0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196054289	196054289	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196054289C>T	ENST00000446879.1	-	2	298	c.173G>A	c.(172-174)gGa>gAa	p.G58E	TM4SF19_ENST00000454715.1_Missense_Mutation_p.G58E|TM4SF19_ENST00000273695.3_Missense_Mutation_p.G58E			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	58						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGCCCAGTTCCCAGCATGGC	0.622000													63	72					0	0	1	0	0
CCNG1	900	broad.mit.edu	37	5	162866326	162866326	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:162866326G>A	ENST00000340828.2	+	2	288	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000512163.1_Intron|CCNG1_ENST00000510664.1_5'UTR|CCNG1_ENST00000393929.1_Missense_Mutation_p.E22K	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	22					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TGCCCTGTTGGAACAGGAGTC	0.433000													19	29					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188066	57188066	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:57188066G>A	ENST00000331162.4	-	5	1326	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACAGGCATAGGGTTTCTCTC	0.433000													6	15					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852481	137852481	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:137852481C>T	ENST00000409968.1	+	4	1167	c.989C>T	c.(988-990)tCc>tTc	p.S330F	THSD7B_ENST00000543459.1_Missense_Mutation_p.S189F|THSD7B_ENST00000413152.2_Missense_Mutation_p.S299F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S330F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGTTCAGTCCTGCATCATG	0.463000													26	71					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86503462	86503462	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:86503462G>A	ENST00000297814.2	-	8	2168	c.2025C>T	c.(2023-2025)tcC>tcT	p.S675S	KIF27_ENST00000376347.1_Silent_p.S66S|KIF27_ENST00000413982.1_Silent_p.S675S|KIF27_ENST00000334204.2_Silent_p.S675S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	675					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATTCAACAAGGGAACAAACAG	0.343000													11	24					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99537226	99537226	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:99537226C>T	ENST00000376460.1	-	21	2461	c.2382_splice	c.e21+1	p.R794_splice	DOCK9_ENST00000448493.2_Splice_Site_p.R806_splice|DOCK9_ENST00000339416.2_Splice_Site_p.R795_splice|DOCK9_ENST00000442173.1_Splice_Site_p.R794_splice	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	795	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGACATACCCTGCCCATCCC	0.458000													9	9					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142227281	142227281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142227281G>T	ENST00000519067.1	-	5	1787	c.1484C>A	c.(1483-1485)tCg>tAg	p.S495*	SLC45A4_ENST00000024061.3_Nonsense_Mutation_p.S495*|SLC45A4_ENST00000433583.2_Nonsense_Mutation_p.S488*|SLC45A4_ENST00000517878.1_Nonsense_Mutation_p.S546*			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	546					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCGAGTTCGAGGGGGCCTG	0.627000													38	23					1.30998e-17	1.32075e-17	1	1	0
PGAP1	80055	broad.mit.edu	37	2	197767465	197767465	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:197767465A>C	ENST00000354764.3	-	5	765	c.649_splice	c.e5-1	p.D217_splice	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Splice_Site_p.D175_splice|PGAP1_ENST00000409475.1_Splice_Site_p.D217_splice	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	217					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCGTATAAAAATCTGGTGGGG	0.328000													3	20					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068427	57068427	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57068427G>A	ENST00000532437.1	-	9	5371	c.5060C>T	c.(5059-5061)tCg>tTg	p.S1687L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1687L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1687	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCAGGATTTCGAACGCTGGAC	0.607000													44	71					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117023162	117023162	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117023162G>A	ENST00000284629.2	-	7	752	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	230					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GTAAGTTGAAGATCTGAAAAA	0.279000													5	12					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155208012	155208012	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155208012T>G	ENST00000428024.2	-	5	915	c.413A>C	c.(412-414)aAg>aCg	p.K138T	GBA_ENST00000368373.3_Missense_Mutation_p.K225T|GBA_ENST00000536770.1_Missense_Mutation_p.K112T|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000327247.5_Missense_Mutation_p.K225T|GBA_ENST00000427500.2_Missense_Mutation_p.K176T	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	225					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCCATTGGTCTTGAGCCAAGT	0.567000									Gaucher disease type I				4	36					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1258330	1258330	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1258330A>T	ENST00000447027.1	+	25	3300	c.3242A>T	c.(3241-3243)aAg>aTg	p.K1081M	MUC5B_ENST00000529681.1_Missense_Mutation_p.K1078M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1078	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			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)		CCCTTCCGCAAGTCCTGGGCC	0.697000													11	56					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816380	67816380	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67816380T>G	ENST00000265686.3	+	14	1697	c.1589T>G	c.(1588-1590)cTc>cGc	p.L530R	TCIRG1_ENST00000532635.1_Missense_Mutation_p.L314R	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	530					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TTGAGCTTCCTCAACTCCTTC	0.612000													33	116					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951568	30951568	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30951568C>T	ENST00000402321.1	-	3	961	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R215Q|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R215Q|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R215Q|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R215Q|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R215Q|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R215Q			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	215					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAGCAGGTTTCGGAGGTAGTG	0.627000													55	41					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231875	7231875	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7231875C>T	ENST00000379938.2	+	10	4080	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RREB1_ENST00000349384.6_Silent_p.I1181I|RREB1_ENST00000334984.6_Silent_p.I1181I|RREB1_ENST00000379933.3_Silent_p.I1181I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1181					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TTGCCAGCATCGAGAAGATGC	0.642000													17	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457754	179457754	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179457754C>T	ENST00000589042.1	-	300	59316	c.59092G>A	c.(59092-59094)Gat>Aat	p.D19698N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N|TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18057N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18057	Fibronectin type-III 42.						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)			CAAGTTAGATCGACTGAATTG	0.393000													22	56					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34485217	34485217	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:34485217C>T	ENST00000242317.4	+	3	330	c.159C>T	c.(157-159)gaC>gaT	p.D53D	DNAI1_ENST00000488369.1_3'UTR|DNAI1_ENST00000545019.1_Silent_p.D53D	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	53					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GACCCCCTGACCAGCTGGAGT	0.493000									Kartagener syndrome				20	48					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461747	12461747	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12461747A>C	ENST00000242804.4	-	6	1234	c.652T>G	c.(652-654)Ttt>Gtt	p.F218V	ZNF442_ENST00000438182.1_Missense_Mutation_p.F149V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GGCCAAAAAAAGGCTTTCCCA	0.408000													20	119					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640671	140640671	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:140640671A>C	ENST00000509479.2	-	5	4079	c.3223T>G	c.(3223-3225)Ttt>Gtt	p.F1075V	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1071					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CTTGGAGCAAAGCTGCCACTG	0.622000													10	36					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924036	230924036	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:230924036A>T	ENST00000295190.4	-	2	491	c.33T>A	c.(31-33)gaT>gaA	p.D11E		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	11						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATCTTCAAAATCATACCCAA	0.378000													4	21					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34534414	34534414	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:34534414G>A	ENST00000354181.3	-	17	2543	c.2051C>T	c.(2050-2052)tCt>tTt	p.S684F	SLC12A6_ENST00000290209.5_Missense_Mutation_p.S633F|SLC12A6_ENST00000560164.1_Missense_Mutation_p.S496F|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S684F|SLC12A6_ENST00000458406.2_Missense_Mutation_p.S625F|SLC12A6_ENST00000558589.1_Missense_Mutation_p.S675F|SLC12A6_ENST00000397702.2_Missense_Mutation_p.S625F|SLC12A6_ENST00000558667.1_Missense_Mutation_p.S684F|SLC12A6_ENST00000397707.2_Missense_Mutation_p.S669F|SLC12A6_ENST00000451844.2_Missense_Mutation_p.S496F			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	684					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCCCATGAAAGAAAGGGCCCT	0.363000													18	23					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701465	13701465	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13701465G>A	ENST00000265104.4	-	77	13523	c.13419C>T	c.(13417-13419)ttC>ttT	p.F4473F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4473					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCGGCCATTGAAAACCCACG	0.438000									Kartagener syndrome				33	147					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1761768	1761768	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:1761768C>T	ENST00000381241.3	+	9	1182	c.983C>T	c.(982-984)tCt>tTt	p.S328F	ASMT_ENST00000381233.3_Missense_Mutation_p.S253F|ASMT_ENST00000381229.4_Missense_Mutation_p.S300F	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	300					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCTCTACTCTCTGAACATG	0.542000													37	34					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771254	37771254	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37771254G>A	ENST00000402918.1	-	3	1106	c.321C>T	c.(319-321)gtC>gtT	p.V107V	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.V107V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	107						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCAGCTGCAGGACCTGCAGGC	0.602000													32	33					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203869	5203869	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5203869C>T	ENST00000334314.3	-	3	404	c.328G>A	c.(328-330)Gga>Aga	p.G110R						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TAGTCCGGTCCAAGTTTCTTC	0.408000													14	26					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76649193	76649193	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76649193C>T	ENST00000264917.5	+	10	1174	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	PDE8B_ENST00000342343.4_Missense_Mutation_p.L357F|PDE8B_ENST00000333194.4_Missense_Mutation_p.L377F|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.L330F	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	377					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TTTTGTCTCGCTCAAGAAACT	0.373000													6	17					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288342	61288342	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61288342T>C	ENST00000217159.1	+	2	741	c.536T>C	c.(535-537)cTt>cCt	p.L179P	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.L179P	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	179					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GGCGTGCTGCTTATGGGCACG	0.682000													16	88					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73760003	73760003	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:73760003G>A	ENST00000588479.1	-	2	904	c.330C>T	c.(328-330)gtC>gtT	p.V110V	GALK1_ENST00000225614.2_Silent_p.V110V|GALK1_ENST00000437911.1_Silent_p.V140V			P51570	GALK1_HUMAN	galactokinase 1	110					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCACTCCCTTGACATAGTTGG	0.612000													6	18					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360753	27360753	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27360753G>A	ENST00000335524.3	-	3	970	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	149	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCggggtgggaaggg	0.612000													25	8					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678420	100678420	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100678420A>G	ENST00000306151.4	+	3	3787	c.3723A>G	c.(3721-3723)acA>acG	p.T1241T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1241	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACATCTCCCGTTG	0.522000													21	477					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021605	96021605	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96021605T>C	ENST00000297954.4	+	11	2775	c.2775T>C	c.(2773-2775)ccT>ccC	p.P925P	WNK2_ENST00000349097.3_Silent_p.P537P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.P537P|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.P925P			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	925					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGACGTCCCTCCTTCCCCCC	0.672000													11	18					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130074013	130074013	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130074013A>C	ENST00000373387.4	+	3	670	c.319_splice	c.e3+1	p.Q106_splice	GARNL3_ENST00000435213.2_Splice_Site_p.Q84_splice|GARNL3_ENST00000314904.5_Splice_Site_p.Q106_splice	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	106					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTTTAGGACAAGGTAATTATG	0.398000													7	35					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828774	57828774	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57828774A>G	ENST00000309668.2	+	1	232	c.105A>G	c.(103-105)gaA>gaG	p.E35E	INHBC_ENST00000550133.1_Silent_p.E35E	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	35					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCACCTTGGAACTGGAGAGCC	0.612000													8	20					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32637595	32637595	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:32637595A>C	ENST00000335185.5	-	15	1309	c.1266T>G	c.(1264-1266)acT>acG	p.T422T	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	422										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCTTGCTCAGTATTATATT	0.284000													5	14					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10360946	10360946	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10360946G>A	ENST00000255381.2	-	16	1798	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	563	Myosin head-like.				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						GAAGTTGTTGGATTTTCCAAG	0.527000													43	62					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379484	379484	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:379484C>T	ENST00000329962.6	+	15	2271	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	757						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGTCGCTTCCTGCTGGAGC	0.706000													7	12					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399579	40399579	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:40399579G>A	ENST00000338305.6	-	2	1816	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	425	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAAGCACAGCCCGTTCCGG	0.632000													33	44					0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001264	13001264	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:13001264C>T	ENST00000376189.1	-	3	518	c.419G>A	c.(418-420)aGg>aAg	p.R140K	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.R140K|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	140										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCTCATCCTTGGACAGTC	0.512000													32	741					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56918116	56918116	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:56918116G>A	ENST00000438926.2	+	14	1854	c.1825_splice	c.e14+1	p.E609_splice	SLC12A3_ENST00000566786.1_Splice_Site_p.E608_splice|SLC12A3_ENST00000262502.5_Splice_Site_p.E608_splice|SLC12A3_ENST00000563236.1_Splice_Site_p.E609_splice	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	609					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CAAGAAGCCAGGTGCGCATCT	0.657000													23	5					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629151	80629151	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:80629151T>G	ENST00000369816.4	-	5	955	c.655A>C	c.(655-657)Act>Cct	p.T219P		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	219					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGCAACATAGTCAGGTATCGT	0.333000													3	26					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121508954	121508954	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121508954T>G	ENST00000310864.6	-	11	1309	c.1095A>C	c.(1093-1095)gaA>gaC	p.E365D	IQCB1_ENST00000349820.6_Missense_Mutation_p.E232D	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	365					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCAGCTGCAATTCTCGGGAAA	0.373000													6	153					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165308	139165308	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139165308C>T	ENST00000395297.1	-	13	1580	c.1410G>A	c.(1408-1410)atG>atA	p.M470I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	470										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCAGAATCCATTTGGGATG	0.373000										HNSCC(54;0.14)			30	18					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56532359	56532359	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:56532359A>T	ENST00000245157.5	-	13	2069	c.1649T>A	c.(1648-1650)cTt>cAt	p.L550H	BBS2_ENST00000568104.1_Missense_Mutation_p.L550H	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	550					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CTCTCCACTAAGTTTTATTTT	0.363000									Bardet-Biedl syndrome				7	10					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148106497	148106497	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148106497C>T	ENST00000361727.3	+	23	4246	c.3730C>T	c.(3730-3732)Cca>Tca	p.P1244S	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P303S|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1244					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGGATTTTCCATATAATCC	0.408000										HNSCC(39;0.1)			9	33					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175726	55175726	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55175726C>T	ENST00000391736.1	+	6	760	c.445C>T	c.(445-447)Cca>Tca	p.P149S	LILRB4_ENST00000391733.3_Missense_Mutation_p.P149S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P149S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P149S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P149S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	149	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTCACGGAGCCCAATGGACAC	0.567000													48	110					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33764265	33764265	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:33764265G>A	ENST00000403687.3	+	12	2006	c.1266G>A	c.(1264-1266)agG>agA	p.R422R	RASGRP3_ENST00000402538.3_Silent_p.R422R|RASGRP3_ENST00000407811.1_Silent_p.R421R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	422	EF-hand 1.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCACATAAGGAAATTAGTGG	0.512000													5	6					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323100	31323100	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:31323100G>A	ENST00000269197.5	+	12	3288	c.3288G>A	c.(3286-3288)acG>acA	p.T1096T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1096					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTGGAAAGACGAGAACTCTGG	0.567000													40	0					0	0	1	0	0
GOSR1	9527	broad.mit.edu	37	17	28811246	28811246	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:28811246C>T	ENST00000225724.5	+	3	239	c.167C>T	c.(166-168)cCc>cTc	p.P56L	GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.P54L|GOSR1_ENST00000581721.1_Missense_Mutation_p.P56L	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	56					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GATACAACACCCCTTTTAAAT	0.343000													53	7					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24521638	24521638	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:24521638T>C	ENST00000355123.4	-	13	1833	c.1390A>G	c.(1390-1392)Aga>Gga	p.R464G	ITSN2_ENST00000361999.3_Missense_Mutation_p.R464G|ITSN2_ENST00000406921.3_Missense_Mutation_p.R464G	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	464					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCGAATTCTCTCCCATTCT	0.348000													22	59					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38885522	38885522	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38885522C>T	ENST00000274276.3	+	6	1177	c.775C>T	c.(775-777)Cct>Tct	p.P259S	OSMR_ENST00000502536.1_Missense_Mutation_p.P259S	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	259					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACTTGGGATCCTGGGACGGA	0.443000													25	111					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483977	43483977	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:43483977C>T	ENST00000395891.1	+	11	1811	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	HECW1_ENST00000453890.1_Silent_p.P402P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAGTGTCCCCGATGGTCCAG	0.597000													20	35					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220138	50220138	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:50220138T>G	ENST00000002829.3	+	9	1309	c.825T>G	c.(823-825)ctT>ctG	p.L275L	SEMA3F_ENST00000413852.1_Silent_p.L176L|SEMA3F_ENST00000434342.1_Silent_p.L244L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	275	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ATGATAAGCTTTACTTCTTCT	0.612000													26	87					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144381566	144381566	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:144381566A>G	ENST00000262995.4	+	9	2246	c.1819A>G	c.(1819-1821)Act>Gct	p.T607A	GAB1_ENST00000262994.4_Missense_Mutation_p.T577A|GAB1_ENST00000505913.1_Missense_Mutation_p.T474A	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	577					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GCATAGCACAACTTCAAGCAG	0.408000													32	107					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850100	73850100	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73850100A>C	ENST00000523207.1	+	3	3098	c.2510A>C	c.(2509-2511)aAg>aCg	p.K837T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	837					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTTGCAGATAAGCCTAGTGAT	0.517000													14	60					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166795	140166795	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140166795A>C	ENST00000504120.2	+	1	920	c.920A>C	c.(919-921)aAa>aCa	p.K307T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.K307T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.K307T	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATTGATAAACTGGATTAT	0.358000													9	39					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883060	228883060	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228883060C>T	ENST00000392056.3	-	7	2556	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G837E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	837						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCTGCTATTCCTTTCAGATA	0.478000													19	46					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5295004	5295004	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:5295004C>T	ENST00000546004.1	-	2	258	c.12G>A	c.(10-12)caG>caA	p.Q4Q	PROKR2_ENST00000217270.3_Silent_p.Q4Q			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	4						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGTTTCCATTCTGGGCTGCCA	0.522000										HNSCC(71;0.22)			31	30					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142942	31142942	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31142942G>A	ENST00000304166.4	+	14	1427	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E408K|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.E359K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E436K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	380					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGCAAAAGGGAAAGACTCGT	0.587000													54	61					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476094	42476094	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42476094A>C	ENST00000434000.1	-	9	3399	c.3117T>G	c.(3115-3117)aaT>aaG	p.N1039K	GPATCH8_ENST00000591680.1_Missense_Mutation_p.N1117K			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1117						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCCCAGCTTTATTAGGGGTGG	0.537000													7	91					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98208121	98208121	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:98208121T>C	ENST00000284049.3	-	26	3859	c.3710_splice	c.e26+1	p.Q1237_splice		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1237					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCACTCACTGCTTTCTTTC	0.323000													8	13					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412681	43412681	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:43412681T>G	ENST00000310826.5	-	3	1707	c.1524A>C	c.(1522-1524)gaA>gaC	p.E508D	ZBTB21_ENST00000398499.1_Missense_Mutation_p.E508D|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E508D|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E508D|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CAAAATTATCTTCTGACACAG	0.458000													21	76					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151463383	151463383	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:151463383T>C	ENST00000356517.3	+	4	627	c.518T>C	c.(517-519)cTt>cCt	p.L173P		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	173						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAAAAAATTCTTACAAAATAT	0.423000													153	6					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141090	143141090	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143141090G>A	ENST00000332690.1	+	1	545	c.545G>A	c.(544-546)gGc>gAc	p.G182D	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	182					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AATGTCACTGGCGATAGCATA	0.408000													82	86					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225279	153225279	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153225279G>A	ENST00000310441.7	-	8	2384	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	HCFC1_ENST00000369984.4_Missense_Mutation_p.S473F|HCFC1_ENST00000354233.3_Missense_Mutation_p.S404F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	473					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGGCACAGAAATGGAGCT	0.662000													65	2					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55362682	55362682	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:55362682C>T	ENST00000326321.3	+	2	75	c.42C>T	c.(40-42)ttC>ttT	p.F14F	KIR3DL2_ENST00000270442.5_Silent_p.F14F|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	14					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGTTCTTCTTGCTGCAGG	0.562000													83	111					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111695344	111695344	+	Missense_Mutation	SNP	T	T	G	rs143255461	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111695344T>G	ENST00000435970.1	-	15	4796	c.3980A>C	c.(3979-3981)aAt>aCt	p.N1327T	REV3L_ENST00000358835.3_Missense_Mutation_p.N1405T|REV3L_ENST00000368802.3_Missense_Mutation_p.N1405T|REV3L_ENST00000368805.1_Missense_Mutation_p.N1405T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1405					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTAGGGAATTGCGATATTC	0.373000								DNA polymerases (catalytic subunits)					16	34					0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629584	113629584	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:113629584G>A	ENST00000548278.1	+	4	1464	c.772G>A	c.(772-774)Ggt>Agt	p.G258S	C12orf52_ENST00000549621.1_Missense_Mutation_p.G258S|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.G282S	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	258	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						CCCACGACGAGGTGGGGCCAC	0.602000													30	2					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691727	31691727	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31691727G>C	ENST00000375809.3	+	2	384	c.373G>C	c.(373-375)Gac>Cac	p.D125H	C6orf25_ENST00000375810.4_Missense_Mutation_p.D125H|C6orf25_ENST00000480039.1_Missense_Mutation_p.D125H|C6orf25_ENST00000375805.2_Missense_Mutation_p.D125H	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	125						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CGTGCTGGGGGACAGGACCTA	0.642000													25	121					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76785632	76785632	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:76785632G>A	ENST00000286719.7	-	16	2325	c.1969C>T	c.(1969-1971)Cta>Tta	p.L657L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	657	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGGTCTCTAGGTTGGATCGG	0.353000													20	8					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882720	15882720	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:15882720C>T	ENST00000285670.2	-	6	850	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.G158S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	158					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATAGGGGCCATCGTCATCC	0.498000													42	46					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815450	30815450	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30815450A>T	ENST00000313401.3	+	2	1501	c.812A>T	c.(811-813)aAg>aTg	p.K271M		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	271					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			ATGAGCTCAAAGATGCTGCAG	0.567000													8	85					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62979530	62979530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:62979530G>A	ENST00000251157.5	-	32	4009	c.3976C>T	c.(3976-3978)Cga>Tga	p.R1326*	DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R1295*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1326					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAAGGCTTCGACTTGATTCT	0.408000													69	77					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918695	43918695	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:43918695A>G	ENST00000261488.6	-	9	1592	c.1015T>C	c.(1015-1017)Tta>Cta	p.L339L	ENOX1_ENST00000412891.1_Silent_p.L339L|ENOX1_ENST00000540032.1_Silent_p.L152L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	339					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATCCCAGTTAAGGCATTTTTA	0.408000													5	64					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37584326	37584326	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:37584326T>C	ENST00000399151.3	+	7	920	c.835T>C	c.(835-837)Tca>Cca	p.S279P	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	279					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGCATTCTCTCAGCCGCCAC	0.483000													5	91					0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21742415	21742415	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:21742415G>A	ENST00000314759.5	-	4	579	c.455C>T	c.(454-456)tCt>tTt	p.S152F	SKA3_ENST00000400018.3_Missense_Mutation_p.S152F	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	152					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACTACGTGGAGACTTCTCAGA	0.428000													42	45					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045918	76045918	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:76045918C>T	ENST00000238667.4	+	1	959	c.603C>T	c.(601-603)atC>atT	p.I201I	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	201					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCTCCCGCATCGCTTCCGTCT	0.587000													23	35					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383161	152383161	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152383161C>T	ENST00000271835.3	-	3	459	c.397G>A	c.(397-399)Gag>Aag	p.E133K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	133					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCCCTCATAATGCTGC	0.632000													172	178					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690808	38690808	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38690808G>A	ENST00000449981.2	+	2	332	c.223G>A	c.(223-225)Gat>Aat	p.D75N						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTTCTTCCAGATGATCATGA	0.512000													33	30					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91549210	91549210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:91549210C>T	ENST00000509176.1	+	6	2047	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*	CCSER1_ENST00000432775.2_Nonsense_Mutation_p.Q587*|CCSER1_ENST00000333691.8_Nonsense_Mutation_p.Q587*	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GGACGTTGATCAAGAAGCCAG	0.433000													17	29					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110118	106110118	+	RNA	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106110118T>C	ENST00000390545.2	-	0	499																											TGGCTTTGTCTTGGCATTATG	0.612000													51	171					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51452217G>A	ENST00000336334.3	-	4	842	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	KLK5_ENST00000593428.1_Missense_Mutation_p.R164C|KLK5_ENST00000391809.2_Missense_Mutation_p.R164C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	164	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R164C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547000													31	48					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366447	248366447	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248366447C>T	ENST00000456743.1	+	1	116	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			CCCACACCTTCCTCTTCTTTC	0.507000													113	146					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492122	103492122	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:103492122C>T	ENST00000602836.1	+	9	1333	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	BIVM_ENST00000448849.2_Silent_p.F251F|BIVM_ENST00000257336.1_Silent_p.F473F|BIVM_ENST00000419638.1_3'UTR	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GTGCTAGTTTCCATCAGGACT	0.468000													93	68					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14923709	14923709	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:14923709T>A	ENST00000338981.3	+	30	5324	c.4379T>A	c.(4378-4380)cTc>cAc	p.L1460H	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1460					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGTGCTAATCTCATTAAAGTA	0.438000													12	9					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24625908	24625908	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:24625908A>G	ENST00000379145.1	-	3	278	c.234T>C	c.(232-234)ctT>ctC	p.L78L	PCYT1B_ENST00000356768.4_Silent_p.L96L|PCYT1B_ENST00000379144.2_Silent_p.L96L	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	96	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTGCTTGCATAAGGGCTCTTG	0.418000													20	1					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262274	167262274	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167262274C>T	ENST00000409855.1	-	25	4991	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1622					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCTTGTTTTCGTTTCAAAGT	0.363000													33	74					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622515	156622515	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156622515C>T	ENST00000329117.4	+	8	2109	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.A591A	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	591					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGAGGGTGCCCCTTCCCTGC	0.632000													29	24					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686365	100686365	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100686365C>T	ENST00000306151.4	+	3	11732	c.11668C>T	c.(11668-11670)Cct>Tct	p.P3890S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3890						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTAGCTTTCCTGGGGCCAG	0.478000													69	63					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500928	118500928	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:118500928T>A	ENST00000311085.8	+	21	5003	c.4923T>A	c.(4921-4923)atT>atA	p.I1641I	DMXL1_ENST00000539542.1_Silent_p.I1641I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1641										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGCTGCCATTTTTTACCTTG	0.299000													10	12					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848524	166848524	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:166848524C>T	ENST00000423058.2	-	26	5278	c.5261G>A	c.(5260-5262)gGa>gAa	p.G1754E	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1726E|SCN1A_ENST00000303395.4_Missense_Mutation_p.G1754E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1743E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1754						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCACAGTCTCCCTTAACTGA	0.473000													53	109					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90741857	90741857	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:90741857G>A	ENST00000406263.1	+	12	1459	c.1016_splice	c.e12-1	p.K339_splice	CDK14_ENST00000380050.3_Splice_Site_p.K385_splice|CDK14_ENST00000436577.2_Splice_Site_p.K256_splice|CDK14_ENST00000265741.3_Splice_Site_p.K367_splice			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	385	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.K367N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATGTTTTTAGGCTCAGCTATG	0.428000													95	85					0	0	1	0	0
PRSS41	360226	broad.mit.edu	37	16	2854974	2854974	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2854974C>T	ENST00000399677.1	+	0	798							Q7RTY9	PRS41_HUMAN	protease, serine, 41						proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										AGGTTGGAATCGTGAGCTGGG	0.582000													4	0					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676054	73676054	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:73676054A>C	ENST00000339764.1	+	4	1217	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000540886.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	156					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTTTGGCTGCACCAAAAAAAT	0.562000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	36					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45821198	45821198	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45821198T>C	ENST00000221476.3	-	3	407	c.233A>G	c.(232-234)gAt>gGt	p.D78G		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	78	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGACTCCTCATCACCAGCCAC	0.582000													5	45					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546095	11546095	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:11546095C>T	ENST00000389362.4	-	3	952	c.917G>A	c.(916-918)gGa>gAa	p.G306E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.602000													138	241					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163898	12163898	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:12163898C>T	ENST00000379388.2	+	9	7693	c.7361C>T	c.(7360-7362)cCt>cTt	p.P2454L	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P319L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2454					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTACAAACCCTGCTGGAGTG	0.527000													39	43					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8457067	8457067	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:8457067C>T	ENST00000447869.1	-	10	2038	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	STK33_ENST00000358872.3_Missense_Mutation_p.E187K|STK33_ENST00000315204.1_Missense_Mutation_p.E374K|STK33_ENST00000534493.1_Missense_Mutation_p.E333K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396673.1_Missense_Mutation_p.E374K|STK33_ENST00000396672.1_Missense_Mutation_p.E374K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	374	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCTAGTAGTTCCTTAGCTGTG	0.294000													7	6					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911790	101911790	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:101911790T>C	ENST00000537097.1	+	6	3762	c.2949T>C	c.(2947-2949)acT>acC	p.T983T	GPRASP1_ENST00000415986.1_Silent_p.T983T|GPRASP1_ENST00000444152.1_Silent_p.T983T|GPRASP1_ENST00000361600.5_Silent_p.T983T|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	983	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAACAGGACTGACAATGGAA	0.502000													17	42					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114514536	114514536	+	Missense_Mutation	SNP	G	G	A	rs147397910	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114514536G>A	ENST00000369558.1	+	15	3336	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	HIPK1_ENST00000426820.2_Missense_Mutation_p.R1035H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1001H|HIPK1_ENST00000369559.4_Missense_Mutation_p.R1035H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R990H|HIPK1_ENST00000369553.1_Missense_Mutation_p.R641H|HIPK1_ENST00000369555.2_Missense_Mutation_p.R990H|HIPK1_ENST00000340480.4_Missense_Mutation_p.R661H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R641H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1035	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGCTCAACGCGGGGGGACC	0.527000													4	62					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738526	18738526	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18738526C>T	ENST00000513874.1	-	10	1134	c.995G>A	c.(994-996)gGa>gAa	p.G332E	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	332								p.G332E(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTCATCTCTCCCAGGAACTT	0.537000													35	40					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79434619	79434619	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:79434619T>G	ENST00000264895.6	+	65	10527	c.10087T>G	c.(10087-10089)Tta>Gta	p.L3363V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3358					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTGCACAACTTACATTTTCT	0.473000													4	112					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266898	48266898	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48266898G>A	ENST00000302329.3	+	1	291	c.243G>A	c.(241-243)agG>agA	p.R81R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGCTGAAAGGAAAGTCATAT	0.507000													21	99					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49400021	49400021	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49400021A>C	ENST00000418115.1	-	4	700	c.316T>G	c.(316-318)Ttc>Gtc	p.F106V	RHOA_ENST00000422781.1_Missense_Mutation_p.F106V|RHOA_ENST00000454011.2_Missense_Mutation_p.I65M	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	106					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TTGGGACAGAAATGCTTGACT	0.443000													28	65					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421961	153421961	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153421961A>C	ENST00000369951.4	+	5	997	c.937A>C	c.(937-939)Agt>Cgt	p.S313R		NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	313					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTTGCCAAAAGTGCCACTAT	0.537000													6	307					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190527	105190527	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:105190527T>G	ENST00000257700.2	+	8	1253	c.1022T>G	c.(1021-1023)cTt>cGt	p.L341R		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	341	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTCAAGTACTTATGTGGATT	0.363000													16	45					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552441	47552441	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47552441A>C	ENST00000300527.4	+	28	3139	c.3035A>C	c.(3034-3036)gAc>gCc	p.D1012A		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	1012	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCTTCTTCGACCGCTTCATC	0.692000													6	22					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902766	40902766	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40902766T>G	ENST00000324001.7	-	7	1763	c.1493A>C	c.(1492-1494)aAa>aCa	p.K498T	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	498	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTGACACTTTGGGCAGCTC	0.577000													4	221					0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15095521	15095521	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:15095521C>T	ENST00000228945.4	-	6	685	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D181N|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D181N	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	181					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TGCTTGTCATCGTCGGTGAAG	0.567000													57	79					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584030	7584030	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7584030A>C	ENST00000379802.3	+	24	6876	c.6535A>C	c.(6535-6537)Aag>Cag	p.K2179Q	DSP_ENST00000418664.2_Missense_Mutation_p.K1580Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2179	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTCACCAAAAAGAAGGTCAG	0.483000													20	57					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652071	88652071	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:88652071G>A	ENST00000340700.5	-	7	1876	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	KCNK10_ENST00000312350.5_Silent_p.T480T|KCNK10_ENST00000319231.5_Silent_p.T480T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	475					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AATTCCGGAAGGTCTTGTAGA	0.493000													47	59					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35317100	35317100	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35317100G>A	ENST00000373803.2	-	4	237	c.181C>T	c.(181-183)Cat>Tat	p.H61Y	NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000349004.1_Missense_Mutation_p.H61Y|NDRG3_ENST00000359675.2_Missense_Mutation_p.H49Y			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	61					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CCAATGTCATGATATGTTAGT	0.348000													41	43					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173804044	173804044	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:173804044G>A	ENST00000506823.1	+	8	1684	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	GALNTL6_ENST00000508122.1_Missense_Mutation_p.E326K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	343	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGAACAGTATGAAATCTCTTT	0.423000													19	33					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8169308	8169308	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8169308T>G	ENST00000314666.6	+	21	2807	c.2674T>G	c.(2674-2676)Ttc>Gtc	p.F892V	PFAS_ENST00000545834.1_Missense_Mutation_p.F468V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	892					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGTGCGGGCCTTCAGCATCAC	0.637000													6	51					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97078948	97078948	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:97078948G>A	ENST00000524981.3	+	9	1299	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E				Q6ZTY8	CL063_HUMAN		407										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACTACAGTGAGGAGTTTCTGT	0.488000													18	2					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233841	84233841	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:84233841G>A	ENST00000536636.1	+	3	1026	c.681G>A	c.(679-681)gcG>gcA	p.A227A	PRSS35_ENST00000369700.3_Silent_p.A227A	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGAGAGAGCGAAGGGTGGGA	0.542000													22	6					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118582580	118582580	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:118582580G>A	ENST00000263239.2	+	9	1399	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	424	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGAAGAACCGAAAGAAGAAG	0.383000													18	34					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107586827	107586827	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107586827G>A	ENST00000374736.3	-	18	2969	c.2575C>T	c.(2575-2577)Cct>Tct	p.P859S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	859					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGCAAGGAAAATACCAG	0.507000													11	35					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583407	119583407	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:119583407G>A	ENST00000267260.4	+	9	1381	c.993G>A	c.(991-993)ggG>ggA	p.G331G		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	331	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.G331fs*37(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGATTCAGGGAACTCCTTCA	0.612000													8	2					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22380958	22380958	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:22380958G>A	ENST00000263160.3	+	4	895		c.e4-1			NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6						sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTCTATTTCAGGGTTTTCGGA	0.338000													14	16					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35936669	35936669	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35936669G>A	ENST00000490799.1	-	11	1703	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	SLC26A8_ENST00000355574.2_Silent_p.F450F|SLC26A8_ENST00000394602.2_Silent_p.F345F	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	450					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCAGTGTGTAGAAAAAGTGTC	0.502000													16	25					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271967	22271967	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22271967C>T	ENST00000594947.1	+	4	1559	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	472					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)				AACCAGTCTTCACACCTTACT	0.403000													18	27					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398122	23398122	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:23398122T>G	ENST00000379361.4	+	2	1626	c.766T>G	c.(766-768)Tca>Gca	p.S256A		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	256					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACGTCCTCCTCACTGAGGGA	0.507000													48	91					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549429	127549429	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127549429C>T	ENST00000373580.3	+	2	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	89										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGCCGCTGCTCCTGTACCGCA	0.612000													29	16					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132525	59132525	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59132525C>T	ENST00000313940.2	+	1	641	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTGTACAGGTCATGACTGCTA	0.408000													59	58					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796645	11796645	+	RNA	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11796645A>T	ENST00000344893.3	+	0	2644					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CTCACACTGGAGAGAAGTCCT	0.398000													10	25					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003403	34003403	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34003403G>A	ENST00000382491.3	-	28	4607	c.4483C>T	c.(4483-4485)Cct>Tct	p.P1495S	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1581S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1542S|SYNJ1_ENST00000357345.3_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1542	Pro-rich.						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						AGAGGGACAGGAGGTGGAGGA	0.507000													44	50					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937147	43937147	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:43937147T>C	ENST00000282406.4	+	12	2095	c.1985T>C	c.(1984-1986)gTg>gCg	p.V662A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	662	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTCCTCTGTGGCTTCTGAA	0.463000													4	106					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30469915	30469915	+	Silent	SNP	G	G	A	rs114133712	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30469915G>A	ENST00000355904.4	-	5	732	c.450C>T	c.(448-450)gcC>gcT	p.A150A		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	150					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GCCTAAGTAGGGCCTTCTTAT	0.423000													31	25					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99718719	99718719	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:99718719A>C	ENST00000523601.1	-	8	1143	c.744T>G	c.(742-744)ccT>ccG	p.P248P	STK3_ENST00000419617.2_Silent_p.P220P	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	220	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TATCAGCATAAGGAGGTTTTC	0.388000													9	35					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116289864	116289864	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:116289864T>G	ENST00000606080.1	-	3	951	c.505A>C	c.(505-507)Aga>Cga	p.R169R	FRK_ENST00000538210.1_Silent_p.R27R	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	169	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TCATCCAGTCTTTTAATTCTG	0.378000													4	50					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600036	81600036	+	Missense_Mutation	SNP	C	C	T	rs79127167		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:81600036C>T	ENST00000356860.3	-	27	2497	c.2159G>A	c.(2158-2160)cGa>cAa	p.R720Q	CACNA2D1_ENST00000535308.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R732Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	732						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CACAACAAATCGTGCTTTCAC	0.363000													34	43					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634898	6634898	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6634898G>A	ENST00000333172.6	+	3	899	c.706G>A	c.(706-708)Ggg>Agg	p.G236R	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.G236R	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	236					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACTGGTCAGGGGATCTGCAT	0.622000													29	81					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988065	61988065	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:61988065T>C	ENST00000392824.4	-	2	291	c.230A>G	c.(229-231)cAc>cGc	p.H77R	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	77						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ACTTCCCCAGTGGGGGAAAGT	0.547000													4	132					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345534	92345534	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:92345534C>T	ENST00000377067.3	+	3	791	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	140						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCTGCTTCGGTTCAGGAG	0.408000													27	54					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95782666	95782666	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95782666T>G	ENST00000375482.3	+	13	1950	c.1454T>G	c.(1453-1455)tTc>tGc	p.F485C	FGD3_ENST00000416701.2_Missense_Mutation_p.F485C|FGD3_ENST00000337352.6_Missense_Mutation_p.F485C|FGD3_ENST00000538555.1_Missense_Mutation_p.F88C	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	485					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGTGGCGCCTTCAGCCAGGAT	0.572000													9	15					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207498095	207498095	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207498095A>G	ENST00000367064.3	+	3	736	c.478_splice	c.e3+1	p.K160_splice	CD55_ENST00000367065.5_Splice_Site_p.K160_splice|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367063.2_Splice_Site_p.K160_splice|CD55_ENST00000391920.4_Splice_Site_p.K160_splice|CD55_ENST00000367062.4_Splice_Site_p.K160_splice|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391921.4_Intron|CD55_ENST00000314754.8_Splice_Site_p.K160_splice	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	160	Sushi 2.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ATTTTGTAAAAGTGAGTAAAA	0.348000													11	45					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5246403	5246403	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:5246403C>T	ENST00000380448.1	+	5	569	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F	AKR1C4_ENST00000263126.1_Missense_Mutation_p.L106F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	106					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	ACTGAAAAAACTTCAACTGGA	0.398000													44	55					0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26687576	26687576	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26687576A>G	ENST00000292114.3	+	4	490	c.400A>G	c.(400-402)Agc>Ggc	p.S134G	TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.S134G|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	134						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGGGACTCTCAGCGACCTGGG	0.473000													5	53					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11389887	11389887	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:11389887T>G	ENST00000315872.6	-	4	810	c.362A>C	c.(361-363)aAg>aCg	p.K121T	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	121	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTAAGAAGCTTCATAGCATA	0.358000													7	72					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11728653	11728653	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11728653A>T	ENST00000361113.5	+	4	1543	c.1335A>T	c.(1333-1335)aaA>aaT	p.K445N	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTGGAGAGAAACCCTATGAGA	0.423000													13	77					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536540	130536540	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130536540G>A	ENST00000314830.8	-	2	357	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	82					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.R82C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGCTGGGGCGAGGCATGGTG	0.637000													12	24					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72493731	72493731	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:72493731C>T	ENST00000373208.1	+	8	1308	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	ADAMTS14_ENST00000373207.1_Silent_p.F433F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	433	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGGCTGCCTTCCACCGCTTCC	0.642000													50	2					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109857339	109857339	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109857339A>C	ENST00000256637.6	-	18	2370	c.2312T>G	c.(2311-2313)gTc>gGc	p.V771G	SORT1_ENST00000538502.1_Missense_Mutation_p.V634G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	771					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCCTGCTACGACTGTGACCAG	0.423000													6	48					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600170	31600170	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31600170C>T	ENST00000376033.2	+	16	3954	c.3720C>T	c.(3718-3720)ccC>ccT	p.P1240P	PRRC2A_ENST00000376007.4_Silent_p.P1240P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1240	4 X 57 AA type A repeats.|Poly-Arg.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGAGCGACCCCGAAGGAGGC	0.617000													44	49					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435546	158435546	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158435546C>T	ENST00000289451.2	+	1	275	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTTGCCATCCTTTCTTGCT	0.483000													52	82					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991875	67991875	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67991875G>A	ENST00000422611.2	-	3	460	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	SLC12A4_ENST00000576616.1_Silent_p.L139L|SLC12A4_ENST00000537830.2_Silent_p.L133L|SLC12A4_ENST00000338335.3_Silent_p.L139L|SLC12A4_ENST00000316341.3_Silent_p.L139L|SLC12A4_ENST00000541864.2_Silent_p.L108L|SLC12A4_ENST00000572037.1_Silent_p.L91L|SLC12A4_ENST00000572010.1_5'UTR	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	139					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCAGCCGCAGGAAGAGGATA	0.602000													18	1					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104513	5104513	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5104513C>T	ENST00000396912.1	+	5	1945	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	RBAK_ENST00000353796.3_Missense_Mutation_p.R476W|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	476	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CATTAGACATCGGAAAGTACA	0.358000													34	21					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95951398	95951398	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:95951398C>T	ENST00000317620.9	+	16	2020	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	PROM2_ENST00000403131.2_Silent_p.P629P|PROM2_ENST00000317668.4_Silent_p.P629P|PROM2_ENST00000542147.1_Silent_p.P580P	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	629						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCAGAGGCCCGTGGTGAAGA	0.652000													8	4					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396751	220396751	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220396751G>A	ENST00000358078.4	+	3	1151	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Silent_p.R379R			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	379						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CAGGTATTCGGGTGCAGATCC	0.632000													113	74					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110687912	110687912	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110687912G>A	ENST00000394634.2	-	2	333	c.126C>T	c.(124-126)tcC>tcT	p.S42S	CFI_ENST00000512148.1_Silent_p.S42S|CFI_ENST00000510800.1_Silent_p.S42S|CFI_ENST00000394635.3_Silent_p.S42S	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	42					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTTTATCGCAGGAGAGGTGAG	0.423000													15	32					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605737	58605737	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:58605737G>A	ENST00000267485.7	-	2	534	c.340C>T	c.(340-342)Cct>Tct	p.P114S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	114						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GACTCAGTAGGTGTGGAAACA	0.478000													36	42					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74720107	74720107	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74720107A>G	ENST00000445478.2	-	3	755	c.552T>C	c.(550-552)acT>acC	p.T184T	JMJD6_ENST00000585429.1_Silent_p.T184T|JMJD6_ENST00000397625.4_Silent_p.T184T	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	184	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TGTGAATCCCAGTTCCGGAGC	0.502000													7	98					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190611207	190611207	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:190611207A>C	ENST00000520309.1	+	23	4247	c.4159A>C	c.(4159-4161)Aaa>Caa	p.K1387Q	ANKAR_ENST00000313581.4_Missense_Mutation_p.K1387Q|ANKAR_ENST00000431575.2_Missense_Mutation_p.K1316Q|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1387						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAAAGCAACAAAAAAGACCAA	0.323000													23	74					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122932	36122932	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36122932G>A	ENST00000249044.2	+	3	817	c.817G>A	c.(817-819)Gct>Act	p.A273T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	273					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTTCTGGACGGCTAGAGGGGT	0.522000													118	97					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228774	142228774	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:142228774G>A	ENST00000519067.1	-	4	1115	c.812C>T	c.(811-813)cCc>cTc	p.P271L	SLC45A4_ENST00000024061.3_Missense_Mutation_p.P271L|SLC45A4_ENST00000433583.2_Missense_Mutation_p.P264L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P322L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	322					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGCAGCTCGGGCTCCAGGTC	0.667000													65	68					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150130	27150130	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27150130G>A	ENST00000288699.6	+	4	588	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E144K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	144					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGAAAGCAGAAATGGAGAC	0.557000													5	9					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50127735	50127735	+	RNA	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50127735T>A	ENST00000376025.2	-	0	2494							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGGCTTGTCTGGTTAATATC	0.388000													36	50					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062912	170062912	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170062912C>T	ENST00000263816.3	-	39	7603	c.7318G>A	c.(7318-7320)Gcc>Acc	p.A2440T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2440					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)	ACTCCAGAGGCTAAATTTTGT	0.438000													12	11					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182635135	182635135	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:182635135T>C	ENST00000483095.2	-	5	419	c.162A>G	c.(160-162)gcA>gcG	p.A54A	RGS8_ENST00000367557.4_Silent_p.A54A|RGS8_ENST00000367556.1_Silent_p.A54A|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Silent_p.A72A			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	54					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CAAAGGAATCTGCCCACCTCG	0.403000													36	111					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993603	76993603	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76993603G>A	ENST00000302345.2	-	2	596	c.102C>T	c.(100-102)gcC>gcT	p.A34A	CANT1_ENST00000591773.1_Silent_p.A34A|CANT1_ENST00000392446.5_Silent_p.A34A	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	34					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGGGTCCGCGGCCTTGGTCA	0.667000			T	ETV4	prostate								10	0					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54040660	54040660	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:54040660C>T	ENST00000373980.4	+	13	1932	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000401604.2_Silent_p.L490L|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Silent_p.L478L|PRKG1_ENST00000373975.2_Silent_p.L208L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAAAATCTCATCCTAGATC	0.388000													14	4					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641519	36641519	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:36641519A>G	ENST00000373448.2	-	3	938	c.700T>C	c.(700-702)Tct>Cct	p.S234P	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.S234P|TTI1_ENST00000449821.1_Missense_Mutation_p.S234P	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	234							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTAGGGAAGATACGACAATG	0.438000													10	136					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989466	53989466	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:53989466G>A	ENST00000514921.1	+	3	528	c.415G>A	c.(415-417)Gat>Aat	p.D139N	MLIP_ENST00000502396.1_Missense_Mutation_p.D150N|MLIP_ENST00000274897.5_Missense_Mutation_p.D139N|MLIP_ENST00000358276.5_Missense_Mutation_p.D133N|MLIP_ENST00000370877.2_Missense_Mutation_p.D87N|MLIP_ENST00000370876.2_Missense_Mutation_p.D77N|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.D87N			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	139						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CGAAGGGGAAGATGAGGCTGC	0.507000													34	62					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825741	76825741	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:76825741T>A	ENST00000248598.5	-	2	1207	c.1175A>T	c.(1174-1176)aAa>aTa	p.K392I	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	392	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GTGATAATATTTGCCATTTAA	0.463000													6	71					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297625	36297625	+	Silent	SNP	C	C	T	rs139352995		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36297625C>T	ENST00000301175.3	-	7	1031	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	338					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCTTCACCCGGGCTGTTCC	0.657000													17	27					0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22360657	22360657	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:22360657T>G	ENST00000268383.2	-	4	756	c.449A>C	c.(448-450)gAc>gCc	p.D150A		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	150						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTTCTCCTGGTCACACTTTCC	0.542000													9	115					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155126596	155126596	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:155126596C>T	ENST00000367178.3	+	9	1533	c.957C>T	c.(955-957)ctC>ctT	p.L319L	SCAF8_ENST00000367186.4_Silent_p.L385L|SCAF8_ENST00000417268.1_Silent_p.L319L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	319	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.L319L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GACAGCAGCTCTTGGAGCAGC	0.373000													27	2					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37028483	37028483	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37028483G>A	ENST00000379242.3	+	13	1400	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	VIT_ENST00000404084.1_Silent_p.T303T|VIT_ENST00000401530.1_Silent_p.T330T|VIT_ENST00000379241.3_Silent_p.T329T|VIT_ENST00000389975.3_Silent_p.T351T|VIT_ENST00000497382.1_Silent_p.T20T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	351	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACACACACGAATTCTCGAG	0.393000													108	70					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979005	119979005	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119979005C>T	ENST00000307142.4	+	5	3898	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAATCATGTCCATGGAAACCA	0.433000													25	43					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095312	81095312	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81095312C>T	ENST00000378611.4	-	3	757	c.642G>A	c.(640-642)ctG>ctA	p.L214L	C16orf46_ENST00000299578.5_Silent_p.L214L|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	214										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GTGAAGCCTTCAGGGGAGGCA	0.547000													90	9					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176531	111176531	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:111176531G>A	ENST00000267328.3	-	2	399	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	62				F -> I (in Ref. 2; BAA91171).	protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCAGGCCGTGGAACTGCTCCC	0.612000													34	23					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3888854	3888854	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3888854T>G	ENST00000497424.1	+	2	348	c.37T>G	c.(37-39)Ttc>Gtc	p.F13V	PANK2_ENST00000316562.4_Missense_Mutation_p.F304V|PANK2_ENST00000336066.3_Intron	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	304					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGATAAAAACTTCTCGAGTCT	0.423000													9	37					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404475	20404475	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20404475C>T	ENST00000285600.4	+	1	709	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTAATTATTTCCTACACCATC	0.433000													17	35					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4609034	4609034	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4609034G>A	ENST00000312614.4	+	1	1014	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R331L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACAACTGCGGGAGAGAATA	0.473000													71	98					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475197	5475197	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5475197C>T	ENST00000341449.2	+	1	560	c.479C>T	c.(478-480)cCc>cTc	p.P160L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCCTCTTCCCTTTCTTATT	0.498000													32	45					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640390	7640390	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7640390C>T	ENST00000359156.4	-	7	1916	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	CD163_ENST00000541972.1_Missense_Mutation_p.D560N|CD163_ENST00000396620.3_Missense_Mutation_p.D572N|CD163_ENST00000432237.2_Missense_Mutation_p.D572N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	572	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACTCCAACATCCCTGCTGTGG	0.483000													39	69					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111701243	111701243	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:111701243T>C	ENST00000435970.1	-	13	1978	c.1162A>G	c.(1162-1164)Agt>Ggt	p.S388G	REV3L_ENST00000358835.3_Missense_Mutation_p.S466G|REV3L_ENST00000368802.3_Missense_Mutation_p.S466G|REV3L_ENST00000368805.1_Missense_Mutation_p.S466G			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	466					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATCACCAAACTAAGCTCCATT	0.343000								DNA polymerases (catalytic subunits)					13	81					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33317986	33317986	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33317986T>G	ENST00000378526.4	+	5	1027	c.894T>G	c.(892-894)ggT>ggG	p.G298G	LIG3_ENST00000262327.5_Silent_p.G298G	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	298					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTCCAGATGGTTTCCACGGTG	0.423000								Other BER factors					9	74					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55655720	55655720	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:55655720G>A	ENST00000247191.2	-	2	394	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L60F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	60					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCAACAAGAATTCTACCT	0.348000													22	27					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485496	60485496	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:60485496G>A	ENST00000360469.5	+	9	1295	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	CDH4_ENST00000543233.1_Missense_Mutation_p.E329K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	403	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding	p.E403K(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGTCCCCGAAAACCGCGT	0.522000													18	19					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733735	152733735	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152733735G>A	ENST00000368773.1	+	2	1729	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	KPRP_ENST00000606109.1_Silent_p.Q557Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	557						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGGGTCAGGATGGCCATG	0.537000													25	49					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36887777	36887777	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36887777C>T	ENST00000301807.6	-	16	5268	c.3371G>A	c.(3370-3372)aGa>aAa	p.R1124K	TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1674K|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1124K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1674					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACAAAATCTCTTCTAATGAA	0.413000													5	5					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321640	56321640	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56321640A>C	ENST00000443188.1	-	5	1046	c.336T>G	c.(334-336)acT>acG	p.T112T	NLRP11_ENST00000592953.1_Silent_p.T13T|NLRP11_ENST00000589824.2_Silent_p.T112T|NLRP11_ENST00000589093.1_Silent_p.T112T|NLRP11_ENST00000360133.3_Silent_p.T112T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	112							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATTTTCCAAAAGTGTGACTTT	0.383000													5	63					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805729	54805729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:54805729C>T	ENST00000306858.7	+	5	2076	c.1960C>T	c.(1960-1962)Caa>Taa	p.Q654*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	654										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTAAAGAATCAACAGACTGA	0.333000													7	44					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295410	51295410	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51295410G>A	ENST00000270593.1	+	5	531	c.531G>A	c.(529-531)gaG>gaA	p.E177E	ACPT_ENST00000270594.3_Intron	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	177						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGTACCAGGAGGCCCTGGAGG	0.701000													14	17					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063826	76063826	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76063826G>A	ENST00000260045.3	-	5	473	c.368C>T	c.(367-369)tCt>tTt	p.S123F	PRKRIR_ENST00000531878.1_5'UTR	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	123					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCCTGCTCAGAAGTTTCATC	0.343000													11	9					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5528910	5528910	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5528910C>T	ENST00000311659.4	-	2	2026	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	627	UBA.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAAAGCCCATGGACCGC	0.537000													31	48					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106675683	106675683	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:106675683A>T	ENST00000369701.3	+	3	1015	c.788A>T	c.(787-789)aAa>aTa	p.K263I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	263						integral to membrane	neuropeptide receptor activity			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)		CCAACCAACAAAAGGAAGGTA	0.468000													33	4					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187120183	187120183	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:187120183A>C	ENST00000378802.4	+	6	1051	c.747A>C	c.(745-747)aaA>aaC	p.K249N		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	249					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TTATGTTTAAAGAAGGATGGG	0.353000													10	53					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930405	184930405	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:184930405C>T	ENST00000308497.4	+	3	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_ENST00000438269.1_Silent_p.I138I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	138					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493000													19	6					0	0	1	0	0
LINC00639	283547	broad.mit.edu	37	14	39304769	39304769	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39304769C>T	ENST00000553932.1	-	0	3793																											AAGAGCACATCTTTGATGCCT	0.532000													4	11					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835749	12835749	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12835749T>C	ENST00000357726.4	+	2	378	c.351T>C	c.(349-351)tcT>tcC	p.S117S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	117								p.S117S(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCATATGGTCTGGAGCTTCTG	0.542000													14	361					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054046	160054046	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160054046G>A	ENST00000368088.3	+	2	468	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	76					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCTTCTTCGGCGCCATCTG	0.662000													17	23					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058545	133058545	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:133058545G>A	ENST00000368642.4	-	4	918	c.833C>T	c.(832-834)cCc>cTc	p.P278L		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	278										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CGTCCGGAGGGGTATTTTGAT	0.692000													14	2					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112779152	112779152	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112779152T>G	ENST00000295408.4	+	17	2600	c.2343T>G	c.(2341-2343)agT>agG	p.S781R	MERTK_ENST00000409780.1_Missense_Mutation_p.S605R|MERTK_ENST00000421804.2_Missense_Mutation_p.S781R			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	781	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAAGTAAAAGTGATGTGGTAT	0.448000													14	56					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52265368	52265368	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:52265368C>T	ENST00000321600.1	+	3	671	c.625C>T	c.(625-627)Cat>Tat	p.H209Y	DYNAP_ENST00000585973.1_Missense_Mutation_p.H157Y	NM_173629.1	NP_775900.1			dynactin associated protein																		ACCTACCGATCATTTATAATT	0.418000													40	3					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53226261	53226261	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53226261C>T	ENST00000394729.2	+	18	2338	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F	PRKCD_ENST00000330452.3_Silent_p.F670F	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	670	AGC-kinase C-terminal.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACCCCAAATTCGAGCACCTCC	0.582000													60	31					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4070064	4070064	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:4070064A>G	ENST00000274673.3	-	7	796	c.393T>C	c.(391-393)gcT>gcC	p.A131A	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	131																	TATCAACTGAAGCAATTGTTA	0.393000													14	43					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13418972	13418972	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:13418972T>G	ENST00000254508.5	-	9	1218	c.1136A>C	c.(1135-1137)aAg>aCg	p.K379T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	379					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TACATAGACCTTGTTGCTGAA	0.552000													10	148					0	0	1	0	0
TMEM251	26175	broad.mit.edu	37	14	93652630	93652630	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93652630T>G	ENST00000415050.2	+	2	499	c.124T>G	c.(124-126)Ttc>Gtc	p.F42V	RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.F4V|TMEM251_ENST00000283534.4_Missense_Mutation_p.F4V|RP11-371E8.4_ENST00000557048.1_Intron	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		AATGATGAACTTCCGTCAGCG	0.408000													35	126					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18138462	18138462	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18138462C>T	ENST00000316843.4	+	10	1216	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	374					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGTGCTGGACCTGCAGACTCC	0.642000													30	34					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587137	15587137	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15587137T>G	ENST00000292609.4	-	2	473	c.344A>C	c.(343-345)gAt>gCt	p.D115A	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D115A			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	115					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCGAGCCATCAGGTGCCAG	0.627000													8	147					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270114	36270114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36270114C>T	ENST00000394571.2	+	6	1252	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	PNPLA1_ENST00000312917.5_Nonsense_Mutation_p.Q332*|PNPLA1_ENST00000388715.3_Nonsense_Mutation_p.Q323*	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	418	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCTACACTCTCAGGCACCCAC	0.602000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	52					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246859	57246859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:57246859C>T	ENST00000607273.1	+	7	673	c.586C>T	c.(586-588)Cga>Tga	p.R196*	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	196					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGATTTGTTTCGAGGAAGGAA	0.393000													9	30					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631579	74631579	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:74631579T>G	ENST00000358632.4	-	7	1456	c.762_splice	c.e7+1	p.K254_splice	CYP11A1_ENST00000268053.6_Splice_Site_p.K412_splice|CYP11A1_ENST00000419019.2_Splice_Site_p.K254_splice	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	412					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGCACCTACCTTGGCAGGAAT	0.592000													11	13					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996904	62996904	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62996904C>T	ENST00000306494.6	-	1	220	c.221G>A	c.(220-222)aGa>aAa	p.R74K	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	74					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GATGGAGATTCTCAGGAGGGC	0.517000													48	51					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75301396	75301396	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:75301396A>G	ENST00000339859.4	-	7	773	c.673T>C	c.(673-675)Tgt>Cgt	p.C225R	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Intron|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.C225R|USP54_ENST00000408019.1_Missense_Mutation_p.C225R			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	225					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCACTGGACAGTTCCGCAGA	0.498000													4	17					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140477853	140477853	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:140477853C>A	ENST00000288602.6	-	12	1515	c.1455G>T	c.(1453-1455)ttG>ttT	p.L485F		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	485	Protein kinase.		L -> F (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(2)|p.L485F(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CTGTCACATTCAACATTTTCA	0.363000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	26					4.3181e-19	4.35497e-19	1	1	0
NPAS2	4862	broad.mit.edu	37	2	101611999	101611999	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:101611999C>T	ENST00000335681.5	+	21	2715	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Silent_p.V875V	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	810					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGAAGGGTCAGCAGTCTGT	0.622000													15	7					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241895	65241895	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65241895T>G	ENST00000389722.3	-	22	4843	c.4790A>C	c.(4789-4791)gAg>gCg	p.E1597A	SPTB_ENST00000542895.1_Missense_Mutation_p.E1597A|SPTB_ENST00000389720.3_Missense_Mutation_p.E1597A|SPTB_ENST00000389721.5_Missense_Mutation_p.E1597A|SPTB_ENST00000556626.1_Missense_Mutation_p.E1597A	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1597					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AATCCAGGCCTCAGCCTCGTC	0.647000													9	141					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889827	24889827	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:24889827C>T	ENST00000396432.2	-	14	3366	c.2880G>A	c.(2878-2880)caG>caA	p.Q960Q	ARHGAP21_ENST00000320481.6_Silent_p.Q747Q|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	959	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.Q959Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAACATACATCTGTTTCCATG	0.423000													34	50					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45213357	45213357	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45213357C>T	ENST00000372217.1	+	3	490	c.139C>T	c.(139-141)Cct>Tct	p.P47S	KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000372224.4_Missense_Mutation_p.P101S|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372218.4_Missense_Mutation_p.P101S			Q99661	KIF2C_HUMAN	kinesin family member 2C	101	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.P101S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTCCAAAATTCCTGCTCCAAA	0.398000													8	17					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949051	89949051	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:89949051G>A	ENST00000405460.2	+	20	3756	c.3660G>A	c.(3658-3660)caG>caA	p.Q1220Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1220					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)		CTGGGGGCCAGCTAGCAGAAA	0.403000													3	7					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76105705	76105705	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:76105705C>T	ENST00000238667.4	+	6	1491	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	FLVCR2_ENST00000539311.1_Silent_p.L174L|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.L94L|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	379					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGAGACAACCCTGGTAGTCTA	0.428000													20	34					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931961	155931961	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155931961A>G	ENST00000368316.1	-	14	1540	c.1070T>C	c.(1069-1071)cTg>cCg	p.L357P	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.L385P|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.L384P|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.L357P|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.L386P			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	385	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTCACCAGCAGGATGCACTC	0.637000													5	101					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140059397	140059397	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140059397G>A	ENST00000504366.1	-	3	1984	c.165C>T	c.(163-165)ctC>ctT	p.L55L	HARS_ENST00000438307.2_Silent_p.L84L|HARS_ENST00000504156.1_Silent_p.L124L|HARS_ENST00000307633.3_Silent_p.L84L|HARS_ENST00000457527.2_Silent_p.L124L|HARS_ENST00000415192.2_Intron|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000431330.2_Intron			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	124	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAAGGGACAGGAGCTCCCCGC	0.463000													14	21					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414495	73414495	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:73414495C>G	ENST00000286657.4	-	3	240	c.204G>C	c.(202-204)agG>agC	p.R68S	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	68					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTCGCTGACCTCTTTTTGT	0.448000													14	43					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11227637	11227637	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11227637A>C	ENST00000558518.1	+	12	1995	c.1808A>C	c.(1807-1809)aAg>aCg	p.K603T	LDLR_ENST00000535915.1_Missense_Mutation_p.K562T|LDLR_ENST00000558013.1_Missense_Mutation_p.K603T|LDLR_ENST00000557933.1_Missense_Mutation_p.K603T|LDLR_ENST00000455727.2_Missense_Mutation_p.K435T|LDLR_ENST00000545707.1_Missense_Mutation_p.K476T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	603					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GAGGATGAAAAGAGGCTGGCC	0.542000													50	155					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167745585	167745585	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167745585T>G	ENST00000470487.1	-	12	2243	c.1554A>C	c.(1552-1554)ggA>ggC	p.G518G	GOLIM4_ENST00000309027.4_Silent_p.G490G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	518	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCTGGATCTCCTTCTGCTT	0.458000													8	286					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48865302	48865302	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:48865302G>A	ENST00000371847.3	-	7	665	c.501C>T	c.(499-501)taC>taT	p.Y167Y	SPATA6_ENST00000371843.3_Silent_p.Y167Y|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.Y95Y	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	167					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCCAAATGGTAAATAAATT	0.294000													23	25					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47985689	47985689	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:47985689C>T	ENST00000318711.7	+	36	4414	c.4231C>T	c.(4231-4233)Cat>Tat	p.H1411Y	DIP2A_ENST00000417564.2_Missense_Mutation_p.H1410Y|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.H1406Y	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1410					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGAGGCGCTTCATGCCGACCA	0.582000													62	2					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063095	44063095	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:44063095C>T	ENST00000262726.7	-	17	2125	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	EFCAB6_ENST00000396231.2_Silent_p.V472V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTTTTCAATCACTTCTTCTG	0.423000													36	46					0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12266961	12266961	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12266961T>G	ENST00000376259.3	+	10	1359	c.1270T>G	c.(1270-1272)Tcc>Gcc	p.S424A	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	424					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGTCCCCTTCTCCAAGGAGGA	0.622000													11	100					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325281	47325281	+	RNA	SNP	C	C	T	rs10712628		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47325281C>T	ENST00000505841.1	-	0	1204					NR_002788.2																						CATTTCAATCCAAACATAGCT	0.398000													19	15					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627088	108627088	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:108627088G>A	ENST00000264047.2	+	9	1790	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G400E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G505E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	505					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGAAAGTGGAACCTTGCCA	0.313000													15	13					0	0	1	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193129	193129	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:193129G>A	ENST00000342878.2	+	1	50	c.30G>A	c.(28-30)gtG>gtA	p.V10V	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	10						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCTGCTGGTGGCCCTCACCC	0.607000													11	58					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723569	50723569	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50723569G>A	ENST00000515869.1	-	6	3116	c.2996C>T	c.(2995-2997)cCa>cTa	p.P999L	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P999L|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.P531L|PGBD3_ENST00000603152.1_Missense_Mutation_p.P999L|PGBD3_ENST00000508005.2_Missense_Mutation_p.P531L	NM_001277059.1	NP_001263988.1																					GCCAGGTTCTGGAGGATGACC	0.448000													29	0					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21882168	21882168	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:21882168C>T	ENST00000328843.6	+	67	10750	c.10719C>T	c.(10717-10719)atC>atT	p.I3573I	DNAH11_ENST00000409508.3_Silent_p.I3566I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3573	AAA 5 (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						TTAGGTATATCAGGATTGGAG	0.388000									Kartagener syndrome				19	27					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454998	66454998	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66454998G>A	ENST00000533211.1	-	35	6953	c.6622C>T	c.(6622-6624)Ctg>Ttg	p.L2208L	SPTBN2_ENST00000529997.1_Silent_p.L2208L|SPTBN2_ENST00000309996.2_Silent_p.L2208L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2208					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGAGGCGGCAGGGTGGCAGCA	0.677000													47	51					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130550563	130550563	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130550563T>C	ENST00000373265.2	+	5	854	c.854T>C	c.(853-855)tTt>tCt	p.F285S	CDK9_ENST00000373264.4_Missense_Mutation_p.F168S|CDK9_ENST00000480353.1_3'UTR			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	168	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CTGGCAGACTTTGGGCTGGCC	0.597000													3	24					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748909	10748909	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10748909T>C	ENST00000586078.1	+	20	1956	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	SLC44A2_ENST00000407327.4_Missense_Mutation_p.L614P|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000335757.5_Missense_Mutation_p.L616P	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	616					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCAGGGATCCTGGCTTTCTTC	0.483000													9	93					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35569473	35569473	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:35569473C>T	ENST00000262878.4	-	3	516	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	106	SAM.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGAACCAATCGCTGGATATA	0.323000													26	26					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113321967	113321967	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113321967C>T	ENST00000263331.5	+	10	2217	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	POLR1B_ENST00000417433.2_Missense_Mutation_p.P490L|POLR1B_ENST00000541869.1_Missense_Mutation_p.P584L|POLR1B_ENST00000537335.1_Missense_Mutation_p.P335L|POLR1B_ENST00000409894.3_Missense_Mutation_p.P395S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	546					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GATGGAGCTCCCCACCGATCA	0.517000													15	44					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123257740	123257740	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123257740G>A	ENST00000451558.1	+	9	921	c.400G>A	c.(400-402)Gga>Aga	p.G134R	ASB15_ENST00000434204.1_Missense_Mutation_p.G134R|ASB15_ENST00000540573.1_Missense_Mutation_p.G134R|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.G134R|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.G134R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	134					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATTAGAAAAGGGAGTGTGGCC	0.383000													25	29					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016905	23016905	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23016905T>C	ENST00000255008.3	+	1	849	c.785T>C	c.(784-786)cTg>cCg	p.L262P	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	262					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGGCTGGTGCTGATGGTCGTG	0.617000													6	109					0	0	1	0	0
MIR519D	574480	broad.mit.edu	37	19	54216624	54216624	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54216624G>A	ENST00000385246.1	+	0	24					NR_030202.1																						CCCTCCAAAGGGAAGCGCTTT	0.428000													19	148					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37350281	37350281	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37350281T>C	ENST00000231498.3	-	7	1013	c.810A>G	c.(808-810)caA>caG	p.Q270Q	NUP155_ENST00000513532.1_Silent_p.Q270Q|NUP155_ENST00000381843.2_Silent_p.Q211Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	270					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAACGTGAATTGTAGCAAGG	0.358000													53	35					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101857743	101857743	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:101857743C>T	ENST00000263468.8	+	9	3485	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S873F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1072							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCCTAGAGTCCCTTAATGAT	0.303000													22	3					0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78081963	78081963	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:78081963T>C	ENST00000316355.5	+	4	722	c.366T>C	c.(364-366)acT>acC	p.T122T	CCNG2_ENST00000354403.5_Silent_p.T122T|CCNG2_ENST00000395640.1_Silent_p.T122T|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Silent_p.T122T|CCNG2_ENST00000509972.1_Silent_p.T122T	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	122					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCATCCACTCATGATGTGA	0.358000													7	73					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72502746	72502746	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:72502746G>A	ENST00000319622.6	-	4	776	c.320C>T	c.(319-321)cCc>cTc	p.P107L	PKM_ENST00000568883.1_Intron|PKM_ENST00000335181.5_Missense_Mutation_p.P107L|PKM_ENST00000565154.1_Missense_Mutation_p.P107L|PKM_ENST00000565184.1_Missense_Mutation_p.P107L|PKM_ENST00000389093.3_Missense_Mutation_p.P107L|PKM_ENST00000568459.1_Missense_Mutation_p.P107L|PKM_ENST00000449901.2_Missense_Mutation_p.P92L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CACAGCAACGGGCCGGTAGAG	0.552000													60	5					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472886	77472886	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:77472886A>C	ENST00000560626.2	-	4	1858	c.1383T>G	c.(1381-1383)ccT>ccG	p.P461P	PEAK1_ENST00000558305.1_Silent_p.P461P|PEAK1_ENST00000312493.4_Silent_p.P461P			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	461					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CAACTCGGTAAGGTTTTGCTT	0.493000													9	59					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	806546	806546	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:806546T>G	ENST00000356948.6	+	10	1532	c.1109T>G	c.(1108-1110)cTc>cGc	p.L370R	PTBP1_ENST00000349038.4_Missense_Mutation_p.L344R|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.L363R	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	344	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGCAACCTCAACCCAGAG	0.701000													5	37					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841908	230841908	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:230841908C>T	ENST00000366667.4	-	3	1109	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	299					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACCCAGAACTCCTGGGGCTCG	0.587000													22	22					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306757	46306757	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:46306757A>G	ENST00000397850.2	-	16	2593	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	ITGB2_ENST00000397852.1_Missense_Mutation_p.L714P|ITGB2_ENST00000302347.5_Missense_Mutation_p.L714P|ITGB2_ENST00000397854.3_Missense_Mutation_p.L657P|ITGB2_ENST00000355153.4_Missense_Mutation_p.L714P|ITGB2_ENST00000397857.1_Missense_Mutation_p.L714P			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	714					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AATGCCGATCAGCACGATGCC	0.622000													6	50					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964578	123964578	+	Silent	SNP	G	G	A	rs140865098		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:123964578G>A	ENST00000314393.4	+	3	1663	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	276	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAATGCCACGATGATCAACT	0.498000													34	109					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085291	167085291	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167085291G>A	ENST00000303354.6	-	22	4459	c.4119C>T	c.(4117-4119)gcC>gcT	p.A1373A	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.A1361A|SCN9A_ENST00000375387.4_Silent_p.A1373A|SCN9A_ENST00000409435.1_Silent_p.A1372A			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1372						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CATTCATAAGGGCAAAACATT	0.403000													45	124					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30741121	30741121	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:30741121T>G	ENST00000215793.7	-	4	606	c.452A>C	c.(451-453)gAg>gCg	p.E151A	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	151					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AGCAATGAACTCAAACTCAGG	0.542000													6	86					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113649	56113649	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56113649G>A	ENST00000279783.2	+	1	229	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGGTCACAGTGATAGGCAATC	0.453000										HNSCC(65;0.19)			45	48					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120629735	120629735	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:120629735G>A	ENST00000310396.5	+	2	527	c.60G>A	c.(58-60)gtG>gtA	p.V20V	CPED1_ENST00000340646.5_Silent_p.V20V|CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Silent_p.V20V	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CCTTCTTGGTGGGCTTAGTGG	0.607000													39	42					0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780329	65780329	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65780329G>A	ENST00000312134.2	+	2	477	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	91					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						TCCTGACGATGGAGATGGGGA	0.607000													32	34					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15170402	15170402	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:15170402A>C	ENST00000564131.1	-	10	890	c.871T>G	c.(871-873)Tta>Gta	p.L291V	RRN3_ENST00000563559.1_Intron|RRN3_ENST00000540462.1_Intron|RRN3_ENST00000327307.7_Intron|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000198767.6_Intron|RRN3_ENST00000429751.2_Intron			Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	0					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ACTTTCATTAATAAACTGCTA	0.388000													10	25					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174747	3174747	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:3174747C>T	ENST00000355072.5	+	31	4200	c.4055C>T	c.(4054-4056)cCa>cTa	p.P1352L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1352					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTGTGAGGCCAGGCTTGTAC	0.597000													49	6					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129419329	129419329	+	Silent	SNP	C	C	T	rs145149634		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:129419329C>T	ENST00000421865.2	+	4	457	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	136	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTTCCAGATCGCGTATGTGA	0.403000													42	0					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65851393	65851393	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:65851393A>C	ENST00000395325.3	+	7	786		c.e7-1		DNAJC6_ENST00000498720.1_Splice_Site|DNAJC6_ENST00000371069.4_Splice_Site|DNAJC6_ENST00000263441.7_Splice_Site	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6						cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTTCTGTTTCAGATACCTGGG	0.443000													6	45					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122849383	122849383	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:122849383C>T	ENST00000316218.7	+	11	925	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	277	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GAGGGCGGCTCCGTTTATCAC	0.587000													20	84					0	0	1	0	0
NUDT8	254552	broad.mit.edu	37	11	67395656	67395656	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:67395656A>C	ENST00000376693.2	-	4	481	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	158	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CCCCGGCAGAAGTGGGTATAG	0.607000													16	42					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103954	168103954	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:168103954C>T	ENST00000409195.1	+	9	6141	c.6052C>T	c.(6052-6054)Ctt>Ttt	p.L2018F	XIRP2_ENST00000409273.1_Missense_Mutation_p.L1796F|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2018F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1843					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						TGAGGTTAATCTTCCAAAAGC	0.438000													12	28					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272774	28272774	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28272774C>T	ENST00000305242.5	-	6	909	c.817G>A	c.(817-819)Ggt>Agt	p.G273S	ARMC4_ENST00000239715.3_Missense_Mutation_p.G130S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	273							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTACTTACACCATTTAAAAAT	0.403000													18	27					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186971000	186971000	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:186971000T>G	ENST00000337774.5	-	6	1237	c.848A>C	c.(847-849)aAc>aCc	p.N283T	MASP1_ENST00000392470.2_Missense_Mutation_p.N257T|MASP1_ENST00000392472.2_Missense_Mutation_p.N170T|MASP1_ENST00000169293.6_Missense_Mutation_p.N283T|MASP1_ENST00000296280.6_Missense_Mutation_p.N283T|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	283	CUB 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTCTCCCGAGTTGTCACTATG	0.567000													17	443					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004469	70004469	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:70004469G>A	ENST00000361484.3	-	1	473	c.150C>T	c.(148-150)tcC>tcT	p.S50S		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	50						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTCCCTGAAGGAGCACACGT	0.592000													10	64					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483902	128483902	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:128483902C>T	ENST00000325888.8	+	19	3125	c.2864C>T	c.(2863-2865)cCc>cTc	p.P955L	FLNC_ENST00000346177.6_Missense_Mutation_p.P955L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	955					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P955H(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCAAGAGCCCCTTTGTGGTG	0.552000													28	44					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207569647	207569647	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:207569647C>T	ENST00000452335.2	-	5	519	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	135						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGCTATTTTCTGCATAGAGT	0.383000													4	13					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148875975	148875975	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148875975A>T	ENST00000420008.2	+	6	1286	c.498A>T	c.(496-498)ccA>ccT	p.P166P	ZNF398_ENST00000335901.4_Silent_p.P166P|ZNF398_ENST00000491174.1_Silent_p.P166P|ZNF398_ENST00000483892.1_Silent_p.P166P|ZNF398_ENST00000426851.2_Silent_p.P166P|ZNF398_ENST00000475153.1_Silent_p.P337P|ZNF398_ENST00000540950.1_Silent_p.P342P	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	337	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TCCCACCTCCAGTTGGCGAGC	0.542000													20	213					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132071	59132071	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59132071T>G	ENST00000313940.2	+	1	187	c.140T>G	c.(139-141)aTt>aGt	p.I47S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCTCCCTCATTGTTTTAATA	0.443000													60	151					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784630	143784630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:143784630C>T	ENST00000519387.1	+	3	721	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000292430.6_Silent_p.L113L|LY6K_ENST00000561179.1_Silent_p.L171L|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	0	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTTTTACCTCAAGTGTTGTA	0.522000													20	59					0	0	1	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442015	20442015	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:20442015C>T	ENST00000375105.3	-	3	335	c.277G>A	c.(277-279)Ggg>Agg	p.G93R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	93					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATGTTCCCCTGGGAAAAG	0.567000										Multiple Myeloma(11;0.12)			40	67					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161179354	161179354	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161179354C>T	ENST00000392179.4	+	5	835	c.596C>T	c.(595-597)cCt>cTt	p.P199L	NDUFS2_ENST00000367993.3_Missense_Mutation_p.P199L|NDUFS2_ENST00000476409.2_Missense_Mutation_p.P101L	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	199					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GCCATGACCCCTTTCTTCTGG	0.483000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	29					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478863	142478863	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142478863C>T	ENST00000603901.1	+	0	24					NR_001296.3																						TGATCCTTGCCTTTGTGGGAG	0.572000													23	1					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4442857	4442857	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:4442857A>G	ENST00000254718.4	-	26	4146	c.3840T>C	c.(3838-3840)gcT>gcC	p.A1280A	MYBBP1A_ENST00000381556.2_Silent_p.A1280A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1280	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TTTTGGGAAGAGCCTTCTGAT	0.562000													48	263					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795049	109795049	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:109795049T>C	ENST00000271332.3	+	1	2409	c.2348T>C	c.(2347-2349)cTg>cCg	p.L783P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	783	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTTACACCCTGGCCATTACT	0.567000													4	49					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108309157	108309157	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:108309157G>A	ENST00000370056.4	-	8	1007	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.H180Y|VAV3_ENST00000527011.1_Missense_Mutation_p.H245Y	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	245	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AGGTTCCGATGAAGTTTTACA	0.323000													8	11					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92084075	92084075	+	Nonsense_Mutation	SNP	G	G	A	rs146758171		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:92084075G>A	ENST00000256343.3	-	20	2422	c.2266C>T	c.(2266-2268)Cga>Tga	p.R756*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	756					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCAAGCATTCGAAAACCTATG	0.318000													12	30					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298746	158298746	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158298746A>C	ENST00000368168.3	-	5	1052	c.945T>G	c.(943-945)ctT>ctG	p.L315L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	315					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGCATAGCAAAAGGAGCAAGG	0.423000													4	68					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196921433	196921433	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196921433G>A	ENST00000346964.2	-	5	535	c.346C>T	c.(346-348)Cct>Tct	p.P116S	DLG1_ENST00000450955.1_Missense_Mutation_p.P116S|DLG1_ENST00000419354.1_Missense_Mutation_p.P116S|DLG1_ENST00000422288.1_Missense_Mutation_p.P116S|DLG1_ENST00000448528.2_Missense_Mutation_p.P116S|DLG1_ENST00000392382.2_Missense_Mutation_p.P116S|DLG1_ENST00000357674.4_Missense_Mutation_p.P116S|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Missense_Mutation_p.P116S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	116					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTTGAGGAGGTGTATCTTCA	0.358000													10	56					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55021677	55021677	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:55021677T>G	ENST00000324000.3	+	2	2258	c.224T>G	c.(223-225)aTt>aGt	p.I75S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	75					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTCGTGCCCATTACGAATTCT	0.493000													4	90					0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10416140	10416140	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10416140G>A	ENST00000403903.3	-	3	1822	c.624C>T	c.(622-624)tcC>tcT	p.S208S	CTD-2369P2.10_ENST00000452032.2_3'UTR|FDX1L_ENST00000541276.1_3'UTR|ZGLP1_ENST00000403352.1_Silent_p.S124S	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	208					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGGTCCGACAGGAAGCACAGC	0.622000													4	3					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858180	54858180	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:54858180C>T	ENST00000333896.5	+	15	3342	c.2957C>T	c.(2956-2958)aCc>aTc	p.T986I	SPTBN1_ENST00000356805.4_Missense_Mutation_p.T999I	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	999					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGCAAGCTGACCGGCATGGAG	0.622000													23	40					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671844	176671844	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176671844C>T	ENST00000367662.3	+	9	4502	c.3338C>T	c.(3337-3339)cCt>cTt	p.P1113L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1113					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGGAGCTCCTTATTGTGGA	0.502000													30	36					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336956	126336956	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126336956C>T	ENST00000394329.3	+	5	6851	c.6838C>T	c.(6838-6840)Ctt>Ttt	p.L2280F	FAT4_ENST00000335110.5_Missense_Mutation_p.L578F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2280	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAACAATTCTTCAGGTCAG	0.358000													10	19					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90020775	90020775	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:90020775A>G	ENST00000563594.1	+	3	1112	c.115A>G	c.(115-117)Act>Gct	p.T39A	DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563795.1_Missense_Mutation_p.T39A|DEF8_ENST00000570182.1_Missense_Mutation_p.T39A|DEF8_ENST00000569453.1_Missense_Mutation_p.T39A|DEF8_ENST00000418391.2_Missense_Mutation_p.T39A|DEF8_ENST00000268676.7_Missense_Mutation_p.T100A	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	100					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCCGGACGTCACTCCTGAAGG	0.657000													14	25					0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73995191	73995191	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:73995191C>T	ENST00000318443.5	+	4	799	c.497C>T	c.(496-498)tCc>tTc	p.S166F	CD276_ENST00000318424.5_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.S20F|CD276_ENST00000561213.1_Missense_Mutation_p.S166F|CD276_ENST00000564751.1_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	166	Ig-like C2-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ATCACGTGCTCCAGCTACCAG	0.647000													33	3					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50131544	50131544	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50131544C>T	ENST00000376025.2	-	0	2058							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGATCATCTCTGTGGGGTAC	0.517000													18	1					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43924322	43924322	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:43924322A>G	ENST00000282406.4	+	7	625	c.515A>G	c.(514-516)aAg>aGg	p.K172R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	172						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTCAAGGAAAGAAGTCATCC	0.373000													23	76					0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119631261	119631261	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119631261T>G	ENST00000388822.4	+	11	1342	c.1175T>G	c.(1174-1176)aTt>aGt	p.I392S	METTL14_ENST00000506780.1_Missense_Mutation_p.I354S			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	392						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACAGAAGAAATTGAGAGACTT	0.468000													21	65					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219605244	219605244	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219605244G>A	ENST00000392102.1	+	5	1938	c.1597_splice	c.e5-1	p.G533_splice	TTLL4_ENST00000457313.1_Splice_Site_p.G368_splice|TTLL4_ENST00000442769.1_Splice_Site_p.G533_splice|TTLL4_ENST00000258398.4_Splice_Site_p.G533_splice	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	533					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTTCCTCTAGGAGACTCAGAG	0.478000													38	34					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25606733	25606733	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:25606733T>G	ENST00000406818.3	-	19	2100	c.1851A>C	c.(1849-1851)gaA>gaC	p.E617D	DTNB_ENST00000545439.1_Missense_Mutation_p.E406D|DTNB_ENST00000496972.2_Intron|DTNB_ENST00000407186.1_Missense_Mutation_p.E580D|DTNB_ENST00000407661.3_Intron|DTNB_ENST00000407038.3_Missense_Mutation_p.E557D|DTNB_ENST00000404103.3_Missense_Mutation_p.E587D|DTNB_ENST00000288642.8_Missense_Mutation_p.E587D|DTNB_ENST00000405222.1_Missense_Mutation_p.E550D	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	617						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTTCTCTTCTTCTTCCT	0.532000													6	152					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084839	3084839	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:3084839G>A	ENST00000397461.1	+	21	3074	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	CNTN4_ENST00000427331.1_Missense_Mutation_p.R897Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.R678Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.R897Q|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.R569Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.R569Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	897					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGACAACCCGAAAGCCACGT	0.438000													15	20					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39550908	39550908	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39550908A>T	ENST00000379631.4	-	2	423	c.79T>A	c.(79-81)Tgt>Agt	p.C27S	STOML3_ENST00000423210.1_Missense_Mutation_p.C18S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	27						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATCCAGCCACATACACCAAGC	0.443000													13	9					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87060724	87060724	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87060724C>T	ENST00000276616.2	-	3	1199	c.1125G>A	c.(1123-1125)agG>agA	p.R375R		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	375							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATTCTACTATCCTTAAGTTTC	0.438000													46	59					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071745	9071745	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9071745G>A	ENST00000397910.4	-	3	15904	c.15701C>T	c.(15700-15702)tCc>tTc	p.S5234F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5236	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						GTCTGGGGTGGAAATTTTGCT	0.478000													52	71					0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133712402	133712402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:133712402G>A	ENST00000299140.3	-	5	469	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPATA19_ENST00000532889.1_Nonsense_Mutation_p.R139*	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	139					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.R139*(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TGCTCTATTCGATCTCGCATG	0.517000													40	2					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038614	14038614	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:14038614G>A	ENST00000380523.4	-	4	373	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.P19S	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	19					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GCATATACCGGATGAGAATAC	0.443000													59	2					0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54961500	54961500	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:54961500A>C	ENST00000395909.4	-	5	697	c.132T>G	c.(130-132)gcT>gcG	p.A44A	AURKA_ENST00000395907.1_Silent_p.A44A|AURKA_ENST00000371356.2_Silent_p.A44A|AURKA_ENST00000395911.1_Silent_p.A44A|AURKA_ENST00000312783.6_Silent_p.A44A|AURKA_ENST00000347343.2_Silent_p.A44A|AURKA_ENST00000395913.3_Silent_p.A44A|AURKA_ENST00000395914.1_Silent_p.A44A|AURKA_ENST00000395915.3_Silent_p.A44A	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			AGACCCGCTGAGCCTGGCCAC	0.483000													5	101					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475338	74475338	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74475338T>C	ENST00000591885.1	-	5	844	c.294A>G	c.(292-294)ggA>ggG	p.G98G	RHBDF2_ENST00000389760.4_Silent_p.G98G|RHBDF2_ENST00000313080.4_Silent_p.G127G|RHBDF2_ENST00000592378.1_5'UTR			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	127					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CGCCGCTGACTCCAAACCACT	0.672000													4	14					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152352862	152352862	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152352862C>T	ENST00000397345.3	-	173	24616	c.24414G>A	c.(24412-24414)atG>atA	p.M8138I	NEB_ENST00000397336.2_Missense_Mutation_p.M113I|NEB_ENST00000603639.1_Missense_Mutation_p.M8138I|NEB_ENST00000172853.10_Missense_Mutation_p.M6282I|RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Missense_Mutation_p.M82I|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.M8138I|NEB_ENST00000427231.2_Missense_Mutation_p.M8138I|NEB_ENST00000409198.1_Missense_Mutation_p.M6282I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6442					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCCTTGCCCATGTTTTCTT	0.403000													9	3					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132481	15132481	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15132481G>A	ENST00000292574.3	+	5	1177	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	365					microtubule cytoskeleton organization	microtubule		p.T365T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592000													33	39					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462918	62462918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:62462918C>T	ENST00000430451.2	+	1	378	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.Q61*	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	61										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGATAATATTCAGATTCAGGA	0.373000													53	57					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808020	77808020	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:77808020T>C	ENST00000269397.4	-	5	1598	c.1421A>G	c.(1420-1422)gAc>gGc	p.D474G		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	474	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCAGCGCAAGTCTATGGGTTC	0.736000													8	24					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176305606	176305606	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:176305606G>A	ENST00000329542.4	+	13	2424	c.2150G>A	c.(2149-2151)gGg>gAg	p.G717E	UNC5A_ENST00000261961.3_Missense_Mutation_p.G677E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	717					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGCGACGGGCAGAGCTTC	0.642000													24	22					0	0	1	0	0
CLECL1	160365	broad.mit.edu	37	12	9885741	9885741	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:9885741C>T	ENST00000327839.3	-	1	154	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	40						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TCCTTCTGCTCCCCAAGTGGG	0.393000													34	35					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994421	53994421	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53994421C>T	ENST00000396403.4	+	4	1063	c.935C>T	c.(934-936)tCa>tTa	p.S312L	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGTTTCAAATCAAACCTTAAA	0.388000													12	97					0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035349	30035349	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:30035349C>T	ENST00000300575.2	+	3	340	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	107						integral to membrane				breast(3)|lung(3)	6						CCATCACATCCTGGTGGGCTT	0.587000													32	78					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163029330	163029330	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163029330G>A	ENST00000188790.4	-	25	2379	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	FAP_ENST00000443424.1_Silent_p.F699F|AC007750.5_ENST00000418968.2_RNA	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	724					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCATTGCCTGGAAATCCACTT	0.358000													21	10					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206630267	206630267	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206630267A>T	ENST00000360409.3	+	14	3168	c.2377A>T	c.(2377-2379)Act>Tct	p.T793S	NRP2_ENST00000412873.2_Missense_Mutation_p.T793S|NRP2_ENST00000357785.5_Missense_Mutation_p.T793S|NRP2_ENST00000540178.1_Missense_Mutation_p.T793S|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000357118.4_Missense_Mutation_p.T793S|NRP2_ENST00000272849.3_Missense_Mutation_p.T793S|NRP2_ENST00000540841.1_Missense_Mutation_p.T793S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	793	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCGGATAAGCACTGATGTCCC	0.473000													44	75					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36657659	36657659	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:36657659G>A	ENST00000319136.4	+	6	520	c.253G>A	c.(253-255)Gag>Aag	p.E85K	APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000440669.2_Silent_p.L131L|APOL1_ENST00000397279.4_Missense_Mutation_p.E69K|APOL1_ENST00000426053.1_Missense_Mutation_p.E51K|APOL1_ENST00000422706.1_Missense_Mutation_p.E69K|APOL1_ENST00000397278.3_Missense_Mutation_p.E69K	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	69					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TATCTTTATTGAGGATGCCAT	0.433000													24	25					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85725926	85725926	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85725926A>C	ENST00000526033.1	-	5	849	c.533T>G	c.(532-534)cTt>cGt	p.L178R	PICALM_ENST00000393346.3_Missense_Mutation_p.L178R|PICALM_ENST00000356360.5_Missense_Mutation_p.L178R|PICALM_ENST00000532317.1_Missense_Mutation_p.L178R|PICALM_ENST00000528398.1_Missense_Mutation_p.L127R	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	178					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAAATCAAGAAGTGCATCCAT	0.303000			T	"""MLLT10, MLL"""	"""TALL, AML, """								5	5					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790432	133790432	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:133790432G>A	ENST00000321016.8	-	18	3418	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1063L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1063	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CACATCACAGGGTGGCAGCTG	0.706000													48	2					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21104619	21104619	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:21104619C>T	ENST00000377122.4	-	22	2572	c.2176G>A	c.(2176-2178)Gct>Act	p.A726T	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	726				RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAGTGGTAGCTCTTCCCAGC	0.318000													30	32					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77249570	77249570	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77249570G>A	ENST00000376896.2	+	3	729	c.117G>A	c.(115-117)caG>caA	p.Q39Q	RORB_ENST00000396204.2_Silent_p.Q50Q	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	50					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGAGCCAGCAGAACAATGCTT	0.438000													7	11					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749709	91749709	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:91749709A>C	ENST00000389857.6	-	26	4680	c.4594T>G	c.(4594-4596)Tcc>Gcc	p.S1532A	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S56A	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1532					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGGGGGTGGAGTTGGAAGGG	0.652000													12	37					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88055840	88055840	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88055840A>C	ENST00000307808.6	+	19	3925	c.3505A>C	c.(3505-3507)Aat>Cat	p.N1169H	AFF1_ENST00000544085.1_Missense_Mutation_p.N808H|AFF1_ENST00000395146.4_Missense_Mutation_p.N1177H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1169						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACGAGGAAGAATAAAGGTAA	0.418000													19	50					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014930	127014930	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127014930T>G	ENST00000393313.1	-	5	1051	c.460A>C	c.(460-462)Att>Ctt	p.I154L	ZNF800_ENST00000265827.3_Missense_Mutation_p.I154L|ZNF800_ENST00000393312.1_Missense_Mutation_p.I154L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTGACTTCAATAGGATTATCA	0.363000													4	54					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934968	10934968	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10934968G>A	ENST00000298232.7	-	14	1138	c.771C>T	c.(769-771)caC>caT	p.H257H	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.H275H|TPTE_ENST00000342420.5_Silent_p.H237H	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	275	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTGGTTTCGGTGTTTCTTAT	0.358000													7	57					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762932	13762932	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13762932C>T	ENST00000265104.4	-	60	10284	c.10180G>A	c.(10180-10182)Gaa>Aaa	p.E3394K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3394	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGCAGTTTCGATGTTATAG	0.373000									Kartagener syndrome				48	34					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40362043	40362043	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:40362043A>G	ENST00000344138.4	+	5	603	c.340A>G	c.(340-342)Aat>Gat	p.N114D	GRAP2_ENST00000407075.3_Missense_Mutation_p.N114D|GRAP2_ENST00000543252.1_Missense_Mutation_p.N74D|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000544756.1_Missense_Mutation_p.N42D|GRAP2_ENST00000540310.1_Missense_Mutation_p.N48D	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	114	SH2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAACAAGGGTAATTACTTTCT	0.423000													51	52					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	101993115	101993115	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:101993115T>C	ENST00000354105.4	-	14	1572	c.1486A>G	c.(1486-1488)Agt>Ggt	p.S496G	CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.S211G	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	496							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		ATGGCTTCACTGGCCAGGACC	0.498000													17	22					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155454	151155454	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:151155454C>T	ENST00000282466.3	-	6	6894	c.6895G>A	c.(6895-6897)Gaa>Aaa	p.E2299K	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2299	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCTAATTTCCAAGGTTCCA	0.448000													86	6					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785182	8785182	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8785182C>T	ENST00000447110.1	-	16	2346	c.2222G>A	c.(2221-2223)cGa>cAa	p.R741Q	PIK3R5_ENST00000584803.1_Missense_Mutation_p.R740Q|PIK3R5_ENST00000581552.1_Missense_Mutation_p.R741Q	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	741	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCAGCGACTTCGTCCACTGAT	0.612000													31	1					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197598286	197598286	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:197598286G>A	ENST00000438796.2	+	19	2127	c.2083G>A	c.(2083-2085)Gtg>Atg	p.V695M	LRCH3_ENST00000441090.2_Missense_Mutation_p.V541M|LRCH3_ENST00000334859.4_Missense_Mutation_p.V695M|LRCH3_ENST00000425562.2_Missense_Mutation_p.V695M|LRCH3_ENST00000536618.1_Missense_Mutation_p.V290M|LRCH3_ENST00000414675.2_Missense_Mutation_p.V643M			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	695	CH.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GGCCAATCATGTGCGACCTCG	0.443000													43	311					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190250801	190250801	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:190250801C>T	ENST00000367462.3	-	3	547	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		106						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CGGAAGAATTCAGGGGCAAGA	0.423000													29	25					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781540	128781540	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:128781540A>G	ENST00000529694.1	+	2	748	c.372A>G	c.(370-372)caA>caG	p.Q124Q	KCNJ5_ENST00000533599.1_Silent_p.Q124Q|KCNJ5_ENST00000338350.4_Silent_p.Q124Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	124					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTGGCGACCAAGAGTGGATTC	0.502000													17	38					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22078881	22078881	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:22078881A>T	ENST00000261200.4	-	3	400	c.401T>A	c.(400-402)cTt>cAt	p.L134H	ABCC9_ENST00000261201.4_Missense_Mutation_p.L134H|ABCC9_ENST00000345162.2_Missense_Mutation_p.L134H|ABCC9_ENST00000326684.4_Missense_Mutation_p.L134H|ABCC9_ENST00000538350.1_Missense_Mutation_p.L134H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	134					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTACCTAAAAGTAATTTAGG	0.353000													33	27					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357418	112357418	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:112357418G>A	ENST00000206423.3	-	2	2288	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	CCDC80_ENST00000439685.2_Silent_p.A445A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	445										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						TGGTGGGAGGGGCATTTGTGA	0.612000													28	1					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460056	201460056	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201460056G>A	ENST00000374700.2	+	3	406	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	55	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTACAGTGATGATATCACGAT	0.398000													3	16					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150917400	150917400	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150917400A>T	ENST00000271640.5	+	9	1146	c.956A>T	c.(955-957)aAg>aTg	p.K319M	SETDB1_ENST00000368962.2_Missense_Mutation_p.K319M|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.K319M	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	319	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACAGTGAAAAAGACTTGGGAG	0.478000													11	32					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153595	101153595	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101153595T>C	ENST00000428847.2	-	2	1203	c.887A>G	c.(886-888)gAg>gGg	p.E296G		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	296					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AAATATGTCCTCATCTGTTCC	0.403000													8	27					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27448014	27448014	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27448014C>T	ENST00000264705.4	+	11	1685	c.1523C>T	c.(1522-1524)aCc>aTc	p.T508I	CAD_ENST00000403525.1_Missense_Mutation_p.T508I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	508	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGTGGAGACCATTGAGCTG	0.607000													8	27					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023686	18023686	+	Silent	SNP	C	C	T	rs140652043		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18023686C>T	ENST00000361221.3	+	29	3810	c.3651C>T	c.(3649-3651)ccC>ccT	p.P1217P	ARHGEF10L_ENST00000375415.1_Silent_p.P1178P|ARHGEF10L_ENST00000452522.1_Silent_p.P1178P|ARHGEF10L_ENST00000375408.3_Silent_p.P990P|ARHGEF10L_ENST00000167825.4_Silent_p.P920P|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1217					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCGACGACCCCGACATCTGGG	0.687000													19	31					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46095306	46095306	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:46095306T>C	ENST00000355105.3	-	12	2574	c.1214A>G	c.(1213-1215)gAg>gGg	p.E405G	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E405G|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AAGGCAATTCTCATCATTTTC	0.438000													18	115					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202128	22202128	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22202128T>C	ENST00000374695.3	-	25	3375	c.3296A>G	c.(3295-3297)gAg>gGg	p.E1099G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1099	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACACCTGCTCTCAGCGGGCTG	0.652000													8	92					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43436448	43436448	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:43436448A>G	ENST00000395891.1	+	7	1196	c.591A>G	c.(589-591)caA>caG	p.Q197Q	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.Q197Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	197	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGACCGTCCAAGGACAAGGAA	0.418000													4	63					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44514759	44514759	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44514759C>T	ENST00000429154.2	+	5	796	c.568C>T	c.(568-570)Cac>Tac	p.H190Y		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CCAGAGAGTTCACTTGAGAGA	0.463000													66	60					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25119174	25119174	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:25119174A>C	ENST00000332271.5	-	19	2723	c.2307T>G	c.(2305-2307)ttT>ttG	p.F769L	PIWIL3_ENST00000527701.1_Missense_Mutation_p.F651L|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.F651L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	769	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTTTAAGAAAAAATCTAGTGT	0.343000													11	37					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304571	3304571	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3304571G>A	ENST00000219596.1	-	2	536	c.497C>T	c.(496-498)tCg>tTg	p.S166L	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	166					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAGGCCCTCCGAGGCCTTCTC	0.771000													7	4					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843487	38843487	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38843487T>G	ENST00000359357.3	+	51	7344	c.7090T>G	c.(7090-7092)Tta>Gta	p.L2364V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L2328V|DNAH8_ENST00000449981.2_Missense_Mutation_p.L2581V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTTCTGGAATTAGAAAGCAG	0.408000													27	65					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446206	51446206	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:51446206T>G	ENST00000298355.3	-	9	3090	c.1969A>C	c.(1969-1971)Aac>Cac	p.N657H	TRIM9_ENST00000338969.5_Missense_Mutation_p.N738H	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	657	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AATGTCAAGTTTTTTCTATTT	0.453000													12	131					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5832913	5832913	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:5832913G>A	ENST00000339450.5	-	1	204	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L		NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	39					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCATCCACCAGAGGCTCCTGC	0.766000													10	2					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151860080	151860080	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151860080T>G	ENST00000355193.2	-	43	10800	c.10582A>C	c.(10582-10584)Aat>Cat	p.N3528H	KMT2C_ENST00000262189.6_Missense_Mutation_p.N3528H					lysine (K)-specific methyltransferase 2C																		GAAGAAAAATTTGGGCTTCCA	0.498000													28	93					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17457565	17457565	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:17457565A>G	ENST00000380647.3	+	19	3242	c.3158A>G	c.(3157-3159)gAt>gGt	p.D1053G	CNTLN_ENST00000262360.5_Missense_Mutation_p.D1053G|CNTLN_ENST00000425824.1_Missense_Mutation_p.D1053G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1053						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAAAAGAAGATTTACTAAAG	0.289000													15	42					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238301	34238301	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34238301C>T	ENST00000373381.4	-	13	1891	c.1715G>A	c.(1714-1716)aGg>aAg	p.R572K	CSMD2_ENST00000338325.1_Missense_Mutation_p.R180K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	532	Sushi 3.					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)				GGAGCCTTCCCTCCGGCCATA	0.522000													72	58					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482447	76482447	+	Silent	SNP	C	C	T	rs142911375	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76482447C>T	ENST00000389840.5	-	45	7042	c.6918G>A	c.(6916-6918)acG>acA	p.T2306T	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.T2315T|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.T2315T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTGGATCACCGTGATCTCCG	0.567000													17	47					0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141315328	141315328	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141315328A>C	ENST00000355413.4	+	8	741	c.481A>C	c.(481-483)Agt>Cgt	p.S161R	AGK_ENST00000535825.1_Missense_Mutation_p.S158R|AGK_ENST00000473247.1_Missense_Mutation_p.S133R	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	161	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAGTAGTTTGAGTCATACCCT	0.433000													5	151					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77595591	77595591	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:77595591T>A	ENST00000461745.1	+	7	1937	c.1037T>A	c.(1036-1038)tTt>tAt	p.F346Y	ROBO2_ENST00000332191.8_Missense_Mutation_p.F346Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.F362Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	346	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGCTGTTTTTTGGCAGAAA	0.488000													318	147					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201534361	201534361	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201534361A>T	ENST00000374700.2	+	34	4103	c.3862A>T	c.(3862-3864)Agt>Tgt	p.S1288C	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1288					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGACGCAGTGAGTGCAGCACG	0.522000													16	192					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584383	88584383	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88584383G>A	ENST00000339673.6	+	6	1552	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	DMP1_ENST00000282479.7_Missense_Mutation_p.E469K|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	485					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAAAAACATTGAGATAGAGAG	0.463000													40	99					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076963	41076963	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:41076963C>T	ENST00000373198.3	-	9	1692	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	PTPRT_ENST00000373184.1_Missense_Mutation_p.G486E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G486E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G486E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G486E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G486E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G486E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	486	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGAACAGCTCCTGGAACTAC	0.488000													28	88					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49032928	49032928	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:49032928T>C	ENST00000226432.4	+	11	1642	c.1459T>C	c.(1459-1461)Ttg>Ctg	p.L487L	CWH43_ENST00000513409.1_Silent_p.L460L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	487					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGGGAAAAGTTGGGTTTCTA	0.428000													36	75					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105360106	105360106	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105360106C>T	ENST00000453495.1	+	16	4527	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	CEP170B_ENST00000414716.3_Silent_p.F1397F|CEP170B_ENST00000418279.1_Silent_p.F1327F|CEP170B_ENST00000556508.1_Silent_p.F1362F					centrosomal protein 170B																		AGGTGATCTTCGATAACCTGA	0.652000													16	9					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795220	9795220	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9795220C>T	ENST00000377298.4	-	14	2688	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	CLSTN1_ENST00000377288.3_Silent_p.E613E|CLSTN1_ENST00000361311.4_Silent_p.E622E	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	632					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGGTGGCCTCGTTAAAAC	0.577000													65	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659966	179659966	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179659966C>T	ENST00000589042.1	-	7	1152	c.928G>A	c.(928-930)Gca>Aca	p.A310T	TTN_ENST00000342175.6_Missense_Mutation_p.A310T|TTN_ENST00000460472.2_Missense_Mutation_p.A310T|TTN_ENST00000359218.5_Missense_Mutation_p.A310T|TTN_ENST00000591111.1_Missense_Mutation_p.A310T|TTN_ENST00000360870.5_Missense_Mutation_p.A310T|TTN_ENST00000342992.6_Missense_Mutation_p.A310T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	310	ZIS1.						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)			ATTCTTGCTGCTGGAGACACG	0.512000													24	23					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65325834	65325834	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:65325834G>A	ENST00000342505.4	-	9	1536	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ACGATCAACGGGGGGGCCACG	0.542000			Mis		ALL								51	52					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454472	84454472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:84454472G>A	ENST00000377084.2	-	1	2056	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCGATTTTCGGATGCTGTGG	0.448000													59	107					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	13					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882634	144882634	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:144882634C>T	ENST00000369359.4	-	27	3834	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1129K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1129K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1266K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1129				K -> E (in Ref. 4; CAH18128).	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTATTCCCTTCCTTGCTACTC	0.463000			T	PDGFRB	MPD								41	127					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833602	61833602	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61833602A>T	ENST00000280772.1	-	37	7228	c.7037T>A	c.(7036-7038)aTt>aAt	p.I2346N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2346					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTCTAATAATGACTTCAGT	0.393000													18	44					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700666	44700666	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:44700666A>C	ENST00000396056.2	+	4	1046	c.811A>C	c.(811-813)Atc>Ctc	p.I271L	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.I111L|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	271					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCATCAGAGAATCCACACTGG	0.438000													14	37					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215972452	215972452	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:215972452G>A	ENST00000366943.2	-	50	10141	c.9755C>T	c.(9754-9756)cCa>cTa	p.P3252L	USH2A_ENST00000307340.3_Missense_Mutation_p.P3252L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3252					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)		CTGTTCATCTGGACAGCATAC	0.403000										HNSCC(13;0.011)			11	21					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6058429	6058429	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:6058429C>T	ENST00000409021.3	-	12	2151	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E568K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E568K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E383K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E403K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	568	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCACCTTTTCCAGCAAGTCT	0.542000													20	42					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883246	156883246	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156883246G>A	ENST00000338302.3	+	21	2800	c.2575G>A	c.(2575-2577)Gat>Aat	p.D859N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D859N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	859	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAAGGGCATGATAACCACAC	0.677000													40	35					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46238906	46238906	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:46238906C>T	ENST00000252934.5	+	11	1538	c.1273C>T	c.(1273-1275)Ctt>Ttt	p.425_425insF	ATXN10_ENST00000402380.3_Missense_Mutation_p.76_76insF|ATXN10_ENST00000381061.4_Missense_Mutation_p.361_361insF	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	0					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CATCCGAAACCTTACCGAAGA	0.428000													23	72					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105520986	105520986	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:105520986A>C	ENST00000332180.5	+	13	1205	c.1118A>C	c.(1117-1119)aAa>aCa	p.K373T		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	373					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GCAGCTGCCAAACTGCTAGAC	0.363000													11	23					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150883968	150883968	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150883968C>T	ENST00000422024.1	-	1	510	c.385G>A	c.(385-387)Gat>Aat	p.D129N	ASB10_ENST00000434669.1_Missense_Mutation_p.D129N|ASB10_ENST00000275838.1_Missense_Mutation_p.D84N|ASB10_ENST00000420175.2_Missense_Mutation_p.D84N|ASB10_ENST00000377867.3_Intron	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	84					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACGGAATCAGGAGCCAGG	0.637000													20	22					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063414	73063414	+	RNA	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73063414A>T	ENST00000429829.1	-	0	9174					NR_001564.2																						CTTAGTCTAAAAGAAGAGGTG	0.368000													17	15					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189454	167189454	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167189454C>T	ENST00000476257.1	-	3	467	c.169G>A	c.(169-171)Gag>Aag	p.E57K	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E57K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E57K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E57K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	57					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGTACCATCTCAAGAACCAAA	0.383000													12	127					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379197	32379197	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:32379197T>G	ENST00000375200.1	+	15	2804	c.2439T>G	c.(2437-2439)acT>acG	p.T813T	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.T806T|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCGCGGAAACTGAGCTGGTGG	0.711000													20	66					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976911	72976911	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:72976911G>A	ENST00000553530.1	+	14	1222	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	RGS6_ENST00000554782.1_Missense_Mutation_p.E200K|RGS6_ENST00000553525.1_Missense_Mutation_p.E339K|RGS6_ENST00000402788.2_Missense_Mutation_p.E339K|RGS6_ENST00000407322.4_Missense_Mutation_p.E339K|RGS6_ENST00000434263.2_Missense_Mutation_p.E270K|RGS6_ENST00000556437.1_Missense_Mutation_p.E339K|RGS6_ENST00000406236.4_Missense_Mutation_p.E339K|RGS6_ENST00000404301.2_Missense_Mutation_p.E339K|RGS6_ENST00000555571.1_Missense_Mutation_p.E339K|RGS6_ENST00000343854.6_Missense_Mutation_p.E302K|RGS6_ENST00000355512.6_Missense_Mutation_p.E339K	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	339	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTCTTTCGATGAGATATTGAA	0.458000													90	93					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066123	91066123	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:91066123A>G	ENST00000371826.3	+	2	579	c.410A>G	c.(409-411)gAg>gGg	p.E137G	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	137					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GAGAGTCCAGAGCTTGACTGT	0.453000													10	24					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52263739	52263739	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52263739T>C	ENST00000597542.1	-	8	970	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	TWF2_ENST00000305533.5_Missense_Mutation_p.S274G|TWF2_ENST00000499914.2_Intron|TLR9_ENST00000494383.1_Missense_Mutation_p.Q134R			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0			R -> C (in dbSNP:rs5743842).		defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTCTTGCAGCTGGAGTAGAGC	0.617000													6	68					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900064	34900064	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:34900064A>G	ENST00000246535.3	+	4	383		c.e4-1		PDCD2L_ENST00000587065.2_Intron|RP11-618P17.4_ENST00000606020.1_Splice_Site	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like							cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTATTTTTCCAGAAACAGGGA	0.537000													14	85					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154681051	154681051	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:154681051G>A	ENST00000404039.1	+	24	2769	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	DPP6_ENST00000377770.3_Missense_Mutation_p.D792N|DPP6_ENST00000332007.3_Missense_Mutation_p.D730N|DPP6_ENST00000427557.1_Missense_Mutation_p.D685N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	792					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.D728N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCCCACTGCCGATGGTAAGGA	0.478000													17	20					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99995512	99995512	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:99995512G>A	ENST00000198536.2	+	4	896	c.684G>A	c.(682-684)cgG>cgA	p.R228R	PILRA_ENST00000394000.2_Intron|PILRA_ENST00000453419.1_Silent_p.R155R|PILRA_ENST00000350573.2_Silent_p.R155R	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	228					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCAGCAGCGGACTAAAGCCA	0.632000													31	55					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27805257	27805257	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27805257G>A	ENST00000408964.2	+	1	5869	c.5818G>A	c.(5818-5820)Gga>Aga	p.G1940R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1940										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTTAAGGAGGGACTCAAGTA	0.537000													75	30					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508656	123508656	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123508656G>A	ENST00000223026.4	+	3	967	c.329G>A	c.(328-330)gGa>gAa	p.G110E	HYAL4_ENST00000476325.1_Missense_Mutation_p.G110E	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	110					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428000													27	44					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21562383	21562383	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21562383A>C	ENST00000415912.2	-	13	1603	c.1478T>G	c.(1477-1479)tTc>tGc	p.F493C	ECE1_ENST00000436918.2_Missense_Mutation_p.F509C|ECE1_ENST00000374893.6_Missense_Mutation_p.F509C|ECE1_ENST00000357071.4_Missense_Mutation_p.F497C|ECE1_ENST00000264205.6_Missense_Mutation_p.F506C	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	509					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ATCCATGATGAAGTTGGGGTA	0.547000													8	206					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31062143	31062143	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:31062143A>C	ENST00000399914.1	-	3	970	c.449T>G	c.(448-450)cTt>cGt	p.L150R	GRIK1_ENST00000399913.1_Missense_Mutation_p.L150R|GRIK1_ENST00000327783.4_Missense_Mutation_p.L150R|GRIK1_ENST00000535441.1_Missense_Mutation_p.L150R|GRIK1_ENST00000389125.3_Missense_Mutation_p.L150R|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.L150R|GRIK1_ENST00000399909.1_Missense_Mutation_p.L150R|GRIK1_ENST00000389124.2_Missense_Mutation_p.L150R|GRIK1_ENST00000309434.7_Missense_Mutation_p.L150R			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	150					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATCTGGGTAAAGGTTGATGTA	0.468000													30	190					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24445666	24445666	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24445666A>G	ENST00000398319.2	+	7	1025	c.640A>G	c.(640-642)Aga>Gga	p.R214G	CABIN1_ENST00000405822.2_Missense_Mutation_p.R214G|CABIN1_ENST00000263119.5_Missense_Mutation_p.R214G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	214					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGACTCTCTCAGAATGTTCCT	0.522000													26	70					0	0	1	0	0
RNF7	9616	broad.mit.edu	37	3	141462360	141462360	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:141462360T>G	ENST00000273480.3	+	2	323	c.185T>G	c.(184-186)cTt>cGt	p.L62R	RNF7_ENST00000480908.1_Intron|RNF7_ENST00000393000.3_Missense_Mutation_p.L60V	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	62					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GATGCCTGTCTTAGATGTCAA	0.358000													5	100					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151520191	151520191	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:151520191G>A	ENST00000535741.1	-	38	6487	c.6014C>T	c.(6013-6015)cCt>cTt	p.P2005L	LRBA_ENST00000357115.3_Missense_Mutation_p.P2005L|LRBA_ENST00000507224.1_Missense_Mutation_p.P2005L|LRBA_ENST00000510413.1_Missense_Mutation_p.P2005L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2005						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTCGCTTCAGGATGTGTCGA	0.498000													33	32					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134323029	134323029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:134323029G>A	ENST00000508956.1	-	10	1372	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*	KY_ENST00000423778.2_Nonsense_Mutation_p.Q460*|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	460						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATGCCCATCTGCTCCGAGAAC	0.597000													3	15					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108703566	108703566	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:108703566T>A	ENST00000232603.5	-	23	2403	c.2321A>T	c.(2320-2322)aAa>aTa	p.K774I	MORC1_ENST00000483760.1_Missense_Mutation_p.K753I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	774					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTCACCTTTTCCAGCTAGG	0.338000													8	4					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45509014	45509014	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45509014C>T	ENST00000359600.5	-	6	1691	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	496							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAATGTAATTCACGCCCCTCA	0.458000													45	82					0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112066525	112066525	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:112066525A>C	ENST00000315711.8	+	4	599	c.542A>C	c.(541-543)aAt>aCt	p.N181T	CD200_ENST00000473539.1_Missense_Mutation_p.N206T|CD200_ENST00000383681.3_Missense_Mutation_p.N107T	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	181	Ig-like C2-type.			N -> D (in Ref. 1; AAT37533).	regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GGGATTGAAAATAGTACAGTG	0.512000													8	52					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822585	45822585	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45822585C>T	ENST00000177694.1	+	6	1672	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	487					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCCGGAATCCAGTGATTCAG	0.647000													39	1					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962683	34962683	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:34962683G>A	ENST00000329357.5	+	1	1771	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	579										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAAGCCTGATGAACCCGACAT	0.448000													90	3					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33718367	33718367	+	Silent	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:33718367C>G	ENST00000358232.6	+	4	486	c.423C>G	c.(421-423)ctC>ctG	p.L141L	ELP2_ENST00000423854.2_Silent_p.L141L|ELP2_ENST00000442325.2_Silent_p.L141L|ELP2_ENST00000542824.1_Silent_p.L141L|ELP2_ENST00000350494.6_Silent_p.L141L|ELP2_ENST00000351393.6_Silent_p.L141L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	141					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGTTCGACTCTGGTCTAAAA	0.408000													23	3					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6530174	6530174	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6530174T>G	ENST00000254579.6	+	5	1549	c.985T>G	c.(985-987)Ttt>Gtt	p.F329V	DNHD1_ENST00000354685.3_Missense_Mutation_p.F329V|DNHD1_ENST00000527990.2_Missense_Mutation_p.F329V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	329					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)		CTTCTCTCCCTTTGGGATCTT	0.527000													23	97					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46334010	46334010	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46334010G>A	ENST00000529193.1	+	6	1339	c.888G>A	c.(886-888)agG>agA	p.R296R	CREB3L1_ENST00000288400.3_Silent_p.R296R			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	296					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GAGTCCGGAGGAAAATCAAGA	0.592000			T	FUS	myxofibrosarcoma								17	13					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116417948	116417948	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:116417948G>A	ENST00000277895.5	-	1	109	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	4					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTAGACCAAGGAAGGCAGGCA	0.532000													42	56					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74309071	74309071	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74309071A>C	ENST00000446526.3	-	9	1324	c.879T>G	c.(877-879)agT>agG	p.S293R	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.S190R|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	264					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGCAACAAAACTCTCCACAT	0.517000													13	44					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30795606	30795606	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:30795606C>T	ENST00000383096.3	-	19	2168	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	CCDC178_ENST00000403303.1_Missense_Mutation_p.M662I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M662I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M662I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M662I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M662I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M624I|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178									p.M624I(1)|p.M662I(1)									CATAAAAAATCATTGTCTTAC	0.254000													6	0					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026794	65026794	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:65026794G>A	ENST00000262138.3	+	4	660	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	220					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GACCAAACGGGAATTCCTTAA	0.522000													81	4					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78076388	78076388	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:78076388A>C	ENST00000264914.4	-	8	1970	c.1434T>G	c.(1432-1434)gaT>gaG	p.D478E		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	478					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAGGGTCCCGATCAATATCAA	0.498000													8	20					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64189496	64189496	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:64189496T>C	ENST00000354504.3	-	5	944	c.355A>G	c.(355-357)Acc>Gcc	p.T119A	VPS54_ENST00000409558.3_Missense_Mutation_p.T224A|VPS54_ENST00000272322.4_Missense_Mutation_p.T236A			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	236					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGTTGAGAGGTCATTGCATGA	0.393000													15	59					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2634537	2634537	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2634537T>C	ENST00000402050.2	+	16	1551	c.1367T>C	c.(1366-1368)cTt>cCt	p.L456P	IQCE_ENST00000404984.1_Missense_Mutation_p.L405P|IQCE_ENST00000325979.7_Missense_Mutation_p.L391P|IQCE_ENST00000438376.2_Missense_Mutation_p.L440P	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	456										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ATTCAGACACTTACCAGCAAG	0.507000													10	222					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36593010	36593010	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36593010C>T	ENST00000401500.2	+	26	3212	c.3177C>T	c.(3175-3177)ttC>ttT	p.F1059F	WDR62_ENST00000270301.7_Silent_p.F1059F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1059					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGAGAAGTTCCTCCGCCACC	0.652000													49	126					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39741499	39741499	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:39741499A>T	ENST00000361337.2	+	14	1636	c.1386A>T	c.(1384-1386)cgA>cgT	p.R462R	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	462					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ACCAGTATCGAGAAGACTGGA	0.498000			T	NUP98	AML*								9	41					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668596	71668596	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:71668596T>C	ENST00000268485.3	+	3	1140	c.1096T>C	c.(1096-1098)Ttt>Ctt	p.F366L	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	366	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AGCTGGAATCTTTGCTGCCCT	0.527000													25	24					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30219326	30219326	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:30219326A>G	ENST00000261708.4	-	6	514	c.377T>C	c.(376-378)cTt>cCt	p.L126P	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	126					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TACCTTGCTAAGTCGAGTTTT	0.343000													11	20					0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9642361	9642361	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:9642361C>T	ENST00000302692.6	+	7	978	c.768C>T	c.(766-768)gtC>gtT	p.V256V		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	256					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCAGAAGTCATAAGGACGA	0.507000													33	48					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10538757	10538757	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10538757T>C	ENST00000583535.1	-	30	4186	c.4099A>G	c.(4099-4101)Agt>Ggt	p.S1367G	MYH3_ENST00000226209.7_Missense_Mutation_p.S1367G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1367					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						GCAACCTCACTATTGGCCTTG	0.587000													50	158					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120957502	120957502	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:120957502C>T	ENST00000422003.2	+	8	1160	c.972C>T	c.(970-972)atC>atT	p.I324I	TBCEL_ENST00000529397.1_Silent_p.I324I	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	324						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		ATGAACTGATCACTAAATATG	0.403000													4	1					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220435579	220435579	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220435579C>T	ENST00000404537.1	-	1	432	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	INHA_ENST00000489456.1_Intron|OBSL1_ENST00000265318.4_Missense_Mutation_p.G126S|OBSL1_ENST00000373873.4_Missense_Mutation_p.G126S|OBSL1_ENST00000603926.1_Missense_Mutation_p.G126S|OBSL1_ENST00000491370.1_Intron|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.G126S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	126					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACCGGGGCGCCCTCCCCGGAC	0.796000													5	2					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101436178	101436178	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:101436178C>T	ENST00000392979.3	+	11	1342	c.981C>T	c.(979-981)ttC>ttT	p.F327F	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.F362F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	362						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCATGCTCTTCCCAGCTGCCT	0.488000										HNSCC(74;0.22)			24	1					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937234	49937234	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49937234G>A	ENST00000257981.6	+	5	1016	c.756G>A	c.(754-756)cgG>cgA	p.R252R	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	252					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCACAGCACGGGAGCCCAGTG	0.657000													25	3					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830150	38830150	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:38830150T>G	ENST00000436693.2	-	2	1064	c.945A>C	c.(943-945)caA>caC	p.Q315H	TLR6_ENST00000381950.1_Missense_Mutation_p.Q315H	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	315					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGAAAAACTTGGTTCGTGA	0.313000													5	14					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182870235	182870235	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:182870235C>T	ENST00000265598.3	-	3	1071	c.816G>A	c.(814-816)ggG>ggA	p.G272G	LAMP3_ENST00000466939.1_Silent_p.G248G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	272					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGCCACAGTTCCCAGAGGCTT	0.448000													54	452					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556397	44556397	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:44556397G>A	ENST00000289547.4	-	17	3560	c.3505C>T	c.(3505-3507)Ctg>Ttg	p.L1169L	NPC1L1_ENST00000546276.1_Silent_p.L1096L|NPC1L1_ENST00000381160.3_Silent_p.L1142L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1169					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATGGAGAGCAGGTTGAGGAGG	0.607000													12	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466028	179466028	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179466028C>T	ENST00000589042.1	-	287	55920	c.55696G>A	c.(55696-55698)Gaa>Aaa	p.E18566K	TTN_ENST00000342175.6_Missense_Mutation_p.E9693K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9501K|TTN_ENST00000359218.5_Missense_Mutation_p.E9626K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16925K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15998K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16925	Fibronectin type-III 34.						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)			TGAATGGTTTCCACAGGTGGG	0.393000													20	52					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33276295	33276295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33276295G>A	ENST00000373477.4	-	3	1185	c.277C>T	c.(277-279)Cga>Tga	p.R93*		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	93					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TAACTGACTCGGAGTTCTAGA	0.473000													76	48					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21462765	21462765	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21462765C>T	ENST00000339374.6	+	8	994	c.761C>T	c.(760-762)tCa>tTa	p.S254L	METTL17_ENST00000382985.4_Missense_Mutation_p.S254L|METTL17_ENST00000556670.2_Missense_Mutation_p.S254L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	254					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTACCTGTATCACCCAAGGCA	0.453000													15	78					0	0	1	0	0
COMMD3	23412	broad.mit.edu	37	10	22608868	22608868	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:22608868G>A	ENST00000376836.3	+	8	973	c.528_splice	c.e8-1	p.D177_splice	COMMD3-BMI1_ENST00000602390.1_Intron|COMMD3-BMI1_ENST00000463409.2_Intron|COMMD3_ENST00000483684.1_3'UTR	NM_012071.3	NP_036203.1			COMM domain containing 3											kidney(2)|lung(2)|ovary(1)	5						CGTCTTTTAGGACTTGGTGGG	0.418000													38	39					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87735639	87735639	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87735639C>T	ENST00000436978.1	+	48	7888	c.7408C>T	c.(7408-7410)Ctt>Ttt	p.L2470F	PTPN13_ENST00000427191.2_Missense_Mutation_p.L2446F|PTPN13_ENST00000411767.2_Missense_Mutation_p.L2465F|PTPN13_ENST00000511467.1_Missense_Mutation_p.L2470F|PTPN13_ENST00000316707.6_Missense_Mutation_p.L2274F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2465						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGTCATCCTTTATGTCCT	0.348000													11	27					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28584314	28584314	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28584314G>A	ENST00000434452.1	-	13	2061	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	DSC3_ENST00000360428.4_Missense_Mutation_p.S636L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	636	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTTCTGATATGAAAGACGGGC	0.333000													27	4					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001815	177001815	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:177001815C>T	ENST00000367654.2	-	3	655	c.642G>A	c.(640-642)cgG>cgA	p.R214R	ASTN1_ENST00000367657.3_Silent_p.R214R|ASTN1_ENST00000424564.2_Silent_p.R214R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.R214R			O14525	ASTN1_HUMAN	astrotactin 1	214					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCAGGCTCTCCCGTCCGTGCC	0.622000													35	38					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153921837	153921837	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153921837T>G	ENST00000368633.1	-	12	1555	c.1428A>C	c.(1426-1428)aaA>aaC	p.K476N	CRTC2_ENST00000368630.3_Missense_Mutation_p.K156N	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	476					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTGGACAGTTTACTGGTAT	0.547000													16	67					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916183	126916183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:126916183C>T	ENST00000398112.1	+	2	895	c.655C>T	c.(655-657)Cag>Tag	p.Q219*		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TGAAGATTCTCAGCTGGACCC	0.652000													9	34					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086157	16086157	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:16086157G>A	ENST00000281043.3	+	3	1630	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	445	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCTGGAAAAGGAAAAATTGCA	0.493000			A		neuroblastoma								37	122					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30469914	30469914	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30469914G>A	ENST00000355904.4	-	5	733	c.451C>T	c.(451-453)Cta>Tta	p.L151L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	151					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AGCCTAAGTAGGGCCTTCTTA	0.423000													31	26					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542905	55542905	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55542905G>A	ENST00000220676.1	+	4	6611	c.6463G>A	c.(6463-6465)Gat>Aat	p.D2155N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2155					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAACAAGAAGATTTATAATT	0.318000													6	18					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525116	248525116	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248525116C>T	ENST00000366475.1	+	1	234	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTCCTGATCCTTCTGATAC	0.473000													74	154					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247046	149247046	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149247046T>G	ENST00000407073.1	+	12	4143	c.3146T>G	c.(3145-3147)cTt>cGt	p.L1049R	MBD5_ENST00000404807.1_Missense_Mutation_p.L1282R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1049						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACACTACACTTCCACCTTTT	0.488000													11	46					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26581844	26581844	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26581844A>G	ENST00000252992.4	+	4	522	c.391A>G	c.(391-393)Aga>Gga	p.R131G	CEP85_ENST00000451429.2_Missense_Mutation_p.R80G	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	131						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGGAATGACAAGAAATGGAGA	0.468000													61	77					0	0	1	0	0
ARPC4	10093	broad.mit.edu	37	3	9845627	9845627	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:9845627A>G	ENST00000397261.3	+	5	995	c.431A>G	c.(430-432)aAg>aGg	p.K144R	ARPC4_ENST00000498623.2_Missense_Mutation_p.K54R|ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000287613.7_Missense_Mutation_p.K54R|ARPC4_ENST00000433034.1_Missense_Mutation_p.K163R	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					GAGATTGACAAGGAGATCAGT	0.473000													22	85					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535416	27535416	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:27535416C>T	ENST00000574842.1	+	0	255																											CCTGGAACTTCTTTTGTGAGC	0.383000													20	33					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212614	62212614	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:62212614C>T	ENST00000519846.1	+	3	700	c.228C>T	c.(226-228)atC>atT	p.I76I	CLVS1_ENST00000325897.4_Silent_p.I76I|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	76					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.I76I(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATGCCTTCATCCTGAGATTTC	0.458000													26	31					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201930	248201930	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248201930C>T	ENST00000366479.2	+	1	457	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTATGTGGC	0.428000													57	64					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753838	49753838	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:49753838G>A	ENST00000304801.3	-	1	1215	c.1063C>T	c.(1063-1065)Ctc>Ttc	p.L355F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	355					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCATCCATGAGGGCTTTGGTT	0.463000													82	91					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043921	56043921	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:56043921C>T	ENST00000313033.2	+	1	893	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CAATCCTCTTCATGTATGTGA	0.423000													92	103					0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102107895	102107895	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:102107895C>T	ENST00000292616.5	+	4	694	c.542C>T	c.(541-543)cCc>cTc	p.P181L		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	181					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CGCTACGGGCCCGAGTCCCTC	0.617000											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43804333	43804333	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:43804333A>G	ENST00000403856.1	-	11	1012	c.865T>C	c.(865-867)Tgg>Cgg	p.W289R	THADA_ENST00000405006.4_Missense_Mutation_p.W289R|THADA_ENST00000405975.2_Missense_Mutation_p.W289R|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.W289R|THADA_ENST00000402360.2_Missense_Mutation_p.W289R			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	289							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCATAAACCACTCGGGGACA	0.473000											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748871	41748871	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41748871A>C	ENST00000301178.4	+	11	1586	c.1396A>C	c.(1396-1398)Atc>Ctc	p.I466L	AXL_ENST00000359092.3_Missense_Mutation_p.I457L|AXL_ENST00000593513.1_Missense_Mutation_p.I198L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	466						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTGTGTCCTCATCTTGGCTCT	0.582000													17	80					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419242	55419242	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55419242G>A	ENST00000312422.2	+	1	863	c.863G>A	c.(862-864)aGa>aAa	p.R288K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATACACTGAGAAATGCAGAA	0.378000													37	63					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704485	143704485	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:143704485T>G	ENST00000315691.3	+	2	1293	c.758T>G	c.(757-759)tTt>tGt	p.F253C	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.F44C|C3orf58_ENST00000441925.2_Missense_Mutation_p.F15C	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	253						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGAGTTACTTTAATGCGCCA	0.418000													46	172					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48247704	48247704	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48247704G>A	ENST00000262018.3	+	7	984	c.948G>A	c.(946-948)cgG>cgA	p.R316R	SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	316					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCTGCCGGCGGGAGGGAAGGT	0.622000													18	43					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120517	38120517	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38120517T>C	ENST00000406386.3	+	7	2209	c.1954T>C	c.(1954-1956)Tgt>Cgt	p.C652R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	652					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGAACATCCTGTGCCCGACG	0.582000													6	82					0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775159	77775159	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77775159G>A	ENST00000281030.2	+	1	253	c.232G>A	c.(232-234)Gag>Aag	p.E78K	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	78					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			GCTGCCGCGGGAGGAGTGGCA	0.632000													53	63					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46968011	46968011	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46968011G>A	ENST00000371253.2	-	15	2896	c.2681C>T	c.(2680-2682)aCt>aTt	p.T894I	GPR110_ENST00000283297.5_Missense_Mutation_p.T697I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	894					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGAATCTCCAGTATGAGAAAA	0.338000													10	56					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411466	126411466	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:126411466G>A	ENST00000394329.3	+	17	13502	c.13489G>A	c.(13489-13491)Gag>Aag	p.E4497K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2738K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4497					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGCCCTGAAGAGATCTCTCT	0.602000													20	60					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77639588	77639588	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77639588G>A	ENST00000534064.1	-	11	1205	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	INTS4_ENST00000529807.1_Missense_Mutation_p.R391C|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	391					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GCAGCAATACGAACCTCTAGA	0.493000													5	3					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41280772	41280772	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:41280772T>C	ENST00000349496.5	+	15	2565	c.2285T>C	c.(2284-2286)cTc>cCc	p.L762P	CTNNB1_ENST00000453024.1_Missense_Mutation_p.L755P|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000396183.3_Missense_Mutation_p.L762P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.L762P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.L762P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	762					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GCCCAGGACCTCATGGATGGG	0.522000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				10	26					0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124564247	124564247	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124564247A>C	ENST00000532692.1	+	4	1782	c.361A>C	c.(361-363)Atc>Ctc	p.I121L	SPA17_ENST00000227135.2_Missense_Mutation_p.I121L|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	121	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TGCTGTCAAAATCCAAGCTGC	0.403000													20	60					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109524360	109524360	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:109524360G>A	ENST00000409271.1	-	10	1458	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	EDAR_ENST00000258443.2_Missense_Mutation_p.H307Y|EDAR_ENST00000376651.1_Missense_Mutation_p.H339Y			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	307					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGGCCAGGTGAACCAGCGAC	0.642000													22	61					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086301	53086301	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53086301A>C	ENST00000540331.1	+	5	1412	c.1187A>C	c.(1186-1188)gAa>gCa	p.E396A	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.E396A|ZNF701_ENST00000391785.3_Missense_Mutation_p.E330A	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAATGTGAAGAATGTGACAAA	0.378000													22	122					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1024082	1024082	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1024082C>T	ENST00000421673.2	-	25	3297	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1083					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCAGGCCTCGTAGTAGGGC	0.657000													12	19					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479983	130479983	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130479983A>C	ENST00000373289.3	+	4	438	c.358A>C	c.(358-360)Agg>Cgg	p.R120R	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	120							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GAACCTGCGAAGGGCCTACTC	0.632000													4	58					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150048344	150048344	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:150048344A>C	ENST00000369130.3	+	4	869	c.323A>C	c.(322-324)aAg>aCg	p.K108T	VPS45_ENST00000535106.1_Missense_Mutation_p.K108T|VPS45_ENST00000369128.5_Missense_Mutation_p.K72T	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	108					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTGACGTGAAGTCATTGGCT	0.403000													29	72					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18730123	18730123	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:18730123A>G	ENST00000440756.2	-	3	353	c.251T>C	c.(250-252)cTg>cCg	p.L84P	PSD3_ENST00000327040.8_Missense_Mutation_p.L84P|PSD3_ENST00000523619.1_Missense_Mutation_p.L19P			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	84					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCATGGCAGAGCCTCACC	0.522000													15	40					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4794185	4794185	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4794185A>G	ENST00000328914.4	+	3	842	c.842A>G	c.(841-843)gAg>gGg	p.E281G	FOXK1_ENST00000446823.1_Missense_Mutation_p.E118G	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	281					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTGGCAGCAGAGTTTGCAGCA	0.657000													15	32					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9446703	9446703	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9446703A>G	ENST00000379719.3	+	12	1371	c.1229A>G	c.(1228-1230)aAg>aGg	p.K410R		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	410					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTACTGCAAAAGACTATGGGA	0.348000													6	46					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168838	36168838	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36168838C>T	ENST00000357641.6	+	2	992	c.739C>T	c.(739-741)Cca>Tca	p.P247S	BRPF3_ENST00000339717.7_Missense_Mutation_p.P247S|BRPF3_ENST00000534694.1_Missense_Mutation_p.P247S|BRPF3_ENST00000543502.1_Missense_Mutation_p.P247S|BRPF3_ENST00000443324.2_Missense_Mutation_p.P247S|BRPF3_ENST00000534400.1_Missense_Mutation_p.P247S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	247					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTATGGCGTCCCATACATCCC	0.542000													44	54					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211736	38211736	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:38211736G>A	ENST00000379705.3	-	11	3095	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	TRPC4_ENST00000379679.1_Silent_p.F573F|TRPC4_ENST00000358477.2_Silent_p.F746F|TRPC4_ENST00000379681.3_Silent_p.F751F|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Silent_p.F573F|TRPC4_ENST00000379673.2_Silent_p.F681F|TRPC4_ENST00000355779.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	746	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTCAAAGCGGAAACTAGAAA	0.363000													12	13					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48066045	48066045	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:48066045A>G	ENST00000403359.3	-	4	612	c.540T>C	c.(538-540)gcT>gcC	p.A180A	FBXO11_ENST00000316377.4_Silent_p.A96A|FBXO11_ENST00000402508.1_Silent_p.A96A|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Silent_p.A62A	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	180	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TACATACACAAGCTGCTCTAC	0.378000			"""Mis, F, D"""		DLBCL								17	36					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42841327	42841327	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42841327A>G	ENST00000334370.4	+	8	2117	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	MEGF8_ENST00000251268.6_Silent_p.G494G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	494						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGTGTCAGGAGCTGAGCTTG	0.577000													11	69					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905767	38905767	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:38905767G>A	ENST00000359357.3	+	76	11184	c.10930G>A	c.(10930-10932)Gaa>Aaa	p.E3644K	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3608K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3861K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTAGATGACGAATCTCTCAT	0.423000													18	61					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048771	143048771	+	Nonsense_Mutation	SNP	C	C	T	rs55960271		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143048771C>T	ENST00000343257.2	+	23	2767	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	894					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACTTCAACTCGAAAGAGTAC	0.607000													16	43					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119656	42119656	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42119656C>T	ENST00000502486.1	-	6	2063	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	495	BEN.							p.R491L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCGCCCCTGTCGGGCGTGACC	0.527000													11	11					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102785	22102785	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:22102785A>G	ENST00000542433.1	-	1	311	c.214T>C	c.(214-216)Tca>Cca	p.S72P		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCCAGGAATGAGAGCACTCCC	0.532000													9	31					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770985	43770985	+	Missense_Mutation	SNP	A	A	C	rs45495994		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43770985A>C	ENST00000372476.3	+	3	534	c.455A>C	c.(454-456)aAg>aCg	p.K152T	TIE1_ENST00000441333.2_Missense_Mutation_p.K152T|TIE1_ENST00000538015.1_Missense_Mutation_p.K152T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	152					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.K152R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACAAGGAGAAGCAGACAGAC	0.557000													9	17					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58559714	58559714	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:58559714T>G	ENST00000348616.4	+	6	862	c.562T>G	c.(562-564)Tta>Gta	p.L188V	CDH26_ENST00000244047.5_Missense_Mutation_p.L188V	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	188	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTTTCAGATGTTAGCAGTCGA	0.343000													13	53					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119154282	119154282	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:119154282G>A	ENST00000296499.5	+	9	2338	c.1935G>A	c.(1933-1935)ggG>ggA	p.G645G	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	645	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACCACAGGGGGATTGATTGGT	0.353000													28	32					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320887	128320887	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:128320887G>A	ENST00000262462.4	+	2	1553	c.543G>A	c.(541-543)ggG>ggA	p.G181G	SLC27A6_ENST00000506176.1_Silent_p.G181G|SLC27A6_ENST00000395266.1_Silent_p.G181G			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	181					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGTTTGGGGGATGAAAGATT	0.453000													7	8					0	0	1	0	0
TTC32	130502	broad.mit.edu	37	2	20096798	20096798	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:20096798T>G	ENST00000333610.3	-	3	537	c.406A>C	c.(406-408)Att>Ctt	p.I136L	TTC32_ENST00000402414.1_3'UTR	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	136							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTCTAGAATAGTCTGTTTT	0.303000													13	7					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69092038	69092038	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69092038A>C	ENST00000543976.1	-	5	1859	c.1613T>G	c.(1612-1614)cTt>cGt	p.L538R	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.L535R|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	535					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCTAGTGGCAAGTTCTTCTTT	0.358000													5	106					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738771	87738771	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87738771T>G	ENST00000320005.5	-	3	373	c.326A>C	c.(325-327)gAa>gCa	p.E109A	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	109					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTTGGACCTTCTTTCCCGGG	0.448000													105	96					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924082	153924082	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:153924082T>C	ENST00000368633.1	-	11	1185	c.1058A>G	c.(1057-1059)cAg>cGg	p.Q353R	CRTC2_ENST00000368630.3_Splice_Site	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	353	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGGAAGCCTGGAGGTTGGG	0.597000													17	87					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540667	55540667	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55540667G>A	ENST00000220676.1	+	4	4373	c.4225G>A	c.(4225-4227)Gaa>Aaa	p.E1409K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1409					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAAGAAGCAGAACTTGATAA	0.338000													23	33					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049027	2049027	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2049027G>A	ENST00000563630.1	-	10	2226	c.1984C>T	c.(1984-1986)Ctt>Ttt	p.L662F	ZNF598_ENST00000431526.1_Missense_Mutation_p.L717F|ZNF598_ENST00000562103.1_Missense_Mutation_p.L662F			Q86UK7	ZN598_HUMAN	zinc finger protein 598	717	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTAGGCAGAAGGCCAGAGAAG	0.701000													3	5					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026836	93026836	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:93026836T>C	ENST00000523629.1	-	4	893	c.439A>G	c.(439-441)Aga>Gga	p.R147G	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R120G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R110G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R120G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R110G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R147G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R110G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R158G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R110G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	147	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGCGAACTCTTTCTCCTATC	0.517000													24	80					0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38003518	38003518	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:38003518T>G	ENST00000296215.6	-	4	1094	c.1022A>C	c.(1021-1023)aAc>aCc	p.N341T		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	341	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AATACGTTTGTTGTTTAAGAA	0.448000													8	94					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77208904	77208904	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:77208904C>T	ENST00000253506.5	+	4	1878	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	NFATC1_ENST00000427363.2_Silent_p.S503S|NFATC1_ENST00000397790.2_Silent_p.S31S|NFATC1_ENST00000587635.1_Silent_p.S503S|NFATC1_ENST00000318065.5_Silent_p.S490S|NFATC1_ENST00000592223.1_Silent_p.S490S|NFATC1_ENST00000591814.1_Silent_p.S503S|NFATC1_ENST00000586434.1_Silent_p.S490S|NFATC1_ENST00000329101.4_Silent_p.S490S|NFATC1_ENST00000545796.1_Silent_p.S31S|NFATC1_ENST00000542384.1_Silent_p.S503S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	503	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGACCGTGTCCACCACCAGCC	0.647000													30	5					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1056935	1056935	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1056935C>T	ENST00000263094.6	+	34	4847	c.4616C>T	c.(4615-4617)tCc>tTc	p.S1539F	ABCA7_ENST00000433129.1_Missense_Mutation_p.S1539F|ABCA7_ENST00000435683.2_Missense_Mutation_p.S1401F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1539					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCGTCTCCATCTGTGTG	0.587000													77	86					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143771320G>A	ENST00000408898.2	+	1	46	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000													42	47					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534486	241534486	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:241534486A>C	ENST00000391984.2	+	7	1239	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	CAPN10_ENST00000354082.4_Missense_Mutation_p.K348T|CAPN10_ENST00000404753.3_Missense_Mutation_p.K348T|CAPN10_ENST00000391982.2_Missense_Mutation_p.K348T|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	348	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCTGGGTCAAGGGCCAGTCA	0.632000													11	64					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600430	56600430	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56600430G>A	ENST00000270459.3	-	3	229	c.111C>T	c.(109-111)gtC>gtT	p.V37V		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCAGCTGGGGACGTCGTCAT	0.677000													3	12					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012610	29012610	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29012610G>A	ENST00000377175.1	-	1	407	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATAACAGCCAGGAGAAGGCAC	0.418000													32	28					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052741	177052741	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:177052741C>T	ENST00000393643.2	+	7	1202	c.950C>T	c.(949-951)tCc>tTc	p.S317F	WDR17_ENST00000507824.2_Missense_Mutation_p.S324F|WDR17_ENST00000280190.4_Missense_Mutation_p.S341F|WDR17_ENST00000508596.1_Missense_Mutation_p.S317F	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	341										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CATTATACATCCTCAACAAGC	0.373000													51	37					0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27177659	27177659	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27177659C>T	ENST00000374142.3	+	6	968	c.873C>T	c.(871-873)tcC>tcT	p.S291S	ZDHHC18_ENST00000478902.1_3'UTR	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	291						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CCATCTGGTCCATTCTGGGCC	0.572000													75	59					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926983	1926983	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1926983C>T	ENST00000399161.2	-	10	1305	c.558G>A	c.(556-558)aaG>aaA	p.K186K	MYT1L_ENST00000428368.2_Silent_p.K186K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	186					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTTATCATCCTTTTCTGTGT	0.373000													6	12					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128986804	128986804	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:128986804A>C	ENST00000314797.6	+	16	1673	c.1569A>C	c.(1567-1569)gaA>gaC	p.E523D		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	523					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										ATGACAATGAAGTAAGGGACC	0.527000													6	51					0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989226	22989226	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:22989226T>G	ENST00000448514.1	+	2	179	c.179T>G	c.(178-180)tTt>tGt	p.F60C	GGTLC2_ENST00000480559.1_Missense_Mutation_p.F60C			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	60					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GGCGGTAGCTTTGGCTCCAAG	0.592000													6	115					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438157	196438157	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:196438157C>T	ENST00000367433.5	-	6	527	c.426G>A	c.(424-426)ttG>ttA	p.L142L	KCNT2_ENST00000367431.4_Silent_p.L142L|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L142L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	142						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAATTATTTCCAAGATGAAGG	0.318000													5	5					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131726461	131726461	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131726461C>T	ENST00000245407.3	+	7	1353	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	SLC22A5_ENST00000435065.2_Missense_Mutation_p.L402F|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	378					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GAACTGCTTCCTTTCAGCGAT	0.512000													25	21					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21040040	21040040	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21040040C>T	ENST00000247986.2	-	3	697	c.387G>A	c.(385-387)gaG>gaA	p.E129E	KIF17_ENST00000400463.3_Silent_p.E129E|KIF17_ENST00000375044.1_Silent_p.E29E			Q9P2E2	KIF17_HUMAN	kinesin family member 17	129	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ACTTAGTGTTCTCTGCACACT	0.592000													10	16					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9196899	9196899	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:9196899A>G	ENST00000327827.7	+	3	763	c.366A>G	c.(364-366)cgA>cgG	p.R122R		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	122										endometrium(4)|large_intestine(2)|lung(2)	8						GCTATCAGCGACGCAATAAGG	0.393000													13	66					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567146	80567146	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:80567146G>A	ENST00000220876.7	+	4	711	c.329G>A	c.(328-330)aGg>aAg	p.R110K	STMN2_ENST00000518491.1_Missense_Mutation_p.R99K|STMN2_ENST00000518111.1_Missense_Mutation_p.R110K	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	110					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GCAGAGAAGAGGGAACACGAG	0.448000													19	27					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280316	152280316	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152280316C>T	ENST00000368799.1	-	3	7081	c.7046G>A	c.(7045-7047)gGa>gAa	p.G2349E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2349	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAAGCTTGTCCGTGCCCAAT	0.552000									Ichthyosis				112	311					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89789117	89789117	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:89789117A>G	ENST00000297205.2	+	2	215	c.15A>G	c.(13-15)aaA>aaG	p.K5K	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	5					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AAAGCAGAAAAGACATCACAA	0.269000													9	48					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77055372	77055372	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77055372G>A	ENST00000264883.3	-	5	806	c.666C>T	c.(664-666)acC>acT	p.T222T	NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Silent_p.T174T|NUP54_ENST00000342467.6_Silent_p.T42T|NUP54_ENST00000458189.2_Silent_p.T42T	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	222	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTACAGTAAGGGTCTGGTTTC	0.358000													17	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634635	179634635	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179634635G>A	ENST00000589042.1	-	37	8897	c.8673C>T	c.(8671-8673)atC>atT	p.I2891I	TTN_ENST00000342175.6_Silent_p.I2845I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I2845I|TTN_ENST00000359218.5_Silent_p.I2845I|TTN_ENST00000591111.1_Silent_p.I2891I|TTN_ENST00000360870.5_Silent_p.I2891I|TTN_ENST00000342992.6_Silent_p.I2891I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2629	Ig-like 16.						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)			CAGGCACCTCGATATTTTTCA	0.373000													29	15					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	64000927	64000927	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:64000927T>C	ENST00000373789.3	-	4	440	c.344A>G	c.(343-345)gAc>gGc	p.D115G	RTKN2_ENST00000395265.1_Missense_Mutation_p.D115G|RTKN2_ENST00000395260.3_Missense_Mutation_p.D115G	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	115					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGATCAGAGTCTTTCCACAT	0.289000													4	13					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53267620	53267620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:53267620C>T	ENST00000294353.6	+	9	1760	c.1615C>T	c.(1615-1617)Caa>Taa	p.Q539*	ZYG11B_ENST00000545132.1_Nonsense_Mutation_p.Q539*|ZYG11B_ENST00000443756.2_Intron	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	539							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TATTGAAAACCAAGGGTTAGA	0.318000													20	16					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156745894	156745894	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156745894A>T	ENST00000470811.1	+	13	1794	c.459A>T	c.(457-459)atA>atT	p.I153I	LEKR1_ENST00000356539.4_Silent_p.I457I			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCTTACAGATATCTGACTTAA	0.348000													5	53					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2687673	2687673	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:2687673A>C	ENST00000258796.7	+	5	912	c.707A>C	c.(706-708)aAg>aCg	p.K236T	TTYH3_ENST00000403167.1_Missense_Mutation_p.K65T|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Intron	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	236						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCAGCTCCAAGGGCATCCTG	0.662000													17	59					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38885471	38885471	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:38885471G>A	ENST00000274276.3	+	6	1126	c.724G>A	c.(724-726)Gac>Aac	p.D242N	OSMR_ENST00000502536.1_Missense_Mutation_p.D242N	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	242					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGAGCCCAAGGACTTTTCTTG	0.438000													16	71					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228167822	228167822	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228167822G>A	ENST00000396578.3	+	44	4113	c.3951G>A	c.(3949-3951)gtG>gtA	p.V1317V	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1317	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTCCAGGCGTGAAAGGTACTG	0.448000													15	26					0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132484531	132484531	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:132484531C>T	ENST00000372469.4	+	4	889	c.662C>T	c.(661-663)cCc>cTc	p.P221L		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGCTCAGGCCCCGCAACCCCA	0.632000													18	21					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128393297	128393297	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:128393297G>A	ENST00000389524.4	+	43	5799	c.5745_splice	c.e43-1	p.E1916_splice	MYO7B_ENST00000409090.1_Splice_Site_p.E768_splice|MYO7B_ENST00000428314.1_Splice_Site_p.E1915_splice|MYO7B_ENST00000409816.2_Splice_Site_p.E1915_splice			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1915	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATCACCCAGGAGCTGCCCAA	0.637000													11	2					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33073695	33073695	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33073695T>C	ENST00000397149.3	-	2	186	c.136A>G	c.(136-138)Agt>Ggt	p.S46G	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	46	CTLH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GCCACAAAACTCTCAATGCTG	0.453000													5	62					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160734850	160734850	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160734850T>A	ENST00000263636.4	-	11	1786	c.1759A>T	c.(1759-1761)Aat>Tat	p.N587Y	LY75_ENST00000554112.1_Missense_Mutation_p.N587Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N587Y|LY75_ENST00000553424.1_Missense_Mutation_p.N587Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N587Y	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCAAGAAAATTCCAGTTGGAA	0.433000													42	37					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399133	107399133	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:107399133C>T	ENST00000440859.2	+	6	1453	c.986C>T	c.(985-987)tCg>tTg	p.S329L	CBLL1_ENST00000222597.2_Missense_Mutation_p.S328L	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	329	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCAGTGGTATCGCACCCTCAT	0.532000													77	85					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819007	74819007	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:74819007C>T	ENST00000370895.1	+	12	1328	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Silent_p.V431V|FPGT-TNNI3K_ENST00000370899.3_Silent_p.V431V|TNNI3K_ENST00000370891.2_Silent_p.V431V|TNNI3K_ENST00000326637.3_Silent_p.V330V			Q59H18	TNI3K_HUMAN		330						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATCAGAATGTCATAAACATCA	0.368000													9	37					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918640	31918640	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:31918640G>A	ENST00000396184.3	-	5	598	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	PDE1C_ENST00000396191.1_Missense_Mutation_p.H132Y|PDE1C_ENST00000321453.7_Missense_Mutation_p.H132Y|PDE1C_ENST00000396182.2_Missense_Mutation_p.H132Y|PDE1C_ENST00000396193.1_Missense_Mutation_p.H192Y	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	132					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCACTGCGTGAACGATGCTC	0.527000													65	69					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112674890	112674890	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:112674890T>A	ENST00000550722.1	-	35	5260	c.4865A>T	c.(4864-4866)gAg>gTg	p.E1622V	HECTD4_ENST00000430131.2_Missense_Mutation_p.E1346V|HECTD4_ENST00000377560.5_Missense_Mutation_p.E1596V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTGCACAGCCTCTGTGGAGCC	0.557000													3	1					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90429841	90429841	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:90429841A>G	ENST00000335725.4	+	3	633	c.383A>G	c.(382-384)gAa>gGa	p.E128G	TDP1_ENST00000393454.2_Missense_Mutation_p.E128G|TDP1_ENST00000555880.1_Missense_Mutation_p.E128G|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393452.3_Missense_Mutation_p.E128G|TDP1_ENST00000357382.3_5'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	128					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CAAAGAACTGAAAATCATGGC	0.532000								Repair of DNA-protein crosslinks					14	51					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701926	181701926	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181701926G>A	ENST00000526775.1	+	19	2812	c.2647G>A	c.(2647-2649)Gga>Aga	p.G883R	CACNA1E_ENST00000360108.3_Missense_Mutation_p.G883R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G834R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G509R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G902R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G853R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G902R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	902					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCAGGGGGAGGAGAGGCTGT	0.662000													51	64					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987572	50987572	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50987572A>G	ENST00000395676.2	+	1	1111	c.977A>G	c.(976-978)aAc>aGc	p.N326S		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	326										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGTGTTCAACCCCCGGGAG	0.711000													56	99					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4708936	4708936	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4708936T>G	ENST00000540757.2	+	8	923	c.763T>G	c.(763-765)Tgt>Ggt	p.C255G	DYRK4_ENST00000543431.1_Missense_Mutation_p.C255G|DYRK4_ENST00000010132.5_Missense_Mutation_p.C255G	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	255	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGGATCAAGCTGTTATGAACA	0.418000													5	77					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052228	17052228	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:17052228A>G	ENST00000418129.2	+	2	1477	c.1012A>G	c.(1012-1014)Aaa>Gaa	p.K338E	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.K338E|PLCL2_ENST00000432376.1_Missense_Mutation_p.K338E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	464					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCGAGCTCTTAAAATGGGTTG	0.428000													9	83					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149931402	149931402	+	Silent	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:149931402C>A	ENST00000261797.6	+	14	3016	c.2514C>A	c.(2512-2514)ccC>ccA	p.P838P	NDST1_ENST00000523767.1_Silent_p.P781P	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	838	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAATATCCCGAGATGGACT	0.498000													12	18					4.36969e-10	4.39172e-10	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102442086	102442086	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102442086C>T	ENST00000360184.4	+	2	458	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	98	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAAAAGAATTCATTTCCTATA	0.284000													33	48					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595994	52595994	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:52595994C>T	ENST00000395489.2	-	8	819	c.423G>A	c.(421-423)aaG>aaA	p.K141K	A1CF_ENST00000374001.1_Silent_p.K148K|A1CF_ENST00000282641.2_Silent_p.K148K|A1CF_ENST00000373997.3_Silent_p.K148K|A1CF_ENST00000395495.1_Silent_p.K148K|A1CF_ENST00000373995.3_Silent_p.K156K|A1CF_ENST00000373993.1_Silent_p.K148K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	148	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCTTCTCTCTTTTTGGTTT	0.453000													12	2					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922866	150922866	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150922866A>G	ENST00000261800.5	-	9	7834	c.7822T>C	c.(7822-7824)Ttg>Ctg	p.L2608L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2608	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATAGGCCAACACCTGGATA	0.453000													49	57					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821258	151821258	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:151821258C>T	ENST00000370306.2	+	9	1433	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	471						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTAATGGTTTCCAGGCTGATG	0.552000													73	5					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842402	14842402	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:14842402C>T	ENST00000380881.4	-	10	2468	c.1653G>A	c.(1651-1653)gtG>gtA	p.V551V	FREM1_ENST00000380880.3_Silent_p.V550V|FREM1_ENST00000422223.2_Silent_p.V550V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	550					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CACTGGCGTCCACATCTGAAG	0.512000													24	63					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231409	7231409	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:7231409G>A	ENST00000383467.2	+	1	287	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	91										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCGAGGTGGGGAAACTGACCC	0.577000													49	47					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759345	94759345	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:94759345T>A	ENST00000450979.2	+	1	924	c.624T>A	c.(622-624)acT>acA	p.T208T		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	208	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AGCCCAAAACTTGGTACGTGG	0.572000													22	31					0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9547591	9547591	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:9547591T>A	ENST00000360635.3	-	7	1414	c.518A>T	c.(517-519)cAg>cTg	p.Q173L	ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.Q173L|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.Q173L|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.Q173L			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	173	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTGTTGCACTGATAAACCCA	0.493000													14	25					0	0	1	0	0
HSPB2	3316	broad.mit.edu	37	11	111784382	111784382	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111784382C>T	ENST00000304298.3	+	2	900	c.312C>T	c.(310-312)ccC>ccT	p.P104P	CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_5'UTR|HSPB2_ENST00000537382.1_Silent_p.P104P	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	104					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCCGGCACCCCCAGCGCCTGG	0.627000													15	30					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770198	87770198	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87770198A>T	ENST00000273905.6	-	1	218	c.71T>A	c.(70-72)cTg>cAg	p.L24Q	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	24						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ATGCACCTCCAGTCCCACTGG	0.537000													5	57					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174229622	174229622	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:174229622C>T	ENST00000306721.3	+	6	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F	CDCA7_ENST00000347703.3_Missense_Mutation_p.L188F|CDCA7_ENST00000410019.3_Missense_Mutation_p.L146F|CDCA7_ENST00000410101.3_Missense_Mutation_p.L223F|CDCA7_ENST00000392567.2_Missense_Mutation_p.L188F	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	188	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GTCCCGGATCCTCGGGTCCCT	0.552000													19	32					0	0	1	0	0
LMO4	8543	broad.mit.edu	37	1	87797912	87797912	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:87797912C>T	ENST00000370544.5	+	2	994	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.L72F	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	72	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TGGCATGATCCTTTGCAGAAA	0.532000													14	19					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78034136	78034136	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:78034136G>A	ENST00000370801.3	-	13	2822	c.2347C>T	c.(2347-2349)Cct>Tct	p.P783S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.P289S	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TACATGATAGGAATACTTTCG	0.259000													6	9					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165557189	165557189	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:165557189C>T	ENST00000375458.2	-	9	1524	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000342193.4_Missense_Mutation_p.E474K|COBLL1_ENST00000392717.2_Missense_Mutation_p.E512K|COBLL1_ENST00000409184.3_Missense_Mutation_p.E473K|COBLL1_ENST00000194871.6_Missense_Mutation_p.E540K	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	512										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAAATATTTTCAGCTTCAACT	0.358000													41	44					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32502560	32502560	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32502560T>G	ENST00000327300.7	+	5	988	c.821T>G	c.(820-822)tTg>tGg	p.L274W	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.L235W|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	274					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGTCCTACTTGAATGGAGTA	0.493000													26	126					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177300	223177300	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:223177300A>G	ENST00000284476.6	+	8	2725	c.2561A>G	c.(2560-2562)gAg>gGg	p.E854G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	854					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCTTCATTGAGACATTCAAA	0.473000													13	64					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:138452734G>A	ENST00000344876.4	-	1	895	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S170F|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000													15	21					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41900173	41900173	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41900173A>G	ENST00000230340.4	+	7	1418	c.1043A>G	c.(1042-1044)aAg>aGg	p.K348R		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	348					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCTGGATAAGAAGTATGCA	0.562000													7	209					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639145	32639145	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:32639145G>A	ENST00000286827.3	-	5	615	c.144C>T	c.(142-144)atC>atT	p.I48I	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.I48I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	48					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTTCCTGTGGATCACCTTCC	0.637000													32	33					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691093	39691093	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:39691093C>T	ENST00000339852.4	+	5	678	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	219	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CCCCGAACTTCTGGGAGAGGA	0.672000													61	149					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51778589	51778589	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:51778589A>G	ENST00000262676.5	-	3	324	c.164T>C	c.(163-165)cTg>cCg	p.L55P	TTC39A_ENST00000413473.2_Missense_Mutation_p.L62P|TTC39A_ENST00000371750.5_Missense_Mutation_p.L59P|TTC39A_ENST00000451380.1_Missense_Mutation_p.L58P|TTC39A_ENST00000447632.2_Missense_Mutation_p.L59P|TTC39A_ENST00000371747.3_Missense_Mutation_p.L58P|TTC39A_ENST00000262675.7_Missense_Mutation_p.L31P			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	59							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGCATATGTCAGTGAGTGGTA	0.537000													44	273					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583344	88583344	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:88583344G>A	ENST00000339673.6	+	6	513	c.414G>A	c.(412-414)gaG>gaA	p.E138E	DMP1_ENST00000282479.7_Silent_p.E122E|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	138					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAAGTGATGAGGACTCTGATG	0.522000													11	29					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20413969	20413969	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:20413969T>C	ENST00000380338.4	-	5	1161	c.875A>G	c.(874-876)gAa>gGa	p.E292G	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.E289G|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGCTGAGAGTTCTTCAGAATC	0.403000			T	MLL	ALL								42	92					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41437746	41437746	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:41437746T>G	ENST00000318588.9	-	15	1395	c.1350A>C	c.(1348-1350)gaA>gaC	p.E450D	CASK_ENST00000442742.2_Missense_Mutation_p.E450D|CASK_ENST00000421587.2_Missense_Mutation_p.E444D|CASK_ENST00000378154.1_Missense_Mutation_p.E450D|CASK_ENST00000361962.4_Missense_Mutation_p.E450D|CASK_ENST00000378158.1_Missense_Mutation_p.E450D|CASK_ENST00000378163.1_Missense_Mutation_p.E450D|CASK_ENST00000378166.4_Missense_Mutation_p.E450D			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	450	L27 2.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CACTGTAAACTTCATGTGCCA	0.383000													13	11					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498841	142498841	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142498841C>T	ENST00000466254.1	+	0	117																											CTACCCCGACCACGTGGAGCT	0.622000													19	117					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30909680	30909680	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30909680T>A	ENST00000399914.1	-	17	3197	c.2676A>T	c.(2674-2676)gaA>gaT	p.E892D	GRIK1_ENST00000399913.1_Missense_Mutation_p.E878D|GRIK1_ENST00000327783.4_Missense_Mutation_p.E907D|GRIK1_ENST00000535441.1_Missense_Mutation_p.E880D|GRIK1_ENST00000389125.3_Missense_Mutation_p.E863D			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTCCCAGTTCTTCCATGATAG	0.413000													14	12					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963831	123963831	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:123963831A>G	ENST00000314393.4	+	3	916	c.81A>G	c.(79-81)gtA>gtG	p.V27V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	27						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGAGGAAGTAGACAGGGCCA	0.488000													5	22					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378745	138378745	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:138378745A>G	ENST00000356818.2	+	4	2938	c.2389A>G	c.(2389-2391)Agg>Ggg	p.R797G	PPP1R26_ENST00000401470.3_Missense_Mutation_p.R797G|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R797G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R797G|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R797G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	797						nucleolus	protein binding										CTTCCGGGTGAGGAGACCCGC	0.682000													12	39					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183212431	183212431	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:183212431G>A	ENST00000264144.4	+	23	3543	c.3478G>A	c.(3478-3480)Gag>Aag	p.E1160K		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1160	Domain II and I.				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						CCATTTGCTGGAGACAAGCAT	0.552000													38	42					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277162	114277162	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:114277162C>T	ENST00000357077.4	+	38	7441	c.7388C>T	c.(7387-7389)tCc>tTc	p.S2463F	ANK2_ENST00000264366.6_Missense_Mutation_p.S2430F|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2430					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAAAGAATCCCCTTGCCGT	0.493000													49	38					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35705828	35705828	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35705828C>T	ENST00000440995.2	+	18	2568	c.2568C>T	c.(2566-2568)atC>atT	p.I856I	SPEF2_ENST00000509059.1_Silent_p.I856I|SPEF2_ENST00000356031.3_Silent_p.I861I|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	861					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATAAAAATCAATGCTGAAA	0.274000													19	7					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923532	158923532	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158923532T>A	ENST00000367097.3	+	13	4194	c.2837T>A	c.(2836-2838)cTg>cAg	p.L946Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	946					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGAACCGCCTGACCGTCCCT	0.687000													5	54					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496203	41496203	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:41496203G>A	ENST00000400454.1	-	20	4092	c.3615C>T	c.(3613-3615)gtC>gtT	p.V1205V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1205	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGACACAAAGACCATGGAGG	0.562000													62	80					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762957	138762957	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:138762957T>G	ENST00000413199.1	-	1	777	c.506A>C	c.(505-507)gAc>gCc	p.D169A	PRR23C_ENST00000502927.2_Missense_Mutation_p.D169A|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	169										breast(2)|lung(7)|skin(2)	11						GGCTGCGGAGTCCATCCAGAG	0.667000													15	21					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444798	63444798	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:63444798C>T	ENST00000453546.1	-	10	1947	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	ASB12_ENST00000362002.2_Missense_Mutation_p.D245N|ASB12_ENST00000396130.2_Missense_Mutation_p.D236N			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCACCAAAATCGATTAACAGC	0.502000													14	0					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308628	117308628	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:117308628G>A	ENST00000321322.6	-	25	4596	c.4595C>T	c.(4594-4596)gCc>gTc	p.A1532V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1262V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1472	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGGTCTTGGCCTCGATGAT	0.647000													16	2					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028922	68028922	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68028922C>T	ENST00000329153.5	+	7	706	c.574C>T	c.(574-576)Cct>Tct	p.P192S		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	192						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGATTCTGTCCCTTCAGAGCC	0.587000													4	14					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700324	136700324	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:136700324G>A	ENST00000445907.2	+	3	1240	c.712G>A	c.(712-714)Gga>Aga	p.G238R	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G238R|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G238R|CHRM2_ENST00000453373.1_Missense_Mutation_p.G238R|CHRM2_ENST00000397608.3_Missense_Mutation_p.G238R|CHRM2_ENST00000320658.5_Missense_Mutation_p.G238R|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	238					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCTGGTACAAGGAAGGATAGT	0.507000													13	14					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53853695	53853695	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53853695C>T	ENST00000315251.5	-	7	1564	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	376					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GGCAGTGGCTCCCTCCCCTGA	0.627000													8	4					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130160	153130160	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153130160C>T	ENST00000370060.1	-	24	3236		c.e24-1		L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGAGATCCCTGGGGGGATG	0.612000													75	4					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79917931	79917931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:79917931C>T	ENST00000360280.3	+	34	4173	c.3913C>T	c.(3913-3915)Cag>Tag	p.Q1305*	VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1305*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1266*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1305*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1305					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAGTGGTACCAGGAAGTTCC	0.358000													28	55					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428746	139428746	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:139428746C>T	ENST00000272641.3	-	2	647	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	181	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GATTTGGATTCCTTGGTCTCC	0.473000													7	17					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62290026	62290026	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62290026G>T	ENST00000258991.3	-	2	1636	c.1552C>A	c.(1552-1554)Cca>Aca	p.P518T	TEX2_ENST00000584379.1_Missense_Mutation_p.P518T|TEX2_ENST00000583097.1_Missense_Mutation_p.P518T			Q8IWB9	TEX2_HUMAN	testis expressed 2	518					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)		GCACTTGGTGGTGTAAAAAAC	0.438000													91	43					9.1841e-55	9.28454e-55	1	1	0
FATE1	89885	broad.mit.edu	37	X	150885773	150885773	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:150885773G>A	ENST00000370350.3	+	2	221	c.136G>A	c.(136-138)Ggt>Agt	p.G46S		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	46						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGTCCCGGGGTGCCTCCCA	0.507000													111	4					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31374743	31374743	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:31374743A>C	ENST00000355683.5	-	13	1873	c.1658T>G	c.(1657-1659)gTt>gGt	p.V553G	STRN3_ENST00000357479.5_Missense_Mutation_p.V637G	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	637					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATAAAGTCAACTGATGTAGG	0.343000													16	36					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043271	184043271	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184043271A>C	ENST00000342981.4	+	19	3382	c.2968A>C	c.(2968-2970)Aat>Cat	p.N990H	EIF4G1_ENST00000441154.1_Missense_Mutation_p.N826H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.N950H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.N825H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.N949H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.N996H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.N903H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.N793H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.N794H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.N902H|EIF4G1_ENST00000346169.2_Missense_Mutation_p.N989H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.N996H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.N996H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.N989H	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	989	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACAGAGCAATTGGGTGCC	0.572000													8	324					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117306992	117306992	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117306992G>A	ENST00000003084.6	+	27	4405	c.4273G>A	c.(4273-4275)Gat>Aat	p.D1425N	CFTR_ENST00000454343.1_Missense_Mutation_p.D1364N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1425	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCGGCAGTACGATTCCATCCA	0.547000									Cystic Fibrosis				15	30					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151753	3151753	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:3151753G>A	ENST00000400569.3	-	12	2115	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	MYOM1_ENST00000261606.7_Silent_p.F594F|MYOM1_ENST00000356443.4_Silent_p.F594F			P52179	MYOM1_HUMAN	myomesin 1	594	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCGAGATGGGAAACCTATTC	0.458000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	83					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37015009	37015009	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37015009A>C	ENST00000358127.4	-	3	469	c.395T>G	c.(394-396)gTc>gGc	p.V132G	PAX5_ENST00000414447.1_Missense_Mutation_p.V132G|PAX5_ENST00000522003.1_Missense_Mutation_p.V24G|PAX5_ENST00000523145.1_Missense_Mutation_p.V24G|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.V132G|PAX5_ENST00000520154.1_Missense_Mutation_p.V132G|PAX5_ENST00000520281.1_Missense_Mutation_p.V132G|PAX5_ENST00000377847.2_Missense_Mutation_p.V132G|PAX5_ENST00000523241.1_Missense_Mutation_p.V132G|PAX5_ENST00000377852.2_Missense_Mutation_p.V132G	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	132	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GATGGAACTGACGCTAGGCAC	0.572000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								12	168					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432177	10432177	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10432177C>T	ENST00000245503.5	-	27	3958	c.3574G>A	c.(3574-3576)Gaa>Aaa	p.E1192K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1192K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1192					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGTGGCTTCATGCTGTAGG	0.582000													143	8					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488382	1488382	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:1488382G>A	ENST00000345913.4	+	9	1444	c.1353G>A	c.(1351-1353)agG>agA	p.R451R	TPO_ENST00000337415.3_Silent_p.R451R|TPO_ENST00000346956.3_Silent_p.R451R|TPO_ENST00000329066.4_Silent_p.R451R|TPO_ENST00000349624.3_Silent_p.R278R|TPO_ENST00000382201.3_Silent_p.R451R|TPO_ENST00000382198.1_Silent_p.R278R|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	451					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCACCCTGAGGGATTACATCC	0.577000													14	30					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57958276	57958276	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57958276C>T	ENST00000455537.2	+	5	704	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	KIF5A_ENST00000286452.5_Missense_Mutation_p.R55C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	144	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R144C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACAAAATTCGTGACCTTCT	0.418000													28	35					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756165	145756165	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145756165G>A	ENST00000276826.5	-	9	3179	c.2978C>T	c.(2977-2979)cCc>cTc	p.P993L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P993L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P1024L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	993	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCCGCCTCGGGGCTGTCGTA	0.677000													10	38					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45514041	45514041	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45514041C>T	ENST00000291574.4	+	20	3270	c.3095C>T	c.(3094-3096)tCc>tTc	p.S1032F	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1032					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.S1032F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTGGATTTTCCCCAGCTTCT	0.448000													41	83					0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19611757	19611757	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:19611757G>A	ENST00000325411.5	-	7	645	c.595C>T	c.(595-597)Cca>Tca	p.P199S	SLC47A2_ENST00000350657.5_Intron|SLC47A2_ENST00000463318.1_Intron	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	199						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GAGTGAGATGGATGGAGGATG	0.557000													119	163					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179052105	179052105	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:179052105T>G	ENST00000326361.3	+	7	1798	c.1353T>G	c.(1351-1353)gaT>gaG	p.D451E	ZNF639_ENST00000484866.1_Missense_Mutation_p.D451E|ZNF639_ENST00000496856.1_Missense_Mutation_p.D451E	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	451	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTCATCTAGATTTCAAGCATT	0.328000													5	66					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597156	136597156	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:136597156C>T	ENST00000531224.1	-	5	1759	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E501K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E501K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E503K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E501K|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	503					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGAGCTTTTCAGACTTTACC	0.403000													52	95					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69221037	69221037	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69221037T>C	ENST00000542259.1	-	24	3369	c.2918A>G	c.(2917-2919)gAt>gGt	p.D973G	FRMD4B_ENST00000398540.3_Missense_Mutation_p.D1027G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.D679G			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	1027						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		AGGCTTTGAATCTTCATGCCA	0.453000													14	382					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137257	33137257	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33137257C>T	ENST00000341947.2	-	51	3928	c.3701G>A	c.(3700-3702)gGg>gAg	p.G1234E	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1208E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1153E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1174E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1187E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1148E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1213E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1127E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1234	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCACGTTCCCCGCGTGGACC	0.627000													9	41					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330737	66330737	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66330737G>A	ENST00000513398.1	+	0	2876				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCGTCCCTCGGAGCAAGGGCC	0.547000													19	14					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43651027	43651027	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43651027G>A	ENST00000372492.4	+	5	1293	c.969_splice	c.e5+1	p.R323_splice	WDR65_ENST00000528956.1_Splice_Site_p.R323_splice	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	323										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGAAATCAGGGTAAGGCGGG	0.478000													30	62					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485276	97485276	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:97485276C>T	ENST00000376705.2	+	2	1264	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	414						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAAGATCTCTTCCAGCA	0.587000													22	51					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105367188C>T	ENST00000297581.2	+	3	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000													23	29					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28843482	28843482	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28843482G>A	ENST00000422425.2	+	47	3410	c.3366G>A	c.(3364-3366)ggG>ggA	p.G1122G	PLB1_ENST00000541605.1_Silent_p.G98G|PLB1_ENST00000327757.5_Silent_p.G1133G	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1133	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGGGGATGGGAACTTGGAGA	0.567000													6	4					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737584	13737584	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13737584A>T	ENST00000265104.4	-	66	11336	c.11232T>A	c.(11230-11232)acT>acA	p.T3744T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3744	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATCAGATGAGTTCTTTCTT	0.378000									Kartagener syndrome				8	47					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26886187	26886187	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:26886187A>G	ENST00000231021.4	-	10	1690	c.1518T>C	c.(1516-1518)atT>atC	p.I506I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	506	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGACAGTCTGAATCAACTGAA	0.338000													14	134					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101818595	101818595	+	RNA	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:101818595A>T	ENST00000360035.2	+	0	1065					NR_002216.1															endometrium(2)|lung(8)	10						CTTGTGCGACAACAAACTGTA	0.443000													11	0					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332666	22332666	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22332666C>T	ENST00000558896.1	+	0	473																											TAGGGGATTTCCTACAGCAGG	0.443000													20	56					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90438434	90438434	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:90438434A>C	ENST00000394375.3	+	11	1336	c.1223A>C	c.(1222-1224)aAg>aCg	p.K408T	LIPF_ENST00000238983.4_Missense_Mutation_p.K398T|LIPF_ENST00000355843.2_Missense_Mutation_p.K365T	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	398					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GAAGATAAAAAGTAGTTCTGG	0.318000													6	7					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158540165	158540165	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158540165G>C	ENST00000367102.2	-	12	1345	c.1204C>G	c.(1204-1206)Ctt>Gtt	p.L402V	SERAC1_ENST00000367104.3_Missense_Mutation_p.L402V|SERAC1_ENST00000367101.1_Missense_Mutation_p.L402V			Q96JX3	SRAC1_HUMAN	serine active site containing 1	402					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCTCCCATAAGGCCATGAATA	0.428000													3	9					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	23997594	23997594	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:23997594T>C	ENST00000312521.4	+	3	669	c.350T>C	c.(349-351)gTt>gCt	p.V117A	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	117					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CACTATGGAGTTCATGCTTGC	0.413000													87	48					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27720146	27720146	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:27720146G>A	ENST00000264717.2	+	2	159	c.96G>A	c.(94-96)gaG>gaA	p.E32E	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	32					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CAATCACGGAGAAGTCAAACC	0.537000													49	30					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254197	39254197	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39254197G>A	ENST00000333822.4	-	1	196	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	47	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCAGCAGCAGGACACACTGTA	0.662000													19	50					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640281	3640281	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3640281T>G	ENST00000294008.3	-	12	3998	c.3358A>C	c.(3358-3360)Aaa>Caa	p.K1120Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1120	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GACGGAGATTTTTCTGGGAAC	0.498000								Direct reversal of damage					26	54					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132466780	132466780	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:132466780C>T	ENST00000333577.4	+	6	1903	c.1794C>T	c.(1792-1794)ccC>ccT	p.P598P	EP400_ENST00000330386.6_Silent_p.P562P|EP400_ENST00000389562.2_Silent_p.P561P|EP400_ENST00000332482.4_Silent_p.P525P|EP400_ENST00000389561.2_Silent_p.P562P			Q96L91	EP400_HUMAN	E1A binding protein p400	598					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGAGGCTGCCCCCAGCCGGTG	0.657000													44	2					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103270610	103270610	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:103270610C>T	ENST00000428762.1	-	20	2638	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	RELN_ENST00000424685.2_Missense_Mutation_p.E827K|RELN_ENST00000343529.5_Missense_Mutation_p.E827K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	827					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTGGTAGTTCTACGGAGATT	0.343000													21	38					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36026318	36026318	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:36026318G>A	ENST00000540320.1	+	40	6928	c.6394G>A	c.(6394-6396)Gga>Aga	p.G2132R	NBEA_ENST00000310336.4_Missense_Mutation_p.G2132R|NBEA_ENST00000400445.3_Missense_Mutation_p.G2132R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2129R			Q8NFP9	NBEA_HUMAN	neurobeachin	2132						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATGCTGGAAGGAGACGATGA	0.353000													5	17					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165552335	165552335	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:165552335C>T	ENST00000375458.2	-	11	1788	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	COBLL1_ENST00000342193.4_Missense_Mutation_p.E561K|COBLL1_ENST00000392717.2_Missense_Mutation_p.E599K|COBLL1_ENST00000409184.3_Missense_Mutation_p.E561K|COBLL1_ENST00000194871.6_Missense_Mutation_p.E628K	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	599										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACAATTATTTCATTTTGAACT	0.299000													18	13					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38340514	38340514	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38340514G>A	ENST00000436615.3	+	3	520	c.30G>A	c.(28-30)aaG>aaA	p.K10K	RAPGEFL1_ENST00000544503.1_Silent_p.K59K|RAPGEFL1_ENST00000456989.2_Silent_p.K65K|RAPGEFL1_ENST00000264644.6_Silent_p.K10K|RAPGEFL1_ENST00000540388.1_3'UTR	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	216					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGGGCCGGAAGCAAGCCTGTC	0.577000													174	96					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444145	49444145	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49444145C>T	ENST00000301067.7	-	11	3225	c.3226G>A	c.(3226-3228)Gag>Aag	p.E1076K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GAAACTTTCTCAGTCTCCATC	0.612000													10	29					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794860	124794860	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:124794860C>T	ENST00000298251.4	-	2	596	c.191G>A	c.(190-192)aGg>aAg	p.R64K		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	64	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CACTACAGGCCTGTCGCTGCT	0.617000													35	3					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102446267	102446267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102446267C>T	ENST00000360184.4	+	4	894	c.730C>T	c.(730-732)Cag>Tag	p.Q244*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	244	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATTTCTTAATCAGTTACAATC	0.358000													44	59					0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7743386	7743386	+	Missense_Mutation	SNP	C	C	T	rs139191722		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7743386C>T	ENST00000333598.3	+	5	837	c.383C>T	c.(382-384)tCc>tTc	p.S128F	CTD-3214H19.16_ENST00000597959.1_Intron|C19orf59_ENST00000597445.1_Missense_Mutation_p.S85F	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	128						integral to membrane		p.S128F(1)		endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GTCTCAAACTCCGTACAAGCA	0.547000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416817	179416817	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179416817A>G	ENST00000589042.1	-	335	91034	c.90810T>C	c.(90808-90810)acT>acC	p.T30270T	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.T21397T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T21205T|TTN_ENST00000359218.5_Silent_p.T21330T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.T28629T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.T27702T|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28629	Fibronectin type-III 121.						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)			TCTTCCAGTTAGTTTGTGAAG	0.423000													39	52					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238068	26238068	+	RNA	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:26238068T>A	ENST00000519902.1	-	0	1880																											CTTTAGTAGTTTTTCTGCAAA	0.398000													6	48					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587754	36587754	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:36587754C>T	ENST00000273183.3	+	11	1482	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	STAC_ENST00000457375.2_Silent_p.I333I	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	394					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAGGCCTCATCCCCCTTGATG	0.458000													40	20					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4837773	4837773	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:4837773A>C	ENST00000379333.1	-	17	2190	c.1798T>G	c.(1798-1800)Tcg>Gcg	p.S600A	SLC23A2_ENST00000338244.1_Missense_Mutation_p.S600A|SLC23A2_ENST00000424750.2_Missense_Mutation_p.S486A	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	600					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAATTGTACGACTCCATGCCG	0.463000													6	64					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265223	39265223	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39265223T>G	ENST00000280481.7	+	1	3958	c.3742T>G	c.(3742-3744)Ttg>Gtg	p.L1248V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1248					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)		TGGCACGGTTTTGGTCGAAAG	0.428000													17	171					0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23421823	23421823	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23421823T>A	ENST00000206474.7	-	3	377	c.125A>T	c.(124-126)aAg>aTg	p.K42M	RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.K42M|HAUS4_ENST00000397409.4_Missense_Mutation_p.K42M|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000347758.2_Missense_Mutation_p.K42M|HAUS4_ENST00000342454.8_Missense_Mutation_p.K42M|HAUS4_ENST00000555367.1_Missense_Mutation_p.K42M|HAUS4_ENST00000555986.1_Missense_Mutation_p.K42M|HAUS4_ENST00000490506.1_Intron|RP11-298I3.5_ENST00000555074.1_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	42					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CAGGAGAAGCTTGCTGAAGTA	0.468000													22	58					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47501479	47501479	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:47501479A>T	ENST00000359314.5	+	3	763	c.307A>T	c.(307-309)Aac>Tac	p.N103Y		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	103	Interaction with ANLN and localization to the midbody.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACAAACCAAAAACATTAAGAA	0.348000													4	25					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111899363	111899363	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111899363A>C	ENST00000280346.6	+	3	1165	c.506_splice	c.e3+1	p.K169_splice	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Splice_Site_p.K169_splice	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	169					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ACAGTTGGCAAGTGAGTAGTG	0.413000													16	17					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134536	126134536	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:126134536G>A	ENST00000373631.3	+	9	2518	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G	CRB2_ENST00000359999.3_Silent_p.G839G|CRB2_ENST00000373629.2_Silent_p.G507G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	839	EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATTTCACGGGGCCTACGTGTG	0.612000													47	27					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73965443	73965443	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73965443C>T	ENST00000373468.1	-	2	694	c.43G>A	c.(43-45)Gga>Aga	p.G15R	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G15R			Q5QGS0	K2022_HUMAN	KIAA2022	15					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTTTTCTCCGTTGGCTGAG	0.363000													24	1					0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123536882	123536882	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:123536882C>T	ENST00000264497.3	-	3	372	c.315G>A	c.(313-315)agG>agA	p.R105R		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	98					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AAGGTGGTTTCCTCTTCAGCT	0.363000													18	41					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36742782	36742782	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36742782A>C	ENST00000244751.2	-	10	1317	c.693T>G	c.(691-693)acT>acG	p.T231T		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	231	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GAATGGAGAAAGTTTGCCAGA	0.517000													3	31					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39560824	39560824	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:39560824A>G	ENST00000307712.6	-	5	977	c.460T>C	c.(460-462)Tca>Cca	p.S154P	SEC23A_ENST00000545328.2_Missense_Mutation_p.S125P|SEC23A_ENST00000536508.1_Missense_Mutation_p.S28P	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	154					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGACTTAATGACATCTGCATG	0.393000													15	53					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169572304	169572304	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:169572304A>G	ENST00000263686.6	-	10	1702	c.1665T>C	c.(1663-1665)acT>acC	p.T555T	SELP_ENST00000367794.2_Silent_p.T493T|SELP_ENST00000367788.2_Silent_p.T493T|SELP_ENST00000367786.2_Silent_p.T493T|SELP_ENST00000367793.2_Silent_p.T493T|SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Silent_p.T431T|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	555	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCCGATCGAGTACAATCCA	0.453000													6	51					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334299	175334299	+	Missense_Mutation	SNP	C	C	T	rs139055042		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:175334299C>T	ENST00000367674.1	-	12	3142	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	TNR_ENST00000263525.2_Missense_Mutation_p.D812N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	812	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.D812H(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCCTCATCCCTGGGGCTG	0.517000													28	33					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089054	86089054	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:86089054C>T	ENST00000330753.4	+	2	1963	c.1196C>T	c.(1195-1197)aCt>aTt	p.T399I	FLRT2_ENST00000554746.1_Missense_Mutation_p.T399I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	399					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGCCTCCAACTCCTACCACA	0.542000													19	48					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73110317	73110317	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:73110317A>T	ENST00000264839.7	+	30	4527	c.4527A>T	c.(4525-4527)ccA>ccT	p.P1509P	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Silent_p.P187P|RIMS1_ENST00000522291.1_Silent_p.P1259P|RIMS1_ENST00000348717.5_Silent_p.P1443P|RIMS1_ENST00000491071.2_Silent_p.P1449P|RIMS1_ENST00000518273.1_Silent_p.P1339P|RIMS1_ENST00000517827.1_Silent_p.P794P|RIMS1_ENST00000517960.1_Silent_p.P1443P|RIMS1_ENST00000538414.1_Silent_p.P466P|RIMS1_ENST00000401910.3_Silent_p.P980P|RIMS1_ENST00000523963.1_Silent_p.P785P|RIMS1_ENST00000520567.1_Silent_p.P1310P|RIMS1_ENST00000425662.2_Silent_p.P728P|RIMS1_ENST00000521978.1_Silent_p.P1660P			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1660					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATTGTTCCCACCGTCCTCAC	0.527000													50	2					0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31097483	31097483	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31097483G>A	ENST00000280606.6	-	6	838	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	229	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						TCGAGGCACAGCACAGGGCCC	0.607000													25	20					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199591	117199591	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117199591C>T	ENST00000003084.6	+	11	1598	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	CFTR_ENST00000454343.1_Missense_Mutation_p.S428L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	489	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGAAGAATTTCATTCTGTTCT	0.368000									Cystic Fibrosis				54	48					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558530	11558530	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11558530C>T	ENST00000252455.2	+	12	1367	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	PRKCSH_ENST00000591462.1_Intron|PRKCSH_ENST00000592741.1_Missense_Mutation_p.P351L|PRKCSH_ENST00000587327.1_Intron|PRKCSH_ENST00000589838.1_Missense_Mutation_p.P344L|PRKCSH_ENST00000412601.1_Intron	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	344				EAPPPLSPPQ -> VQGEQPK (in Ref. 5; AAH15154).	innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCACTGTCACCCCCGCAGCCG	0.677000													7	8					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452352	203452352	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:203452352T>G	ENST00000343110.2	+	2	167	c.40T>G	c.(40-42)Ttg>Gtg	p.L14V		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	14					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTTCTCATCTTGGCCTCAGT	0.627000													9	139					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50667857	50667857	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50667857C>A	ENST00000439308.2	-	4	1758	c.1266G>T	c.(1264-1266)ttG>ttT	p.L422F	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L422F	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	422					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTTGCTGTACAAAGAGTCCA	0.567000													18	17					4.75885e-15	4.79266e-15	1	1	0
SLC35F2	54733	broad.mit.edu	37	11	107686576	107686576	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:107686576T>C	ENST00000525071.1	-	5	814	c.226A>G	c.(226-228)Agc>Ggc	p.S76G	SLC35F2_ENST00000375682.4_Missense_Mutation_p.S29G|SLC35F2_ENST00000525815.1_Missense_Mutation_p.S76G|SLC35F2_ENST00000265836.7_Intron|SLC35F2_ENST00000429869.1_Missense_Mutation_p.S76G			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	76					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TTGATAAAGCTCTGAAGCATG	0.398000													32	48					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688825	26688825	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26688825G>A	ENST00000272371.2	-	37	4746	c.4620C>T	c.(4618-4620)gtC>gtT	p.V1540V	OTOF_ENST00000338581.6_Silent_p.V773V|OTOF_ENST00000339598.3_Silent_p.V773V|OTOF_ENST00000402415.3_Silent_p.V850V|OTOF_ENST00000403946.3_Silent_p.V1540V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1540	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCCCAAAGACAGGGTTGA	0.552000													16	45					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963620	7963620	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:7963620A>C	ENST00000306708.6	+	3	314	c.213A>C	c.(211-213)caA>caC	p.Q71H		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	71						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTGCCAGCAATTGCTGCCTC	0.517000													38	165					0	0	1	0	0
C17orf100	388327	broad.mit.edu	37	17	6555499	6555499	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:6555499C>T	ENST00000391428.2	+	1	529	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001105520.1	NP_001098990.1	D3DTM5	D3DTM5_HUMAN	chromosome 17 open reading frame 100	89																	AGAGCCTCGTCCCTGAGGGTG	0.687000													43	2					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5841770	5841770	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:5841770G>A	ENST00000546188.1	-	15	1535	c.1464C>T	c.(1462-1464)acC>acT	p.T488T	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Silent_p.T487T|ANO2_ENST00000356134.5_Silent_p.T488T			Q9NQ90	ANO2_HUMAN	anoctamin 2	492						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCGAACTTTGGTTTCATACT	0.448000													6	36					0	0	1	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926429	106926429	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106926429C>T	ENST00000434710.1	-	0	192																											ACAGGAGAGTCTCAGGGACCC	0.567000													43	164					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45295589	45295589	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:45295589C>T	ENST00000447098.2	-	7	938	c.927G>A	c.(925-927)gaG>gaA	p.E309E	PTCH2_ENST00000372192.3_Silent_p.E309E	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	309					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ACCTCAGCAGCTCTCCTTGGG	0.577000									Basal Cell Nevus syndrome				26	16					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61537257	61537257	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:61537257G>A	ENST00000266070.4	-	6	1895	c.1570C>T	c.(1570-1572)Ccg>Tcg	p.P524S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P524S|DIDO1_ENST00000370371.4_Missense_Mutation_p.P524S|DIDO1_ENST00000354665.4_Missense_Mutation_p.P524S|DIDO1_ENST00000370366.1_Missense_Mutation_p.P524S|DIDO1_ENST00000266071.5_Missense_Mutation_p.P524S|DIDO1_ENST00000395335.2_Missense_Mutation_p.P524S|DIDO1_ENST00000370368.1_Missense_Mutation_p.P524S|DIDO1_ENST00000395340.1_Missense_Mutation_p.P524S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	524					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACAGTGACGGCGAGGGAGCA	0.562000													90	93					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212934	10212934	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10212934C>T	ENST00000418404.3	-	33	5033	c.4870G>A	c.(4870-4872)Gga>Aga	p.G1624R	MYH13_ENST00000252172.4_Missense_Mutation_p.G1624R|MYH13_ENST00000570743.1_Missense_Mutation_p.G1624R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1624					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTAAGGTCTCCCTCCATCTTC	0.587000													8	6					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75520529	75520529	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:75520529A>G	ENST00000339365.2	+	7	1071	c.909A>G	c.(907-909)gcA>gcG	p.A303A	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Silent_p.A161A|SEC24C_ENST00000345254.4_Silent_p.A303A|SEC24C_ENST00000411652.2_Silent_p.A161A	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	303					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|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACCCAGCAGCACCCACCTTTG	0.572000													7	37					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37381772	37381772	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:37381772A>C	ENST00000265107.4	+	3	316	c.160A>C	c.(160-162)Agt>Cgt	p.S54R	WDR70_ENST00000504564.1_Missense_Mutation_p.S54R	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	54										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGAAAGAAGTCGCAAAAC	0.353000													5	83					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346877	346877	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:346877G>A	ENST00000400256.3	-	5	952	c.745C>T	c.(745-747)Ctt>Ttt	p.L249F		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	249					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.L249I(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGGCTTGAAGAAAAACCTGC	0.517000													52	44					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675875	167675875	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:167675875C>T	ENST00000357154.3	-	9	861	c.724G>A	c.(724-726)Gat>Aat	p.D242N	SPOCK3_ENST00000511531.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D239N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D144N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D239N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D146N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D122N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D191N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D239N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D199N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D110N|SPOCK3_ENST00000512648.1_Missense_Mutation_p.D239N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D144N|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	242					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATGCTGGTATCGAATCCTAAA	0.388000													26	36					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457936	45457936	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:45457936C>T	ENST00000548424.1	+	0	448																											GTACAGTTTTCACTCTGAGGA	0.428000													20	78					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	876270	876270	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:876270G>A	ENST00000323510.4	-	9	1040	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	BRD9_ENST00000467963.1_Silent_p.L443L|BRD9_ENST00000483173.1_Silent_p.L390L|BRD9_ENST00000388890.4_Silent_p.L327L|BRD9_ENST00000435709.2_3'UTR			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	443							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCTGGTCCAGGAGGTCGTCCA	0.622000													46	31					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36357240	36357240	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:36357240G>A	ENST00000312412.4	-	9	1012	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.S183F																kidney(1)|lung(3)	4						TGAAGAACAGGAATTTTTTGG	0.343000													4	31					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895410	42895410	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:42895410G>A	ENST00000399770.2	+	1	127	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	43					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGGCTCTCTGGATTCTGAATG	0.507000													47	97					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65631368	65631368	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65631368A>G	ENST00000308110.4	+	10	1404	c.1055A>G	c.(1054-1056)cAg>cGg	p.Q352R	MUS81_ENST00000533035.1_Missense_Mutation_p.Q277R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	352	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TTCCGGGAGCAGAAGGTAATT	0.587000								Homologous recombination					22	63					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792319	143792319	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:143792319G>A	ENST00000408949.2	+	1	179	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTGATGGGAAATGGGATT	0.493000													31	38					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442643	25442643	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25442643C>T	ENST00000424208.1	+	0	1619				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATGCCCTGGTCTCCTGCACTG	0.582000													42	2					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44929548	44929548	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44929548A>G	ENST00000371460.1	-	9	872	c.555T>C	c.(553-555)acT>acC	p.T185T	SUPT3H_ENST00000371459.1_Silent_p.T174T|SUPT3H_ENST00000306867.5_Silent_p.T174T|SUPT3H_ENST00000371461.2_Silent_p.T185T	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	256					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						CCATAATTCGAGTTTGTCTTT	0.274000													10	37					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911136	89911136	+	Missense_Mutation	SNP	G	G	A	rs150474449		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:89911136G>A	ENST00000534061.1	+	16	1939	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.R537Q|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	570	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTCAATTACGAGGAGCACTG	0.348000													34	7					0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894838	48894838	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48894838A>C	ENST00000508632.1	-	6	566	c.334T>G	c.(334-336)Ttt>Gtt	p.F112V	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	112	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TCTTCAAAAAAATGGAATTTA	0.398000													17	153					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086844	101086844	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:101086844C>T	ENST00000394095.2	-	8	861	c.808G>A	c.(808-810)Gga>Aga	p.G270R	SENP7_ENST00000394091.1_Missense_Mutation_p.G106R|SENP7_ENST00000314261.7_Missense_Mutation_p.G204R|SENP7_ENST00000358203.3_Missense_Mutation_p.G106R|SENP7_ENST00000348610.3_Missense_Mutation_p.G237R|SENP7_ENST00000394094.2_Missense_Mutation_p.G205R	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	270					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTCTACTTCCACTGTTAAGG	0.348000													14	16					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30103745	30103745	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:30103745G>A	ENST00000331968.5	-	8	1422	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	PRKD1_ENST00000415220.2_Missense_Mutation_p.P406L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	398					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCTTGTTGATGGACTTGAGAA	0.383000													72	41					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196738409	196738409	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196738409C>T	ENST00000312428.6	-	39	6396	c.6296G>A	c.(6295-6297)cGa>cAa	p.R2099Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACTGGATTTCGACCACCACC	0.274000													11	13					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962357	235962357	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:235962357A>G	ENST00000409212.1	+	6	3296	c.2789A>G	c.(2788-2790)aAg>aGg	p.K930R	SH3BP4_ENST00000392011.2_Missense_Mutation_p.K930R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K930R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	930					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCATCACCAAGCGCTGGAAG	0.577000													34	131					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180229	117180229	+	Silent	SNP	C	C	T	rs75528968		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117180229C>T	ENST00000003084.6	+	8	1077	c.945C>T	c.(943-945)ttC>ttT	p.F315F	CFTR_ENST00000454343.1_Silent_p.F315F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	315	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGGGTTCTTTGTGGTGT	0.398000									Cystic Fibrosis				27	38					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359700	99359700	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:99359700T>A	ENST00000354593.2	-	6	870	c.767A>T	c.(766-768)aAg>aTg	p.K256M	CYP3A4_ENST00000336411.2_Missense_Mutation_p.K406M			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	406					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|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|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTCCAGTACTTTGGGTCACG	0.517000													4	143					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284395	27284395	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:27284395T>C	ENST00000317338.12	-	12	2893	c.2465A>G	c.(2464-2466)aAg>aGg	p.K822R	SEZ6_ENST00000442608.3_Missense_Mutation_p.K822R|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.K822R|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	822	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTCACTCCACTTGGGGCTGCC	0.567000													68	194					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33238037	33238037	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33238037T>G	ENST00000445902.2	-	2	332	c.114A>C	c.(112-114)gaA>gaC	p.E38D	VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	38					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GTTGCAGTGGTTCCTGGAGCC	0.483000													33	109					0	0	1	0	0
IGKV3D-15	28875	broad.mit.edu	37	2	90154133	90154133	+	RNA	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:90154133A>T	ENST00000417279.2	+	0	269																											TGCATCCACCAGGGCCACTGG	0.562000													8	113					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73530259	73530259	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:73530259C>T	ENST00000418310.1	+	13	1730	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L	LIMK1_ENST00000538333.3_Missense_Mutation_p.P479L|LIMK1_ENST00000336180.2_Missense_Mutation_p.P513L			P53667	LIMK1_HUMAN	LIM domain kinase 1	513	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GTGGGCAACCCCTACTGGATG	0.627000													17	55					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435042	56435042	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56435042A>C	ENST00000584437.1	-	8	4050	c.2095T>G	c.(2095-2097)Ttg>Gtg	p.L699V	RNF43_ENST00000581868.1_Missense_Mutation_p.L572V|RNF43_ENST00000577716.1_Missense_Mutation_p.L699V|RNF43_ENST00000500597.2_Missense_Mutation_p.L658V|RNF43_ENST00000407977.2_Missense_Mutation_p.L699V|RNF43_ENST00000583753.1_Missense_Mutation_p.L658V|RNF43_ENST00000577625.1_Missense_Mutation_p.L572V|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	699	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCACAGATCAAGGGGTGTGCC	0.582000													40	108					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444293	20444293	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20444293C>T	ENST00000305051.5	+	1	691	c.616C>T	c.(616-618)Cct>Tct	p.P206S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGACCTTCCTCTAGTGAC	0.423000													81	59					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864057	189864057	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:189864057G>A	ENST00000304636.3	+	30	2239	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G690E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	690	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATTGGCAGGGGCCCCAGGA	0.478000													4	6					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129986368	129986368	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129986368C>T	ENST00000485477.1	+	2	1171	c.42C>T	c.(40-42)tcC>tcT	p.S14S	CPA5_ENST00000474905.1_Silent_p.S14S|CPA5_ENST00000466363.2_Silent_p.S14S|CPA5_ENST00000431780.2_Silent_p.S14S|CPA5_ENST00000355388.3_Silent_p.S14S|CPA5_ENST00000393213.3_Silent_p.S14S|CPA5_ENST00000461828.1_Silent_p.S14S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	14					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGGGCCATCCCCCGTGGACA	0.632000													69	85					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152823	8152823	+	Missense_Mutation	SNP	C	C	T	rs144478192		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8152823C>T	ENST00000600128.1	-	53	6919	c.6505G>A	c.(6505-6507)Gaa>Aaa	p.E2169K	FBN3_ENST00000270509.2_Missense_Mutation_p.E2169K|FBN3_ENST00000601739.1_Missense_Mutation_p.E2169K			Q75N90	FBN3_HUMAN	fibrillin 3	2169	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGAGCATTCGTCGATGTCT	0.667000													61	63					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581936	99581936	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:99581936A>C	ENST00000481138.1	-	6	1030	c.369T>G	c.(367-369)aaT>aaG	p.N123K	ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTATGTCTCGATTATGTGGTT	0.423000													5	30					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204380330	204380330	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:204380330G>A	ENST00000367188.4	-	1	589	c.210C>T	c.(208-210)ctC>ctT	p.L70L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	70					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCGGCGCAAGGAGCTGGGAGA	0.567000													68	64					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149868101	149868101	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:149868101G>A	ENST00000435030.1	+	25	3153	c.2785G>A	c.(2785-2787)Gga>Aga	p.G929R	KIF5C_ENST00000397413.1_Missense_Mutation_p.G697R|KIF5C_ENST00000414838.2_Missense_Mutation_p.G834R|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	929	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCCGCCCCGGACACTACCC	0.498000													14	25					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680062	33680062	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33680062G>A	ENST00000394566.1	-	7	2291	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	SLFN11_ENST00000308377.4_Silent_p.F673F	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	673						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTCAGTACGGAAATTCTGAG	0.448000													113	7					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24001300	24001300	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:24001300A>G	ENST00000312521.4	+	4	830	c.511A>G	c.(511-513)Aga>Gga	p.R171G	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	171					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TGGAATGTCAAGAGATGGTAT	0.398000													23	63					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156941527	156941527	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156941527A>C	ENST00000368194.3	-	8	1703	c.664T>G	c.(664-666)Tta>Gta	p.L222V	ARHGEF11_ENST00000361409.2_Intron	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	194					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCAGCTGTAACTGAGTGACT	0.577000													12	86					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635103	34635103	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:34635103T>C	ENST00000342101.3	+	8	879	c.715T>C	c.(715-717)Tca>Cca	p.S239P	IFNAR2_ENST00000382241.3_Silent_p.F282F|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S167P|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342136.4_Silent_p.F282F			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTAAGAATTTTCATAACTTTT	0.378000													17	52					0	0	1	0	0
FIBP	9158	broad.mit.edu	37	11	65651939	65651939	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65651939C>T	ENST00000338369.2	-	9	1061	c.949G>A	c.(949-951)Gac>Aac	p.D317N	FIBP_ENST00000357519.4_Missense_Mutation_p.D310N|FIBP_ENST00000533045.1_Missense_Mutation_p.R302Q	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	317					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GGCCAGTGGTCGGAGCGGCAG	0.587000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	24					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19474656	19474656	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19474656T>G	ENST00000396229.2	+	7	1952	c.1203T>G	c.(1201-1203)aaT>aaG	p.N401K	TMC5_ENST00000564959.1_Missense_Mutation_p.N84K|TMC5_ENST00000561503.1_Missense_Mutation_p.N42K|TMC5_ENST00000542583.2_Missense_Mutation_p.N401K|TMC5_ENST00000541464.1_Missense_Mutation_p.N401K|TMC5_ENST00000381414.4_Missense_Mutation_p.N401K|TMC5_ENST00000219821.5_Missense_Mutation_p.N155K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	401						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCAGCTCAATTGCTGTATTC	0.438000													20	60					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157814	48157814	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:48157814C>T	ENST00000418331.2	+	9	2191	c.1839C>T	c.(1837-1839)gtC>gtT	p.V613V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	613	Fibronectin type-III 6.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGACCACGTCTGGGGGGACC	0.522000													39	63					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7083621	7083621	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7083621G>A	ENST00000299481.4	+	10	3208	c.2862G>A	c.(2860-2862)ttG>ttA	p.L954L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	954			L -> S.		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGTTATTTTGAATAACCCAA	0.408000													49	42					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101666881	101666881	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:101666881G>A	ENST00000409318.1	-	5	984	c.854C>T	c.(853-855)cCg>cTg	p.P285L	TBC1D8_ENST00000376840.4_Missense_Mutation_p.P270L	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	270	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GATCTGGCTCGGCTCCTGCAG	0.557000													22	6					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121328193	121328193	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:121328193G>A	ENST00000297848.3	+	40	4886	c.4616G>A	c.(4615-4617)gGa>gAa	p.G1539E	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1539E|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1444E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1539	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTATCCCAGGAGGCGTTGGT	0.507000													21	20					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373626	7373626	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7373626C>T	ENST00000502583.1	-	5	1990	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	CAGE1_ENST00000338150.4_Missense_Mutation_p.E476K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E340K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E476K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E476K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	476										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GCCTCTTTTTCCCGTTTCAAC	0.398000													11	9					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243553	180243553	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180243553T>G	ENST00000263726.2	+	6	1256	c.1012T>G	c.(1012-1014)Ttg>Gtg	p.L338V	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	338						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGACAGTAATTTGGGCATCAT	0.577000													26	294					0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918448	32918448	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32918448G>A	ENST00000374843.4	-	2	306	c.221C>T	c.(220-222)tCc>tTc	p.S74F	HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.S74F	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	74						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						AGTGTTCTGGGAAAAGTCGAA	0.542000													42	39					0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130162257	130162257	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130162257C>T	ENST00000373371.3	+	4	587	c.498C>T	c.(496-498)gtC>gtT	p.V166V	SLC2A8_ENST00000373360.3_Silent_p.V166V|SLC2A8_ENST00000373352.1_5'UTR	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	166						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TAATGGTCGTCGTCGGCATCC	0.517000													18	54					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998479	29998479	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:29998479C>T	ENST00000308893.4	+	16	3929	c.2886C>T	c.(2884-2886)tcC>tcT	p.S962S	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.S789S|TAOK2_ENST00000543033.1_Silent_p.S849S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	962	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGGGGTCCTCCTCTGGCCTCC	0.697000													56	34					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29527482	29527482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:29527482G>T	ENST00000358273.4	+	9	1314	c.931G>T	c.(931-933)Gga>Tga	p.G311*	NF1_ENST00000356175.3_Nonsense_Mutation_p.G311*|NF1_ENST00000431387.4_Nonsense_Mutation_p.G311*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	311					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCTGGCCATGGAGGAAGTAG	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			46	7					4.0181e-32	4.05947e-32	1	1	0
IGF1R	3480	broad.mit.edu	37	15	99478277	99478277	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:99478277C>T	ENST00000268035.6	+	16	3792	c.3181C>T	c.(3181-3183)Cat>Tat	p.H1061Y	IGF1R_ENST00000558762.1_Missense_Mutation_p.H1060Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1061	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAATTGTCACCATGTGGTAAG	0.483000													11	23					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438613	114438613	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:114438613G>A	ENST00000369569.1	-	9	1838	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R352C|AP4B1_ENST00000256658.4_Missense_Mutation_p.R520C	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	520					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGGAGGCGATAATAGAAG	0.438000													34	30					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367900	37367900	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:37367900A>C	ENST00000361924.2	+	14	4897	c.4523A>C	c.(4522-4524)aAg>aCg	p.K1508T	GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1530T|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1508	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GACAAGAGCAAGATGGAGAAA	0.323000													21	33					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301493	140301493	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:140301493C>T	ENST00000275884.6	-	2	1122	c.705G>A	c.(703-705)agG>agA	p.R235R	DENND2A_ENST00000496613.1_Silent_p.R235R|DENND2A_ENST00000492720.1_Silent_p.R235R|DENND2A_ENST00000537639.1_Silent_p.R235R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	235										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ATGAACCTTTCCTGTCCTCCA	0.617000													91	80					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899472	94899472	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:94899472G>A	ENST00000357742.4	+	8	1112	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.G371E|MCTP2_ENST00000451018.3_Missense_Mutation_p.G371E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	371	C2 2.				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)			GTCTCAGGAGGAAGCATGACA	0.393000													23	52					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73501549	73501549	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:73501549G>A	ENST00000224721.6	+	37	4736	c.4731G>A	c.(4729-4731)aaG>aaA	p.K1577K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1572	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGGCAACAAGGACATGGCCT	0.617000													16	0					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627303	133627303	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133627303G>A	ENST00000519595.1	-	8	1053	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	LRRC6_ENST00000250173.1_Silent_p.L319L|LRRC6_ENST00000518642.1_Silent_p.L319L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	319	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCAAGGTCCAGGATGATCTGC	0.308000													27	24					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248405	14248405	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:14248405C>T	ENST00000360954.2	+	2	1051	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	205					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CCAGTTACTTCGTCACGCGGG	0.612000													65	2					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124326047	124326047	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124326047T>C	ENST00000409039.3	+	29	4986	c.4961T>C	c.(4960-4962)cTa>cCa	p.L1654P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTAATAGACTAATTACCAAA	0.443000													33	5					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48772229	48772229	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:48772229C>T	ENST00000314191.2	-	47	6203	c.6147G>A	c.(6145-6147)caG>caA	p.Q2049Q	PRKDC_ENST00000338368.3_Silent_p.Q2049Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2050					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATGAATAGCTCTGAACTCCGG	0.428000								Non-homologous end-joining					28	100					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014012	21014012	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21014012C>T	ENST00000247986.2	-	8	2117	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	KIF17_ENST00000400463.3_Missense_Mutation_p.E603K|KIF17_ENST00000375044.1_Missense_Mutation_p.E503K|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	603					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGGGGCACCTCCTGCGGCTCC	0.652000													65	31					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27398766	27398766	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:27398766A>C	ENST00000379214.4	-	12	1491	c.1048T>G	c.(1048-1050)Ttg>Gtg	p.L350V	LGR4_ENST00000389858.4_Missense_Mutation_p.L326V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	350						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTGTAAGACAAGTCCCTTAAA	0.333000													8	33					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25011013	25011013	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:25011013G>A	ENST00000400382.1	+	7	1056	c.301G>A	c.(301-303)Gct>Act	p.A101T	GGT1_ENST00000248923.4_Missense_Mutation_p.A101T|GGT1_ENST00000400380.1_Missense_Mutation_p.A101T|GGT1_ENST00000400383.1_Missense_Mutation_p.A101T|GGT1_ENST00000406383.2_Missense_Mutation_p.A101T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	101					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCTAGGAAAAGCTGAGGTCAT	0.632000													18	24					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586468	20586468	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20586468C>T	ENST00000315543.4	+	1	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TAGATAAGTTCCTTGCTGTGT	0.398000													4	19					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801935	39801935	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:39801935C>T	ENST00000564288.1	+	37	10452	c.9675C>T	c.(9673-9675)ctC>ctT	p.L3225L	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.L1665L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Silent_p.L3230L|MACF1_ENST00000567887.1_Silent_p.L3262L|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3230					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGGAACTCTCAAATCTGAAA	0.398000													50	31					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160826666	160826666	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160826666C>T	ENST00000283243.7	-	18	2859	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E885K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	885	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACCGAAATTCATCATTGGCT	0.308000													31	8					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70646763	70646763	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:70646763G>A	ENST00000322773.4	+	8	936	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	278					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGCCAGCAAAGCAGGAACTTA	0.443000													18	35					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110729535	110729535	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:110729535A>G	ENST00000368924.3	-	3	381		c.e3+1		DDO_ENST00000368923.3_Splice_Site|DDO_ENST00000368925.1_Splice_Site	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase						aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TTCTTCACTTACCCTGATACC	0.393000													8	28					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142488	18142488	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:18142488C>T	ENST00000278816.2	+	6	1357	c.707C>T	c.(706-708)cCc>cTc	p.P236L	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P108L|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.P236L|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.P235L			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	236					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ACTTTAGATCCCATCATTACT	0.413000													52	44					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592186	17592186	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17592186G>A	ENST00000375460.3	+	4	419	c.379G>A	c.(379-381)Gga>Aga	p.G127R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	127					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAACTGTGAGGGAAGGCAGGA	0.547000													58	64					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18308240	18308240	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18308240G>A	ENST00000396253.3	-	18	2855	c.2393C>T	c.(2392-2394)tCc>tTc	p.S798F	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.S798F|HPS5_ENST00000349215.3_Missense_Mutation_p.S912F|HPS5_ENST00000537258.1_Missense_Mutation_p.S19F	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	912						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGCAGAAGGGACTCAAGAAA	0.448000									Hermansky-Pudlak syndrome				6	35					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158317991	158317991	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:158317991G>A	ENST00000392185.3	+	5	604	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	145					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAACAACTGGGACACTGCCTT	0.632000													28	28					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778352	31778352	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31778352G>A	ENST00000375654.4	-	2	1587	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	HSPA1L_ENST00000417199.3_Silent_p.I466I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	466					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTGCTGGAGGGATTCCAGTCA	0.562000													50	46					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66625571	66625571	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:66625571A>C	ENST00000319194.5	+	17	3098	c.2837A>C	c.(2836-2838)aAg>aCg	p.K946T	DIS3L_ENST00000319212.4_Missense_Mutation_p.K1029T	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	1029					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCCAAACAAAGGGAAGGAGC	0.403000													29	46					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137929	72137929	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:72137929C>T	ENST00000555818.1	+	8	2697	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	SIPA1L1_ENST00000537413.1_Silent_p.F258F|SIPA1L1_ENST00000381232.3_Silent_p.F783F|SIPA1L1_ENST00000358550.2_Silent_p.F783F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	783	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGGGACTTCCTTTTGGCGA	0.498000													86	105					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712406	6712406	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6712406C>T	ENST00000245907.6	-	11	1223	c.1131G>A	c.(1129-1131)acG>acA	p.T377T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	377					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CATCAGGGTTCGTCACGAACA	0.647000													28	38					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117883	37117883	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:37117883C>T	ENST00000435416.1	+	3	2576	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	ZNF382_ENST00000292928.2_Missense_Mutation_p.R362C|ZNF382_ENST00000439428.1_Missense_Mutation_p.R361C|ZNF382_ENST00000423582.1_Missense_Mutation_p.R313C			Q96SR6	ZN382_HUMAN	zinc finger protein 382	362	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				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)			GAAGTCCTTCCGCCAGAAGGC	0.478000													15	65					0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57428449	57428449	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57428449T>C	ENST00000533682.1	+	3	1544	c.819T>C	c.(817-819)ttT>ttC	p.F273F	CLP1_ENST00000529430.1_Silent_p.F284F|CLP1_ENST00000525602.1_Silent_p.F273F|CLP1_ENST00000302731.4_Silent_p.F209F			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	273					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TCCCCCACTTTGTACGCACTG	0.527000													12	143					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14574746	14574746	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:14574746T>C	ENST00000242783.6	+	11	1767	c.1602T>C	c.(1600-1602)ccT>ccC	p.P534P	PKN1_ENST00000342216.4_Silent_p.P540P	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	534					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTTAGCCCTGGGGCTTCTC	0.667000													4	43					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748507	71748507	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:71748507G>A	ENST00000393524.2	-	1	925	c.192C>T	c.(190-192)ctC>ctT	p.L64L	PHLPP2_ENST00000567016.1_Silent_p.L99L|PHLPP2_ENST00000360429.3_Silent_p.L64L|PHLPP2_ENST00000568954.1_Silent_p.L64L|PHLPP2_ENST00000356272.3_Silent_p.L64L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	64						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCAAAGGACGAGATGTAAGT	0.493000													16	1					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	865681	865681	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:865681T>C	ENST00000323510.4	-	12	1252	c.1253A>G	c.(1252-1254)gAg>gGg	p.E418G	BRD9_ENST00000467963.1_Missense_Mutation_p.E514G|BRD9_ENST00000483173.1_Missense_Mutation_p.E461G|BRD9_ENST00000388890.4_Missense_Mutation_p.E398G			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	514							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGGGTCCAGCTCCTTCTTCAC	0.627000													34	231					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155640128	155640128	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:155640128G>A	ENST00000368340.5	-	7	1233	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	YY1AP1_ENST00000359205.5_Silent_p.F226F|YY1AP1_ENST00000368339.5_Silent_p.F375F|YY1AP1_ENST00000535662.1_Silent_p.F103F|YY1AP1_ENST00000438245.2_Intron|YY1AP1_ENST00000404643.1_Silent_p.F237F|YY1AP1_ENST00000405763.3_Silent_p.F375F|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Silent_p.F226F|YY1AP1_ENST00000295566.4_Silent_p.F303F|YY1AP1_ENST00000347088.5_Silent_p.F237F|YY1AP1_ENST00000361831.5_Silent_p.F226F|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Silent_p.F226F|YY1AP1_ENST00000355499.4_Silent_p.F237F|YY1AP1_ENST00000368330.2_Silent_p.F237F|YY1AP1_ENST00000476093.1_5'UTR	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CAGCCTTGGTGAAGAGGATCT	0.453000													37	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006660	9006660	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9006660C>T	ENST00000397910.4	-	44	39791	c.39588G>A	c.(39586-39588)gaG>gaA	p.E13196E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13198	SEA 8.				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						GCAGAACACTCTCCGTGATGT	0.522000													85	110					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819190	214819190	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:214819190T>G	ENST00000366955.3	+	13	6445	c.6277T>G	c.(6277-6279)Ttg>Gtg	p.L2093V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2189					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCAAGGCCTTGGAGGCCGC	0.478000													16	67					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220178622	220178622	+	Missense_Mutation	SNP	G	G	T	rs147887545		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:220178622G>T	ENST00000366923.3	-	16	2300	c.2031C>A	c.(2029-2031)ttC>ttA	p.F677L	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	677	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACATATGAAGAATCCTCTTC	0.333000													8	29					2.17888e-05	2.18264e-05	1	1	0
ROS1	6098	broad.mit.edu	37	6	117609735	117609735	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117609735C>T	ENST00000368508.3	-	43	7162	c.6964G>A	c.(6964-6966)Gct>Act	p.A2322T	ROS1_ENST00000368507.3_Missense_Mutation_p.A2316T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2322					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCAGTAAGCCACTTGTTTT	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								29	1					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508321	167508321	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167508321C>T	ENST00000295777.5	+	3	843	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SERPINI1_ENST00000446050.2_Missense_Mutation_p.H138Y	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	138					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGCAGTAAATCATGTGGACTT	0.363000													56	32					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532597	50532597	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50532597G>A	ENST00000374144.3	+	3	2295	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E	C10orf71_ENST00000323868.4_Silent_p.E669E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	669										endometrium(1)	1						ACCAGCTAGAGAATGGGCTCT	0.542000													9	2					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99941718	99941718	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:99941718G>A	ENST00000455616.1	-	13	1591	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	SYTL4_ENST00000276141.6_Silent_p.I415I|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000372989.1_Silent_p.I415I|SYTL4_ENST00000454200.2_Silent_p.I417I|SYTL4_ENST00000263033.5_Silent_p.I415I			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	415	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCCCGCTTGATGCTGGTTT	0.443000													18	0					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123044256	123044256	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:123044256G>A	ENST00000462833.1	-	8	3213	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ADCY5_ENST00000309879.5_Silent_p.I317I|ADCY5_ENST00000491190.1_Silent_p.I300I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	667					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGTTGTGCCCGATGGAGTTGG	0.582000													58	222					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714156	183714156	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:183714156C>T	ENST00000511685.1	+	26	6454	c.6331C>T	c.(6331-6333)Cgg>Tgg	p.R2111W	TENM3_ENST00000406950.2_Missense_Mutation_p.R2111W					teneurin transmembrane protein 3																		TAACATGGGTCGGGTAACCAA	0.408000													19	11					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695474	49695474	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49695474A>G	ENST00000296452.4	+	5	8599	c.8485A>G	c.(8485-8487)Acg>Gcg	p.T2829A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2829					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAAGCACTTCACGGCTGACAG	0.637000													4	83					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746015	156746015	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:156746015G>A	ENST00000470811.1	+	13	1915	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E498K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	90										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAAGAAATTGAAAATCTTAA	0.333000													48	0					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6293684	6293684	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6293684A>C	ENST00000343813.5	-	3	332	c.304T>G	c.(304-306)Ttg>Gtg	p.L102V		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	102					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TAGTGGAACAATGACAGGGAG	0.428000													17	77					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828314	52828314	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:52828314T>G	ENST00000371586.2	-	3	312	c.174A>C	c.(172-174)gaA>gaC	p.E58D	CC2D1B_ENST00000284376.3_Missense_Mutation_p.E58D|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	58										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TGGTTTGTGCTTCCCCTGTGA	0.587000													50	273					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100897173	100897173	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:100897173A>C	ENST00000343933.5	-	4	640	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CORO2A_ENST00000375077.4_Missense_Mutation_p.L128R	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	128					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTGGCCCACGAGTTCCTTCCT	0.602000													13	37					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43138585	43138585	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:43138585T>G	ENST00000342374.4	-	5	717	c.560A>C	c.(559-561)aAt>aCt	p.N187T	SERINC3_ENST00000255175.1_Missense_Mutation_p.N187T|SERINC3_ENST00000541235.1_Missense_Mutation_p.N132T	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	187						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CCATGATTCATTCCAAGAATG	0.453000													42	62					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30330851	30330851	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:30330851G>A	ENST00000361371.4	-	14	2754	c.2604C>T	c.(2602-2604)atC>atT	p.I868I	LTN1_ENST00000389194.2_Silent_p.I914I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	868							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCAGTTTACAGATAAGAAAAT	0.333000													23	19					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721218	63721218	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:63721218C>T	ENST00000421025.1	+	4	442	c.173C>T	c.(172-174)gCt>gTt	p.A58V	ZNF679_ENST00000255746.4_Missense_Mutation_p.A58V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACAGGTATTGCTGTCTCTAAG	0.333000													15	12					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333577	9333577	+	Splice_Site	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:9333577A>T	ENST00000261336.2	-	15	1868		c.e15+1		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTGGAAACTCACTGAGGACAC	0.542000													5	20					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943722	1943722	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:1943722C>T	ENST00000543818.1	+	5	1790	c.948C>T	c.(946-948)gtC>gtT	p.V316V	LRTM2_ENST00000535041.1_Silent_p.V316V|LRTM2_ENST00000299194.1_Silent_p.V316V|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	316						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TTGCAGGGGTCGTGTGCGGCG	0.662000													80	0					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819754	110819754	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:110819754C>T	ENST00000282356.4	+	11	1410	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.R338C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	338	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGCCTCTTCGCGCCTGGGAAG	0.567000													14	16					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725838	11725838	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:11725838C>T	ENST00000262442.3	+	47	9002	c.8934C>T	c.(8932-8934)atC>atT	p.I2978I	DNAH9_ENST00000454412.2_Silent_p.I2978I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2978	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	p.I2978I(1)		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)		GCACAGCCATCCACTGGTTCC	0.537000													153	9					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36364550	36364550	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36364550G>A	ENST00000221891.4	+	8	1183	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	APLP1_ENST00000586861.1_Missense_Mutation_p.E325K|APLP1_ENST00000537454.2_Missense_Mutation_p.E292K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	331	Heparin-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGATGCGTGAATGGGCCAT	0.562000													17	16					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915675	119915675	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:119915675C>T	ENST00000331113.4	+	1	1954	c.989C>T	c.(988-990)tCg>tTg	p.S330L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	330					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTGCTTTTCTCGCTCACCATG	0.507000													15	81					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642394	19642394	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:19642394G>A	ENST00000284885.3	-	25	2985	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	984	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACCAGCAAGGAACCACCTGT	0.443000													14	99					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207627817	207627817	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207627817C>T	ENST00000367057.3	+	1	243	c.54C>T	c.(52-54)gtC>gtT	p.V18V	CR2_ENST00000458541.2_Silent_p.V18V|CR2_ENST00000367058.3_Silent_p.V18V|CR2_ENST00000367059.3_Silent_p.V18V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	18					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACCGGGGGTCCTCGGTGAGC	0.711000													7	9					0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161089989	161089989	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:161089989T>C	ENST00000368008.1	+	6	743	c.684T>C	c.(682-684)gcT>gcC	p.A228A	NIT1_ENST00000368007.4_Silent_p.A213A|NIT1_ENST00000368009.2_Silent_p.A228A|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000392190.5_Silent_p.A192A	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	228	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATCCTTCAGCTTTTGGATCCA	0.493000													22	80					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33513541	33513541	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33513541A>C	ENST00000268876.5	+	20	2856	c.2759A>C	c.(2758-2760)aAg>aCg	p.K920T	UNC45B_ENST00000433649.1_Missense_Mutation_p.K918T|UNC45B_ENST00000394570.2_Missense_Mutation_p.K918T|UNC45B_ENST00000591048.1_Missense_Mutation_p.K839T|UNC45B_ENST00000378449.1_Missense_Mutation_p.K839T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	920					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGTCTCATCAAGTGCATGGAT	0.527000													3	35					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67912638	67912638	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67912638A>C	ENST00000358933.5	+	11	1423		c.e11-1		EDC4_ENST00000574770.1_Splice_Site	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGGCTCTCTAGCTTCTCCCC	0.557000													5	124					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345528	33345528	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:33345528G>A	ENST00000374796.2	-	8	3593	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	NCOA6_ENST00000359003.2_Silent_p.N341N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	341	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCCACCCTTGGTTTGCAGTCA	0.612000													37	43					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871007	2871007	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2871007A>C	ENST00000455114.1	+	5	702	c.596A>C	c.(595-597)aAc>aCc	p.N199T	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.N201T|PRSS21_ENST00000005995.3_Missense_Mutation_p.N201T	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	201	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ATCATAAACAACTCTATGTGC	0.552000													67	213					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16714165	16714165	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:16714165C>T	ENST00000433922.2	+	3	365	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000452975.2_Missense_Mutation_p.R63C|BZW2_ENST00000258761.3_Missense_Mutation_p.R63C	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	63					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGATTATCGTCGCTATGCAGA	0.423000													31	45					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141356240	141356240	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141356240C>T	ENST00000389484.3	-	43	8125	c.7154G>A	c.(7153-7155)gGa>gAa	p.G2385E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2385					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCAATTTTTCCTAGACTGCC	0.373000										TSP Lung(27;0.18)			13	17					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583245	82583245	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:82583245G>A	ENST00000423517.2	-	5	7361	c.7024C>T	c.(7024-7026)Cac>Tac	p.H2342Y	PCLO_ENST00000333891.8_Missense_Mutation_p.H2342Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2273	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGGTGGGTGATCAAACACG	0.423000													52	48					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352339	113352339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:113352339C>T	ENST00000458497.1	+	11	1915	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.R546*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.R468*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	546							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGATGCATTTCGAGTCTCCTT	0.488000													36	23					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25849203	25849203	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:25849203T>G	ENST00000399878.3	-	2	568	c.446A>C	c.(445-447)aAa>aCa	p.K149T	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Missense_Mutation_p.K114T|SEL1L3_ENST00000502949.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	149						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCTTGGAAATTTCACATGTAC	0.388000													12	15					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405539	94405539	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94405539C>T	ENST00000555019.1	-	8	1962	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	ASB2_ENST00000315988.4_Missense_Mutation_p.G463D	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	463					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGGGCCGTTGCCGTAGAGGCA	0.692000													8	18					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64331794	64331794	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64331794C>T	ENST00000301891.4	+	5	1210	c.836C>T	c.(835-837)tCc>tTc	p.S279F	SLC22A11_ENST00000377585.3_Missense_Mutation_p.S279F|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.S279F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	279					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGCCAGAATCCGCCCGGTGG	0.617000													19	32					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136418912	136418912	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136418912C>T	ENST00000264160.4	+	18	2366	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y	R3HDM1_ENST00000409478.1_Missense_Mutation_p.H538Y|R3HDM1_ENST00000409606.1_Missense_Mutation_p.H667Y|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H611Y|R3HDM1_ENST00000329971.3_Missense_Mutation_p.H537Y	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	666							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCCTTCTGTTCATTACAATTC	0.458000													17	57					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723486	58723486	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:58723486C>T	ENST00000300079.5	+	7	1038	c.988C>T	c.(988-990)Cta>Tta	p.L330L	GLYATL1_ENST00000317391.4_Silent_p.L299L|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	299						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCCACAGAATCTAGTTCCATT	0.423000													24	24					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33543169	33543169	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:33543169T>C	ENST00000374467.3	-	4	504	c.256A>G	c.(256-258)Aac>Gac	p.N86D	BAK1_ENST00000360661.5_Missense_Mutation_p.N86D|BAK1_ENST00000442998.2_Missense_Mutation_p.N86D	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	86					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TAGCGTCGGTTGATGTCGTCC	0.597000													32	38					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441772	140441772	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140441772A>G	ENST00000406427.1	-	3	518	c.182T>C	c.(181-183)cTt>cCt	p.L61P	PNPLA7_ENST00000277531.4_Missense_Mutation_p.L36P	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	36					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AAATTGTCTAAGCCTTCTGAA	0.592000													34	89					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63831840	63831840	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:63831840A>C	ENST00000233114.8	+	6	944	c.509A>C	c.(508-510)aAa>aCa	p.K170T	MDH1_ENST00000409476.1_Missense_Mutation_p.K46T|MDH1_ENST00000409908.1_Missense_Mutation_p.K5T|MDH1_ENST00000544381.1_Missense_Mutation_p.K81T|MDH1_ENST00000539945.1_Missense_Mutation_p.K188T|MDH1_ENST00000394423.1_Missense_Mutation_p.K170T	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	170					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	ATTGCTCTTAAACTTGGTGTG	0.353000													7	34					0	0	1	0	0
OOSP2	219990	broad.mit.edu	37	11	59807962	59807962	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:59807962T>G	ENST00000278855.2	+	1	215	c.30T>G	c.(28-30)gcT>gcG	p.A10A	PLAC1L_ENST00000532905.1_5'UTR	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		10						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGCTCCTCGCTGTCTTGATTT	0.473000													15	69					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308973	74308973	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74308973A>C	ENST00000446526.3	-	9	1422	c.977T>G	c.(976-978)aTt>aGt	p.I326S	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.I223S|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	297					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGACTCCTCAATCAGGCGAGG	0.483000													10	47					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597229	18597229	+	RNA	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:18597229A>G	ENST00000546162.2	+	0	969					NR_003569.1																						CTTGAAAAGGAGTGGATGAGG	0.557000													22	49					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32446929	32446929	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32446929A>C	ENST00000548411.1	+	3	609	c.426_splice	c.e3-1	p.N143_splice	BICD1_ENST00000281474.5_Splice_Site_p.N143_splice	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	143					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGTTTCAGAACAATGAGATG	0.368000													4	22					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701264	139701264	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:139701264A>T	ENST00000338005.6	+	12	1369	c.1334A>T	c.(1333-1335)gAg>gTg	p.E445V	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	445										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCGTACTGCGAGGGGAAGCTC	0.627000													9	17					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802005	54802005	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54802005A>C	ENST00000391745.1	-	10	1550	c.1234T>G	c.(1234-1236)Tac>Gac	p.Y412D	LILRA3_ENST00000251390.3_Missense_Mutation_p.Y395D|LILRA3_ENST00000391744.3_Missense_Mutation_p.Y331D					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGCACCTGTAGGTCCCCGCG	0.607000													8	172					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752528	247752528	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:247752528C>T	ENST00000320065.1	+	1	867	c.867C>T	c.(865-867)aaC>aaT	p.N289N	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCATGCTTAACCCTCTTATTT	0.408000													64	100					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68008685	68008685	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:68008685A>G	ENST00000329153.5	+	2	233	c.101A>G	c.(100-102)aAg>aGg	p.K34R		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	34						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGGCCAGCAAGATAAGGGAG	0.607000													4	10					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176178	159176178	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:159176178C>T	ENST00000537147.1	+	3	1792	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	DARC_ENST00000368122.2_Missense_Mutation_p.P317S|DARC_ENST00000368121.2_Missense_Mutation_p.P319S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	317					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CACCCTCTTGCCCTCTCTGCC	0.567000													229	213					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26998699	26998699	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:26998699T>G	ENST00000376215.5	+	5	520		c.e5+2		PDSS1_ENST00000376203.5_Splice_Site	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1						isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAACTCCCGGTGAGCTCTTTT	0.393000													16	75					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827847	1827847	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1827847T>G	ENST00000170168.4	-	2	1035	c.941A>C	c.(940-942)gAg>gCg	p.E314A	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	314						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTGATCTCAGGGTCGGC	0.682000													6	34					0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29139932	29139932	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:29139932T>G	ENST00000216027.3	+	2	364	c.299T>G	c.(298-300)cTt>cGt	p.L100R	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_Missense_Mutation_p.L100R	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	100	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CTGCAGCGTCTTGTCCACCCA	0.478000													9	183					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15270559	15270559	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:15270559A>C	ENST00000253693.2	+	8	1184	c.931A>C	c.(931-933)Att>Ctt	p.I311L		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	311	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TAAGAAGTTAATTACCGGGTA	0.343000													13	97					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729643	196729643	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196729643G>A	ENST00000312428.6	-	41	6836	c.6736C>T	c.(6736-6738)Cat>Tat	p.H2246Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2246					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAAGCTCATGAAAATCTTCA	0.398000													18	32					0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77791234	77791234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:77791234C>T	ENST00000216465.5	+	2	322	c.37C>T	c.(37-39)Cga>Tga	p.R13*	GSTZ1_ENST00000554279.1_Nonsense_Mutation_p.R13*|GSTZ1_ENST00000349555.3_Nonsense_Mutation_p.R13*|GSTZ1_ENST00000556627.1_Nonsense_Mutation_p.R13*|GSTZ1_ENST00000553586.1_Nonsense_Mutation_p.R14*|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000557639.1_Intron|GSTZ1_ENST00000557053.1_Intron	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	13	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TTCCTATTTCCGAAGCTCCTG	0.562000													34	36					0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212617725	212617725	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:212617725G>A	ENST00000366988.3	+	3	340	c.283G>A	c.(283-285)Gac>Aac	p.D95N	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	95	Cytochrome b5 heme-binding.					extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		GACGGGGAAGGACTCCACTAG	0.507000													33	24					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438107	124438107	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124438107G>A	ENST00000360013.3	+	60	8878	c.8751G>A	c.(8749-8751)gtG>gtA	p.V2917V	KALRN_ENST00000291478.4_Silent_p.V1220V|KALRN_ENST00000428018.2_Silent_p.V1188V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2916	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCATCAATGTGATCTTACAGG	0.512000													71	3					0	0	1	0	0
LYNX1	66004	broad.mit.edu	37	8	143846518	143846518	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:143846518G>A	ENST00000523332.1	-	4	281	c.218C>T	c.(217-219)tCg>tTg	p.S73L	LYNX1_ENST00000317543.7_Silent_p.F31F|RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000335822.5_Silent_p.F65F			Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	0	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCACCCTCCGAAGCCCGTGC	0.622000													12	8					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74995186	74995186	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74995186C>T	ENST00000261978.4	-	12	2754	c.2368_splice	c.e12+1	p.G790_splice	LTBP2_ENST00000556690.1_Splice_Site_p.G790_splice	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	790					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCTCAGATACCCTTGTCAGGG	0.632000													36	34					0	0	1	0	0
APOC3	345	broad.mit.edu	37	11	116703513	116703513	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116703513A>C	ENST00000375345.1	+	4	329	c.267A>C	c.(265-267)aaA>aaC	p.K89N	APOC3_ENST00000227667.3_Missense_Mutation_p.K71N			P02656	APOC3_HUMAN	apolipoprotein C-III	71	Lipid-binding.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTTCCCTGAAAGACTACTGGA	0.547000													61	4					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198641	170198641	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:170198641G>A	ENST00000231706.4	-	7	1745	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	477						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTGTTGGTGGCTGGGCCAGA	0.507000													79	168					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76782179	76782179	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:76782179A>C	ENST00000369963.3	-	1	216	c.27T>G	c.(25-27)atT>atG	p.I9M	IMPG1_ENST00000369950.3_Missense_Mutation_p.I9M			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	0					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAAAACAAAAATAGCTCTTC	0.299000													4	6					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100477310	100477310	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:100477310T>G	ENST00000273962.3	-	5	800	c.488A>C	c.(487-489)aAc>aCc	p.N163T	TRMT10A_ENST00000394876.2_Missense_Mutation_p.N163T|TRMT10A_ENST00000394877.3_Missense_Mutation_p.N163T	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		TACCTTCCAGTTGACCCATCC	0.318000													7	20					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68622908	68622908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:68622908G>A	ENST00000234313.7	+	9	1192	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	338	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CGCACAGAGTGGATCAGAGCC	0.547000													34	21					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255384	140255384	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140255384C>T	ENST00000398631.2	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	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)			TGGAGGTGATCGTGGACAGGC	0.537000													64	83					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179983099	179983099	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:179983099T>C	ENST00000367607.3	+	10	1929	c.1511T>C	c.(1510-1512)cTa>cCa	p.L504P		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	504						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATAAAGAAACTAGCTTCATCT	0.373000													6	42					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16250027	16250027	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:16250027C>T	ENST00000339732.5	+	4	1432	c.929C>T	c.(928-930)cCg>cTg	p.P310L	GALNT15_ENST00000437509.1_Missense_Mutation_p.P310L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GTGGTATCTCCGGTGATAGAT	0.502000													38	124					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9047305	9047305	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9047305T>C	ENST00000457346.2	-	21	2872	c.2798A>G	c.(2797-2799)aAg>aGg	p.K933R	SCUBE2_ENST00000520467.1_Missense_Mutation_p.K876R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.K904R|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K712R			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	904						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTCATTGGACTTGAACTGAAT	0.507000													7	136					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167293710	167293710	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167293710T>C	ENST00000308378.3	-	4	787	c.482A>G	c.(481-483)aAg>aGg	p.K161R	WDR49_ENST00000479765.1_Missense_Mutation_p.K502R|WDR49_ENST00000453925.2_Missense_Mutation_p.K214R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	161										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATTACCTGCTTCAAGATAGA	0.368000													12	176					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48246561	48246561	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48246561T>G	ENST00000543315.1	+	6	622	c.586T>G	c.(586-588)Ttg>Gtg	p.L196V	SGCA_ENST00000451235.2_Silent_p.S129S|SGCA_ENST00000262018.3_Silent_p.S231S|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Intron			Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	196			V -> I (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACTTCTGTCTTGCTACGACA	0.632000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	1	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518705	106518705	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106518705C>T	ENST00000390598.2	-	0	125																											CACTGGACACCTGCAAACAAA	0.522000													10	164					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298217	62298217	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62298217C>T	ENST00000378024.4	-	5	3946	c.3672G>A	c.(3670-3672)atG>atA	p.M1224I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1224					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCACTTTCATTTCACCTT	0.498000													110	377					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306622	54306622	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:54306622G>A	ENST00000545554.1	+	1	1522	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D508N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D508N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	508					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCAGATTATGATAAAATCTC	0.388000													25	1					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	772984	772984	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:772984C>T	ENST00000293889.6	-	13	1340	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	412										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCATCGTGGCCCGGACCAGCA	0.662000													16	37					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20000019	20000019	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:20000019C>T	ENST00000395529.3	+	2	107	c.55C>T	c.(55-57)Cca>Tca	p.P19S	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.P19S|SPECC1_ENST00000261503.5_Missense_Mutation_p.P19S	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	19						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGGCCACGGCCCAGACCGGGT	0.572000													135	7					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641513	156641513	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156641513T>G	ENST00000368223.3	-	4	2599	c.2467A>C	c.(2467-2469)Aca>Cca	p.T823P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	823	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGATCTCTGTTTCTAAAGAT	0.418000													12	46					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197304	81197304	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81197304G>A	ENST00000525539.1	-	0	3377				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGTGGCTTCGGGCTGGAAAGG	0.542000													3	0					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599299	29599299	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:29599299C>T	ENST00000431530.3	+	1	552	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	155						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGAAATTCCCCGGCATGTT	0.512000													50	38					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111901052	111901052	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:111901052A>G	ENST00000305815.5	-	21	2829	c.2577T>C	c.(2575-2577)ccT>ccC	p.P859P	SLC9C1_ENST00000487372.1_Silent_p.P811P	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	859					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CAACAGTAAGAGGCCTGATAA	0.308000													4	39					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015412	93015412	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:93015412G>A	ENST00000333334.2	+	1	529	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	C15orf32_ENST00000556865.1_Missense_Mutation_p.E12K	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	12										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGCTTCAAAGGAAGACTTGCA	0.522000													11	23					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803067	185803067	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185803067G>A	ENST00000302277.6	+	4	3538	c.2944G>A	c.(2944-2946)Gga>Aga	p.G982R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	982						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTTCCACAAGGAAAGATGAA	0.423000													30	51					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55249165	55249165	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:55249165C>T	ENST00000275493.2	+	20	2640	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Silent_p.I776I|EGFR_ENST00000454757.2_Silent_p.I768I|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	821	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGTGCAGATCGCAAAGGTAA	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	39					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167712	6167712	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:6167712G>A	ENST00000264870.3	-	13	2152	c.1887C>T	c.(1885-1887)acC>acT	p.T629T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	629					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTCAGGGATGGTTAGCACGG	0.507000													30	45					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206706	71206706	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:71206706G>A	ENST00000553414.1	-	6	1140	c.825C>T	c.(823-825)tcC>tcT	p.S275S	MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000554752.2_Intron|MAP3K9_ENST00000555993.2_Intron			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	563	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACAGAGCAGGGGACAGGTGCC	0.547000													26	33					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50945486	50945486	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50945486A>C	ENST00000357701.5	+	9	869	c.818A>C	c.(817-819)aAg>aCg	p.K273T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	273	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGAGGCAACAAGATCAAGTTG	0.527000													3	9					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746515	47746515	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:47746515G>A	ENST00000273857.4	-	5	702	c.703C>T	c.(703-705)Ccg>Tcg	p.P235S	CORIN_ENST00000504584.1_Missense_Mutation_p.P235S|CORIN_ENST00000508498.1_Missense_Mutation_p.P96S|CORIN_ENST00000502252.1_Missense_Mutation_p.P168S|CORIN_ENST00000505909.1_Missense_Mutation_p.P235S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	235	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGAAATCCGGCCAGGAGTAA	0.458000													48	109					0	0	1	0	0
TMOD4	29765	broad.mit.edu	37	1	151146966	151146966	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151146966C>T	ENST00000416280.2	-	3	280	c.181G>A	c.(181-183)Ggg>Agg	p.G61R				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	102					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCAGTGGCCCCGTTGGGCTC	0.547000													85	109					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95107730	95107730	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95107730G>A	ENST00000469935.1	+	0	335					NR_015340.1																						GGTTGACCAAGAAGCTTCTGA	0.582000													8	8					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124252199	124252199	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:124252199T>C	ENST00000409039.3	+	2	103	c.78T>C	c.(76-78)acT>acC	p.T26T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	26	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGAAGAGACTTATTCTCAAA	0.483000													3	12					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050155	39050155	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:39050155A>C	ENST00000295373.6	-	17	3397	c.3271T>G	c.(3271-3273)Ttg>Gtg	p.L1091V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1091							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTAAAAGCCAAACTGGCAGCA	0.463000													8	19					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299903	103299903	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:103299903C>T	ENST00000233969.2	+	4	1330	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	396						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCGTCTGCTTCACCCTGGCCT	0.502000													32	21					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53219636	53219636	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:53219636C>T	ENST00000394729.2	+	10	1233	c.905C>T	c.(904-906)tCa>tTa	p.S302L	PRKCD_ENST00000330452.3_Missense_Mutation_p.S302L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	302					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TCCCGGAGATCAGACTCAGCC	0.572000													66	40					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114860887	114860887	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:114860887A>C	ENST00000374270.3	-	10	1509	c.1337T>G	c.(1336-1338)tTt>tGt	p.F446C	SUSD1_ENST00000374263.3_Missense_Mutation_p.F446C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F446C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	446						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGAAGTTAAACGATGTTGC	0.428000													3	35					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49416509	49416509	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49416509A>G	ENST00000301067.7	-	51	16201	c.16202T>C	c.(16201-16203)cTg>cCg	p.L5401P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAGCGAGCCAGGTACACGTT	0.552000													7	245					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662817	49662817	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49662817G>A	ENST00000296452.4	+	2	747		c.e2+1			NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein						synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTCACCCAGGTAACCACTTC	0.562000													14	31					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131565067	131565067	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:131565067C>T	ENST00000306010.7	+	5	555	c.523C>T	c.(523-525)Ccg>Tcg	p.P175S		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	175										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CATCCTCATCCCGTGCCACAG	0.632000								Direct reversal of damage					12	2					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155255058	155255058	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:155255058C>T	ENST00000285718.7	+	0	1363				WASH6P_ENST00000461007.1_RNA																							ATGACACCTTCCCCCCCAGAC	0.637000													12	26					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18466971	18466971	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:18466971G>A	ENST00000433979.1	+	6	1226	c.1110G>A	c.(1108-1110)agG>agA	p.R370R	PIK3C2G_ENST00000538779.1_Silent_p.R370R|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Silent_p.R370R|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Silent_p.R370R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	370					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGAAAAGTAGGGAAGCTCCAG	0.378000													3	6					0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1430277	1430277	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1430277A>G	ENST00000336761.6	+	10	992	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	DAZAP1_ENST00000233078.4_Missense_Mutation_p.T263A	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	263	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCGTTCACCTCCTACAT	0.657000													6	21					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140674128	140674128	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140674128C>T	ENST00000460843.1	+	14	2261	c.2234C>T	c.(2233-2235)tCc>tTc	p.S745F	EHMT1_ENST00000462484.1_Missense_Mutation_p.S745F|EHMT1_ENST00000334856.6_Missense_Mutation_p.S714F|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	745					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGTACTTCTCCGCCAGGCAA	0.592000													18	37					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765586	77765586	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:77765586C>T	ENST00000521891.2	+	10	6877	c.6429C>T	c.(6427-6429)atC>atT	p.I2143I	ZFHX4_ENST00000455469.2_Silent_p.I2098I|ZFHX4_ENST00000518282.1_Silent_p.I2117I|ZFHX4_ENST00000050961.6_Silent_p.I2098I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2098						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAATCCTGAGGGCTT	0.423000										HNSCC(33;0.089)			10	25					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153407	133153407	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:133153407C>T	ENST00000388996.4	-	10	1854	c.1434G>A	c.(1432-1434)atG>atA	p.M478I	KCNQ3_ENST00000521134.1_Missense_Mutation_p.M358I|KCNQ3_ENST00000519445.1_Missense_Mutation_p.M478I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	478					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGTAGGCTTTCATGCGGAAGG	0.478000													46	59					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354138	40354138	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:40354138T>C	ENST00000221347.6	-	36	16216		c.e36-2			NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein							extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGCCATAACTGCAAGACACA	0.532000													14	46					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594365	195594365	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195594365T>C	ENST00000333602.6	-	12	3376	c.2759A>G	c.(2758-2760)aAg>aGg	p.K920R	TNK2_ENST00000428187.1_Missense_Mutation_p.K952R|TNK2_ENST00000381916.2_Missense_Mutation_p.K998R|TNK2_ENST00000392400.1_Missense_Mutation_p.K920R	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	920	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GAAGTTGGCCTTGGGGTCCAA	0.741000													6	37					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121240856	121240856	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121240856G>A	ENST00000264233.5	-	8	1377	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	417	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATACCTGCATGATGAAATGCT	0.338000								DNA polymerases (catalytic subunits)					74	0					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14482769	14482769	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:14482769C>T	ENST00000344204.4	+	46	6568	c.6544C>T	c.(6544-6546)Cgc>Tgc	p.R2182C	TRIO_ENST00000537187.1_Missense_Mutation_p.R2182C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2182	PH 2.				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)					ACTTCTGCCTCGCTGCAGAGA	0.483000													15	84					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38813686	38813686	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38813686C>T	ENST00000476049.1	-	5	618	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	KRT222_ENST00000394052.3_Missense_Mutation_p.E193K			Q8N1A0	KT222_HUMAN	keratin 222	193						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTACATTTTCATTCTCATAC	0.303000													15	2					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4936029G>A	ENST00000322013.3	-	1	893	c.865C>T	c.(865-867)Cct>Tct	p.P289S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000													20	32					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360274	74360274	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:74360274A>C	ENST00000377044.4	-	4	1233	c.694T>G	c.(694-696)Tta>Gta	p.L232V	TMEM2_ENST00000377066.5_Missense_Mutation_p.L232V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	232	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCCCCATGTAACTCCAGTGTC	0.488000													9	88					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162849796	162849796	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:162849796A>C	ENST00000360534.3	-	26	2858	c.2298T>G	c.(2296-2298)ccT>ccG	p.P766P		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	766					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TGAGGTGCTAAGGTAAAGAGA	0.343000													7	68					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183094850	183094850	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:183094850G>A	ENST00000435564.1	-	6	806	c.606C>T	c.(604-606)acC>acT	p.T202T	PDE1A_ENST00000456212.1_Silent_p.T202T|PDE1A_ENST00000536095.1_Silent_p.T98T|PDE1A_ENST00000409365.1_Silent_p.T186T|PDE1A_ENST00000331935.6_Silent_p.T202T|PDE1A_ENST00000351439.5_Silent_p.T186T|PDE1A_ENST00000358139.2_Silent_p.T202T|PDE1A_ENST00000410103.1_Silent_p.T202T|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Silent_p.T168T	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	202	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTTCTGCAAAGGTGATTAGGC	0.348000													24	8					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156616705	156616705	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156616705C>T	ENST00000329117.4	+	3	540	c.204C>T	c.(202-204)cgC>cgT	p.R68R	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.R68R	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	68	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCCGAGCCGCCGGGCTGTGC	0.731000													15	22					0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233546298	233546298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233546298C>T	ENST00000264059.3	+	4	1066	c.589C>T	c.(589-591)Caa>Taa	p.Q197*	EFHD1_ENST00000409613.1_Nonsense_Mutation_p.Q101*|EFHD1_ENST00000409708.1_Nonsense_Mutation_p.Q85*|EFHD1_ENST00000410095.1_Nonsense_Mutation_p.Q85*	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	197							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		TCTGCAGGTCCAAGCCTTGTC	0.567000													77	58					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423623	26423623	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26423623G>A	ENST00000335473.7	+	43	7933	c.7683G>A	c.(7681-7683)atG>atA	p.M2561I	MYO18B_ENST00000407587.2_Missense_Mutation_p.M2562I|MYO18B_ENST00000536101.1_Missense_Mutation_p.M2561I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2561						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGCATAATGAAGAAATACC	0.567000													3	17					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058063	140058063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140058063C>T	ENST00000371561.3	+	17	3483	c.2386C>T	c.(2386-2388)Cag>Tag	p.Q796*	GRIN1_ENST00000371546.4_Nonsense_Mutation_p.Q817*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.Q796*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.Q817*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.Q796*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.Q796*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.Q817*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.Q817*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.Q796*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	796					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTTCGGTATCAGGAATGTGA	0.607000													12	38					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108955409	108955409	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:108955409G>A	ENST00000505878.1	+	9	1126	c.853G>A	c.(853-855)Gat>Aat	p.D285N	HADH_ENST00000403312.1_Missense_Mutation_p.D357N|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000309522.3_Missense_Mutation_p.D281N|HADH_ENST00000603302.1_Missense_Mutation_p.D298N|HADH_ENST00000454409.2_Missense_Mutation_p.D285N			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	281					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GCATGAAATGGATGCAGAGAA	0.453000													35	83					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21009216	21009216	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:21009216A>C	ENST00000247986.2	-	11	2703	c.2393T>G	c.(2392-2394)cTt>cGt	p.L798R	KIF17_ENST00000400463.3_Missense_Mutation_p.L798R|KIF17_ENST00000375044.1_Missense_Mutation_p.L698R|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	798					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTAGACGTTAAGCAGCACCCA	0.627000													18	77					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056480	9056480	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9056480C>T	ENST00000397910.4	-	3	31169	c.30966G>A	c.(30964-30966)gaG>gaA	p.E10322E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10324	Ser-rich.|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						AAGGCAGGCTCTCTGCAATGG	0.527000													27	54					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786022	112786022	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:112786022T>G	ENST00000295408.4	+	19	2838	c.2581T>G	c.(2581-2583)Ttg>Gtg	p.L861V	MERTK_ENST00000409780.1_Missense_Mutation_p.L685V|MERTK_ENST00000421804.2_Missense_Mutation_p.L861V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	861					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTTAGAAAGTTTGCCTGACGT	0.498000													32	48					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72288508	72288508	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:72288508G>A	ENST00000334456.5	-	31	2991	c.2746C>T	c.(2746-2748)Ctg>Ttg	p.L916L	PDE2A_ENST00000544570.1_Silent_p.L909L|PDE2A_ENST00000540345.1_Silent_p.L907L|PDE2A_ENST00000376450.3_Silent_p.L660L|PDE2A_ENST00000444035.2_Silent_p.L907L|PDE2A_ENST00000418754.2_Silent_p.L801L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	916					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCCTCATCCAGGAAGTCCAGC	0.597000													14	59					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75884836	75884836	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:75884836C>T	ENST00000322507.8	-	13	2937	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	COL12A1_ENST00000483888.2_Silent_p.G876G|COL12A1_ENST00000416123.2_Silent_p.G876G|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	876	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CGTATTGTGTCCCTTCCTTCA	0.493000													117	10					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54407995	54407995	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54407995G>A	ENST00000263431.3	+	16	2045	c.1764_splice	c.e16+1	p.G588_splice	PRKCG_ENST00000540413.1_Splice_Site_p.G588_splice|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	588	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATCTGCAAGGGGGTGAGAGCC	0.562000													7	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997169	8997169	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8997169T>A	ENST00000397910.4	-	60	41230	c.41027A>T	c.(41026-41028)aAg>aTg	p.K13676M	MUC16_ENST00000380951.5_Missense_Mutation_p.K317M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13678	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGTGCTCTTGAACAGGGA	0.577000													24	63					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4189053	4189053	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:4189053C>T	ENST00000404826.2	+	30	4722	c.4583C>T	c.(4582-4584)tCc>tTc	p.S1528F	SDK1_ENST00000389531.3_Missense_Mutation_p.S1528F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1528	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGACCTACTCCTCGTCCATC	0.682000													11	9					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601683	7601683	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7601683A>C	ENST00000342415.5	+	5	580	c.521A>C	c.(520-522)aAa>aCa	p.K174T		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	174					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGACAAAGAAAAAGCGCTCT	0.398000													10	71					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38652320	38652320	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38652320G>A	ENST00000254051.6	-	2	516	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	120					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTCCCTGGGGGAAGCAGCTGG	0.577000													97	5					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894410	151894410	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:151894410G>A	ENST00000367290.5	+	6	965	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CCDC170_ENST00000239374.7_Silent_p.K292K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	292																	ATGCCTCAAAGCAGGAAGTGA	0.488000													18	15					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45534562	45534562	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45534562A>C	ENST00000291576.7	+	5	510	c.383A>C	c.(382-384)aAg>aCg	p.K128T		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	128						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CCTGGGAAGAAGCGGGAGTTC	0.512000													13	72					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754338	32754338	+	Missense_Mutation	SNP	C	C	T	rs138674931		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:32754338C>T	ENST00000249007.4	+	1	485	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	RFPL3_ENST00000382088.3_Missense_Mutation_p.R65W|RFPL3_ENST00000397468.1_Missense_Mutation_p.R65W	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	94							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CAGGCCCAATCGGCAGCTAGA	0.517000													51	54					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867873	207867873	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207867873A>G	ENST00000508064.2	+	5	699	c.639A>G	c.(637-639)caA>caG	p.Q213Q	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	213	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGATGATCAAGTGGGCATCT	0.483000													7	256					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3009615	3009615	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3009615G>A	ENST00000262953.6	-	13	1360	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	TLE2_ENST00000443826.3_Silent_p.S244S|TLE2_ENST00000426948.2_Silent_p.S380S|TLE2_ENST00000591529.1_Silent_p.S380S|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000590536.1_Silent_p.S367S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.S244S	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	366	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGGCACGGAGAGGTCTC	0.657000													18	14					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130883684	130883684	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:130883684G>A	ENST00000261655.4	-	19	3318	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1052						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCTGATTAAGGTGTGAAATG	0.348000													44	1					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42561953	42561953	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:42561953T>G	ENST00000372899.1	+	4	700	c.442T>G	c.(442-444)Ttc>Gtc	p.F148V	UBR2_ENST00000372901.1_Missense_Mutation_p.F148V|UBR2_ENST00000372903.2_Missense_Mutation_p.F148V	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	148					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGTGGAGGTTTCTGTGACTG	0.353000													4	90					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004861	41004861	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:41004861T>G	ENST00000308423.2	+	1	1661	c.1501T>G	c.(1501-1503)Ttt>Gtt	p.F501V		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	501					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGCATTCCTCTTTGGTGCTAC	0.552000													7	54					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073623	9073623	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9073623G>A	ENST00000397910.4	-	3	14026	c.13823C>T	c.(13822-13824)aCc>aTc	p.T4608I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4610	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						CTCCTGGAGGGTGCTGTTCTC	0.488000													30	23					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481173	142481173	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142481173G>A	ENST00000603901.1	+	0	247					NR_001296.3																						AGTCCTGGAGGGGAATGAGCA	0.517000													31	31					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064658	64064658	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64064658G>A	ENST00000538767.1	+	3	434	c.182G>A	c.(181-183)gGa>gAa	p.G61E	KCNK4_ENST00000394525.2_Silent_p.G127G|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Silent_p.G127G|KCNK4_ENST00000539216.1_Silent_p.G127G			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCTGGTGGGGATTCCGCTGT	0.622000													45	44					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2428310	2428310	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:2428310C>T	ENST00000449969.1	+	15	2057	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Silent_p.A659A|PLCH2_ENST00000378486.3_Silent_p.A659A|PLCH2_ENST00000419816.2_Silent_p.A659A|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	659	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGACCAAGGCCCACCAGATTC	0.657000													42	52					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365327	35365327	+	Silent	SNP	G	G	A	rs147456536		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:35365327G>A	ENST00000373347.1	-	5	1597	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	DLGAP3_ENST00000235180.4_Silent_p.P443P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	443					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGGATCCGGGGTGGGACAC	0.597000													76	76					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48229100	48229100	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48229100C>T	ENST00000263277.3	+	4	785	c.534C>T	c.(532-534)ttC>ttT	p.F178F	EHD2_ENST00000538399.1_Silent_p.F42F|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	178					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGCGCTGGTTCGCGGAGCGCG	0.637000													15	30					0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89885752	89885752	+	RNA	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89885752T>G	ENST00000513638.1	+	0	292					NR_003133.2																						CCTTGCAGGCTTCTCTCTGGG	0.498000													5	64					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152472610	152472610	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152472610A>C	ENST00000397345.3	-	76	11397	c.11195T>G	c.(11194-11196)cTt>cGt	p.L3732R	NEB_ENST00000603639.1_Missense_Mutation_p.L3732R|NEB_ENST00000172853.10_Missense_Mutation_p.L3489R|NEB_ENST00000604864.1_Missense_Mutation_p.L3732R|NEB_ENST00000427231.2_Missense_Mutation_p.L3732R|NEB_ENST00000409198.1_Missense_Mutation_p.L3489R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3732					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCAAAGCAAGTTTATAGAG	0.373000													5	16					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131228	45131228	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:45131228A>G	ENST00000457685.2	-	6	1959	c.636T>C	c.(634-636)tcT>tcC	p.S212S	ZNF334_ENST00000593880.1_Silent_p.S273S|ZNF334_ENST00000347606.4_Silent_p.S250S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAATGAGGGTAGATCTCTTAG	0.403000													28	57					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55602016	55602016	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:55602016T>A	ENST00000436346.1	-	4	1118	c.277A>T	c.(277-279)Act>Tct	p.T93S	CCDC88A_ENST00000336838.6_Missense_Mutation_p.T93S|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T93S|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T93S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	93					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTGCAAAGTCTCCTGTAAA	0.318000													7	54					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562821	21562821	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:21562821G>A	ENST00000382592.4	-	4	1503	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	LATS2_ENST00000542899.1_Silent_p.S366S	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	366					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACTGCTGGACGGAGGTGCTGC	0.721000													17	36					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792901	131792901	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:131792901T>C	ENST00000286355.5	-	18	5583	c.3491A>G	c.(3490-3492)aAa>aGa	p.K1164R	ADCY8_ENST00000377928.3_Missense_Mutation_p.K1033R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1164					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGTTTTGATTTTTCCTTCCTG	0.517000										HNSCC(32;0.087)			5	93					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577756	42577756	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:42577756G>A	ENST00000433647.1	+	14	1858	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	VIPR1_ENST00000543411.1_Missense_Mutation_p.E405K|VIPR1_ENST00000325123.4_Missense_Mutation_p.E453K|VIPR1_ENST00000438259.2_Missense_Mutation_p.E243K	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	453					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTTCCAAGCCGAAGTCTCCCT	0.721000													7	4					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318792	21318792	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21318792C>T	ENST00000583088.1	+	3	1033	c.138C>T	c.(136-138)ttC>ttT	p.F46F	KCNJ12_ENST00000331718.5_Silent_p.F46F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GCAACCGCTTCGTCAAGAAGA	0.607000										Prostate(3;0.18)			19	29					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035236	184035236	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:184035236C>T	ENST00000342981.4	+	4	689	c.275C>T	c.(274-276)tCc>tTc	p.S92F	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S52F|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S52F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S99F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S5F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S5F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S92F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S99F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S99F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S92F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	92					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGATCCCTTCCCAGATCTCC	0.632000													32	186					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62375207	62375207	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62375207G>A	ENST00000394773.2	-	11	1600	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	EML3_ENST00000278845.4_Silent_p.F432F|EML3_ENST00000531557.1_Silent_p.F214F|EML3_ENST00000529309.1_Silent_p.F431F|EML3_ENST00000438258.1_Intron|EML3_ENST00000494176.2_Silent_p.F403F	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	431						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAATTCCAGAAGTGGACGT	0.547000													34	55					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188450	152188450	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152188450A>G	ENST00000368801.2	-	3	5730	c.5655T>C	c.(5653-5655)acT>acC	p.T1885T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1885					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCATGCTGAGTGTAACCAG	0.547000													12	1446					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360756	107360756	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107360756T>G	ENST00000374779.2	-	1	1032	c.939A>C	c.(937-939)agA>agC	p.R313S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TAAAATTTTTTCTTCTCAGTA	0.333000													7	21					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14552685	14552685	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:14552685C>T	ENST00000273083.3	-	0	1985							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGTTGTCCTCGTCCTTCCGG	0.607000													11	17					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33565814	33565814	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:33565814C>G	ENST00000321505.4	+	1	1994	c.1814C>G	c.(1813-1815)tCg>tGg	p.S605W	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S605W|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S605W					KIAA1549-like																		TCTTCTATATCGACCAGTGTC	0.483000													61	73					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573933	154573933	+	Silent	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154573933G>C	ENST00000368474.4	-	2	1384	c.1185C>G	c.(1183-1185)ccC>ccG	p.P395P	ADAR_ENST00000368471.3_Silent_p.P100P|ADAR_ENST00000292205.5_Silent_p.P438P	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	395					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CATTTGATGTGGGTATATTAC	0.448000													109	109					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959408	75959408	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:75959408T>C	ENST00000307630.3	-	2	452	c.230A>G	c.(229-231)aAg>aGg	p.K77R		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	77					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTCAATCTTCTTCTCATTGCC	0.537000													6	207					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797042	33797042	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:33797042G>A	ENST00000257118.5	-	11	1963	c.1910C>T	c.(1909-1911)cCc>cTc	p.P637L	PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.P638L|PHC2_ENST00000373416.1_Missense_Mutation_p.P102L|PHC2_ENST00000373422.3_Missense_Mutation_p.P243L|PHC2_ENST00000373418.3_Missense_Mutation_p.P102L|PHC2_ENST00000431992.1_Missense_Mutation_p.P608L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	637					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGTTTGAGGGGAGCACCCTC	0.537000													12	144					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175431	117175431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117175431C>T	ENST00000003084.6	+	6	841	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q237*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	237	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCCTTTTTCAGGCTGGGCT	0.433000									Cystic Fibrosis				41	51					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860379	96860379	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:96860379A>G	ENST00000375360.3	+	7	1709	c.1369A>G	c.(1369-1371)Agt>Ggt	p.S457G	PTPDC1_ENST00000288976.3_Missense_Mutation_p.S509G	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	457							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCTTTCTGGAGTCAGTCAAA	0.483000													8	33					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806606	33806606	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:33806606A>C	ENST00000260908.7	-	2	740	c.623T>G	c.(622-624)cTt>cGt	p.L208R	SLFN12L_ENST00000361112.4_Missense_Mutation_p.L237R|SLFN12L_ENST00000449046.1_Missense_Mutation_p.L239R	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	240						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTTATAACCAAGTTCTGTTCT	0.358000													10	17					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10544628	10544628	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10544628A>T	ENST00000583535.1	-	18	2108	c.2021T>A	c.(2020-2022)aTa>aAa	p.I674K	MYH3_ENST00000226209.7_Missense_Mutation_p.I674K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	674	Actin-binding.|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						ATTGGGAATTATACAACGCAC	0.398000													185	7					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896630	205896630	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:205896630C>T	ENST00000367135.3	-	10	1318	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E	SLC26A9_ENST00000367134.2_Missense_Mutation_p.G402E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.G402E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	402						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTGGGATTTTCCTCCAGCTCC	0.527000													15	25					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282747	77282747	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77282747G>A	ENST00000376896.2	+	8	1653	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	RORB_ENST00000396204.2_Silent_p.K358K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	358	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTTTGCAAAGAATTTGTGTT	0.398000													21	52					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373255	5373255	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5373255C>T	ENST00000380219.1	+	1	518	c.518C>T	c.(517-519)tCc>tTc	p.S173F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTACTCTCCCATGCTTTC	0.463000													14	34					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891406	6891406	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:6891406C>T	ENST00000307322.4	+	1	483	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCAGGCTTTCCTGTAGCTAC	0.542000													85	73					0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	65008883	65008883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:65008883G>A	ENST00000381007.4	-	3	344	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	37							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TCCAAGCACTGAATTGCAACT	0.313000													14	24					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890970	2890970	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2890970A>T	ENST00000254528.3	+	4	1004	c.845A>T	c.(844-846)gAg>gTg	p.E282V		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	282					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGCTGGAAGAGCTGGATGGA	0.493000													14	92					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029226	17029226	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:17029226G>A	ENST00000492551.1	-	0	1139					NR_026567.1																						TCTCCACGTGGCGGAGTTTGT	0.622000													6	87					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77244476	77244476	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:77244476C>T	ENST00000388914.3	-	23	3396	c.3244G>A	c.(3244-3246)Gat>Aat	p.D1082N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1082										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGCTGTAAATCTTCTACCAGA	0.403000													64	39					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111693353	111693353	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:111693353G>A	ENST00000431670.2	+	18	4116	c.3705G>A	c.(3703-3705)cgG>cgA	p.R1235R	PHLDB2_ENST00000481953.1_Silent_p.R1192R|PHLDB2_ENST00000495180.1_Silent_p.R726R|PHLDB2_ENST00000393925.3_Silent_p.R1235R|PHLDB2_ENST00000412622.1_Silent_p.R1192R|PHLDB2_ENST00000393923.3_Silent_p.R1219R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1235	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGCCATGCGGATCTGGATGG	0.453000													64	7					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113298	161113298	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161113298G>A	ENST00000523217.1	+	2	343	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.R34Q	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	34					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACGTCAGTCGGATCCTGGAC	0.483000										TCGA Ovarian(5;0.080)			27	23					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085186	87085186	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:87085186T>G	ENST00000390655.6	-	2	455	c.397A>C	c.(397-399)Agt>Cgt	p.S133R	CD8B_ENST00000393759.2_Missense_Mutation_p.S133R|CD8B_ENST00000331469.2_Missense_Mutation_p.S133R|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Missense_Mutation_p.S133R|CD8B_ENST00000393761.2_Missense_Mutation_p.S133R	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	133					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TTACCCACACTCAGCTGAGTT	0.572000													7	135					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784392	8784392	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:8784392T>G	ENST00000359865.3	+	6	1424	c.1282T>G	c.(1282-1284)Ttc>Gtc	p.F428V	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Missense_Mutation_p.F788V|SOGA2_ENST00000517570.1_Missense_Mutation_p.F428V|SOGA2_ENST00000400050.3_Missense_Mutation_p.F428V	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	779																	GACGTCGGGCTTCGGGAGCGG	0.647000													32	166					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137671947	137671947	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:137671947G>A	ENST00000371817.3	+	28	2799		c.e28-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CACCCGCACAGGGGGCCGATG	0.577000													63	36					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48547310	48547310	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:48547310T>C	ENST00000536549.1	-	2	137		c.e2-2		ASB8_ENST00000539528.1_Splice_Site|ASB8_ENST00000317697.3_5'UTR|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000535988.1_5'UTR|ASB8_ENST00000540782.1_Splice_Site|ASB8_ENST00000536071.1_5'UTR|ASB8_ENST00000535055.1_Splice_Site|ASB8_ENST00000536953.1_5'UTR			Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8						intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TGCTCCAAACTGCCTGAAACA	0.438000													9	63					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703208	1703208	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1703208T>C	ENST00000305513.7	-	5	1647	c.1480A>G	c.(1480-1482)Aga>Gga	p.R494G		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	494	SET.						zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AACATGTGTCTCAGCATCGCC	0.488000													4	49					0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22355618	22355618	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:22355618A>G	ENST00000240139.5	+	4	804	c.477A>G	c.(475-477)aaA>aaG	p.K159K	PPP3CC_ENST00000518852.1_Silent_p.K159K|PPP3CC_ENST00000397775.3_Silent_p.K159K|PPP3CC_ENST00000289963.8_Silent_p.K159K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	159					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TCACCTTCAAACAGGAATGTA	0.333000													9	45					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229654083	229654083	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:229654083A>C	ENST00000344517.4	-	13	2102	c.2060T>G	c.(2059-2061)gTt>gGt	p.V687G	ABCB10_ENST00000498158.1_5'UTR	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	687	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGGGCAATAACTAACACCGT	0.428000													21	37					0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983848	142983848	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142983848C>T	ENST00000359333.3	+	3	1090	c.577C>T	c.(577-579)Cct>Tct	p.P193S	TMEM139_ENST00000409541.1_Missense_Mutation_p.P193S|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000410004.1_Missense_Mutation_p.P193S|TMEM139_ENST00000409102.1_Missense_Mutation_p.P193S|TMEM139_ENST00000409244.1_Missense_Mutation_p.P193S	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	193						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					GACTCCACCCCCTGCCTATGA	0.532000													48	65					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109374986	109374986	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:109374986C>T	ENST00000283195.6	+	18	2710	c.2584C>T	c.(2584-2586)Cat>Tat	p.H862Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	862					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACAGACATTTCATGGGGCTCC	0.438000													62	135					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52863157	52863157	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52863157C>T	ENST00000266041.4	-	2	325	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	ITIH4_ENST00000485816.1_Missense_Mutation_p.A77T|ITIH4_ENST00000406595.1_Missense_Mutation_p.A77T|ITIH4_ENST00000346281.5_Missense_Mutation_p.A77T|ITIH4_ENST00000434759.3_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	77	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTGATGAAGGCTTTCTTGGGC	0.587000													17	15					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958188	153958188	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:153958188C>T	ENST00000356448.4	+	12	2404	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S707F|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	707	PH.			S -> T (in Ref. 5; AAH78655).	regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AATGATTATTCCTTAAGAGAT	0.393000													5	27					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164760925	164760925	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164760925T>G	ENST00000264382.3	-	17	1988	c.1926A>C	c.(1924-1926)acA>acC	p.T642T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	642	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAGTTCTTCTGTGGTTTCAG	0.363000										HNSCC(35;0.089)			10	69					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793949	38793949	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38793949G>A	ENST00000449082.2	-	11	1515	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	506					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACCGGAAATGGAACACACTG	0.567000													25	7					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57132702	57132702	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57132702C>T	ENST00000328070.6	+	3	281	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	16						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GACAAGCTCTCCGTTGTTGGG	0.532000													27	71					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300760	158300760	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158300760C>T	ENST00000368168.3	-	2	261	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	52					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATCTGCAAATCATCCAACCAG	0.493000													154	167					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31328379	31328379	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:31328379A>C	ENST00000215862.4	-	25	3985	c.2622T>G	c.(2620-2622)gcT>gcG	p.A874A	MORC2_ENST00000397641.2_Silent_p.A936A|MORC2-AS1_ENST00000441558.1_RNA	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	936							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTGAATTCATAGCACTCAGCT	0.483000													12	140					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997747	28997747	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28997747C>T	ENST00000395456.2	+	5	612	c.290C>T	c.(289-291)tCc>tTc	p.S97F	LAT_ENST00000354453.4_Intron|LAT_ENST00000564277.1_Missense_Mutation_p.S96F|LAT_ENST00000454369.2_Missense_Mutation_p.S96F|LAT_ENST00000563964.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_Missense_Mutation_p.S133F|LAT_ENST00000360872.5_Missense_Mutation_p.S97F|LAT_ENST00000566177.1_Missense_Mutation_p.S96F	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	97					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				ACGCCATCTTCCCGGCGGGAT	0.642000													47	29					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180794456	180794456	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180794456C>T	ENST00000367590.4	+	9	1308	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	XPR1_ENST00000367589.3_Silent_p.S370S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	370						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACTATAAATCCCGGTTTTGGC	0.398000													15	63					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242766	7242766	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7242766C>T	ENST00000542285.1	-	3	456	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K				P00736	C1R_HUMAN	complement component 1, r subcomponent	104	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GACATAAATTCCTTCTTTCCC	0.537000													6	6					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761409	55761409	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55761409C>T	ENST00000278409.1	-	1	692	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GCCTCCCCTCCCCCGAATGCA	0.478000													35	23					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344938	20344938	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20344938C>T	ENST00000298642.2	+	1	548	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGTGGTCCCTATGAGGTA	0.483000													111	201					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789358	76789358	+	Missense_Mutation	SNP	A	A	C	rs148492740		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:76789358A>C	ENST00000287239.4	+	18	5265	c.4776A>C	c.(4774-4776)caA>caC	p.Q1592H	KAT6B_ENST00000372711.1_Missense_Mutation_p.Q1409H|KAT6B_ENST00000372725.1_Missense_Mutation_p.Q1300H|KAT6B_ENST00000372714.1_Missense_Mutation_p.Q1300H|KAT6B_ENST00000372724.1_Missense_Mutation_p.Q1300H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1592	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACGATTGCCAACAGTCGGACC	0.552000													44	2					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928204	6928204	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6928204A>C	ENST00000312053.4	+	17	2308	c.2271A>C	c.(2269-2271)ccA>ccC	p.P757P	EMR1_ENST00000381404.4_Silent_p.P705P|EMR1_ENST00000450315.3_Silent_p.P580P|EMR1_ENST00000250572.8_Silent_p.P692P|EMR1_ENST00000381407.5_Silent_p.P616P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	757					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTGGGGCCAGTTTGCACAG	0.502000													45	127					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994844	11994844	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:11994844T>C	ENST00000333796.3	-	1	1742	c.1426A>G	c.(1426-1428)Aaa>Gaa	p.K476E	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	476					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGATGGTTTTTCATCCCACAC	0.493000													13	98					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74235009	74235009	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:74235009C>T	ENST00000398761.4	-	10	920	c.788G>A	c.(787-789)aGa>aAa	p.R263K	MICU1_ENST00000361114.5_Missense_Mutation_p.R261K|MICU1_ENST00000418483.2_Missense_Mutation_p.R63K|MICU1_ENST00000398763.4_Missense_Mutation_p.R63K|MICU1_ENST00000401998.3_Missense_Mutation_p.R261K			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	261					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										TGGACGATCTCTGTGGCGCAT	0.443000													6	0					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905576	54905576	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:54905576G>A	ENST00000474759.1	+	18	1685	c.1637G>A	c.(1636-1638)gGa>gAa	p.G546E	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G546E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G452E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G546E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	546	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACGAAGAAGGAAAAAAGCGA	0.448000													19	46					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181725195	181725195	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181725195C>T	ENST00000526775.1	+	28	4201	c.4036C>T	c.(4036-4038)Ctc>Ttc	p.L1346F	CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1346F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1297F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L972F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1365F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1316F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1365F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1365					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCTGACCCTCTTCACCGT	0.517000													18	19					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37323613	37323613	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:37323613T>G	ENST00000361924.2	+	3	701	c.327T>G	c.(325-327)agT>agG	p.S109R	GOLGA4_ENST00000356847.4_Missense_Mutation_p.S131R|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Missense_Mutation_p.S109R	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	109					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACCTGGACAGTTCTACTGCCA	0.448000													17	61					0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607000													30	100					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998325	29998325	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:29998325T>G	ENST00000308893.4	+	16	3775	c.2732T>G	c.(2731-2733)aTt>aGt	p.I911S	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.I738S|TAOK2_ENST00000543033.1_Missense_Mutation_p.I798S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	911					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGGCTCCGATTGGGACCCCT	0.627000													20	87					0	0	1	0	0
DYNLL2	140735	broad.mit.edu	37	17	56166550	56166550	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:56166550A>C	ENST00000240343.6	+	3	458	c.180A>C	c.(178-180)cgA>cgC	p.R60R		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	60					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity			lung(3)	3						TCGTGGGCCGAAATTTTGGCA	0.433000													14	64					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109932	42109932	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42109932C>T	ENST00000457542.2	+	16	2189	c.1904_splice	c.e16+1	p.R635_splice	MAPKBP1_ENST00000260357.7_Splice_Site_p.R474_splice|MAPKBP1_ENST00000221214.6_Splice_Site_p.R518_splice|MAPKBP1_ENST00000456763.2_Splice_Site_p.R641_splice|MAPKBP1_ENST00000514566.1_Splice_Site_p.R635_splice	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	641										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCGAAATATTCGGTGGGCGTC	0.577000													9	0					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31937788	31937788	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31937788A>C	ENST00000375349.3	-	7	1468	c.1057T>G	c.(1057-1059)Ttc>Gtc	p.F353V	DOM3Z_ENST00000337523.5_Missense_Mutation_p.F353V|DOM3Z_ENST00000375356.3_Missense_Mutation_p.F353V|DOM3Z_ENST00000478221.1_5'UTR			O77932	DOM3Z_HUMAN		353							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCCCAAGAGAAGAGATGAACG	0.587000													11	63					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274869	29274869	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:29274869G>A	ENST00000377160.2	+	1	467	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GACTATTATGGATCCCCGTGC	0.502000													38	50					0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153061897	153061897	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153061897T>C	ENST00000320857.3	+	3	1160	c.76T>C	c.(76-78)Tgc>Cgc	p.C26R	SSR4_ENST00000370086.3_Missense_Mutation_p.C26R|SSR4_ENST00000370085.3_Missense_Mutation_p.C26R|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370087.1_Missense_Mutation_p.C26R	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	26					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGAGGCCTGCCTGGAGCC	0.597000													27	40					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201827587	201827587	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:201827587G>A	ENST00000361565.4	+	12	1303	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	412					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGTGGCCACAGATTTCCAGAA	0.443000													25	168					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032769	16032769	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:16032769G>A	ENST00000350896.3	-	3	341	c.144C>T	c.(142-144)tcC>tcT	p.S48S	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Silent_p.S48S|MSR1_ENST00000445506.2_Silent_p.S66S|MSR1_ENST00000355282.2_Silent_p.S48S|MSR1_ENST00000381998.4_Silent_p.S48S	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	48					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAGCTTTGAAGGACTTCAGTT	0.403000													18	50					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70710437	70710437	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:70710437A>T	ENST00000370950.3	+	9	953	c.871A>T	c.(871-873)Agg>Tgg	p.R291W	SRSF11_ENST00000370949.1_Missense_Mutation_p.R231W|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.R291W|SRSF11_ENST00000405432.1_Missense_Mutation_p.R291W			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	291	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CAAAAGCCCAAGGCGGAGAAG	0.463000													21	41					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450696	70450696	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:70450696C>T	ENST00000373644.4	+	12	5745	c.5536C>T	c.(5536-5538)Cca>Tca	p.P1846S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1846					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						AGAGGCATCTCCAGGCTTCTC	0.488000													62	3					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26092606	26092606	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:26092606G>A	ENST00000313735.6	-	20	2616	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	795	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGTGTGGGGCCATCCACC	0.677000													7	65					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394965	94394965	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94394965G>A	ENST00000267594.5	+	3	827	c.520G>A	c.(520-522)Gag>Aag	p.E174K	FAM181A_ENST00000556222.1_Missense_Mutation_p.E112K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E112K|FAM181A_ENST00000557000.2_Missense_Mutation_p.E112K	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	174										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TCTTGCTAAGGAGCAGCTCCC	0.632000													20	26					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79974808	79974808	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79974808A>G	ENST00000265081.6	+	8	1316	c.1236A>G	c.(1234-1236)tcA>tcG	p.S412S		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	412					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTTCTCGTTCAGAGCTAGAAA	0.493000								Mismatch excision repair (MMR)					7	70					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887546	26887546	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26887546A>T	ENST00000374168.2	+	16	1506	c.1352A>T	c.(1351-1353)aAg>aTg	p.K451M	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.K435M|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.K460M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.K359M|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.K359M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.K440M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	451	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTCATTGATAAGAGCAAGCGG	0.547000													10	78					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951344	10951344	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10951344G>A	ENST00000298232.7	-	9	681	c.314C>T	c.(313-315)cCt>cTt	p.P105L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P123L|TPTE_ENST00000342420.5_Missense_Mutation_p.P85L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTCCAAAGGAATATAAAG	0.323000													16	102					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64421556	64421556	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:64421556C>T	ENST00000358025.3	+	8	940	c.710C>T	c.(709-711)tCc>tTc	p.S237F	SYNE2_ENST00000341472.5_Missense_Mutation_p.S237F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S237F|SYNE2_ENST00000356081.3_Missense_Mutation_p.S237F|SYNE2_ENST00000344113.4_Missense_Mutation_p.S237F|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	237	Actin-binding.|CH 2.				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)		AAGCATAGATCCAACAAAGAC	0.403000													28	27					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281073	54281073	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:54281073A>G	ENST00000381405.4	-	1	418	c.273T>C	c.(271-273)ccT>ccC	p.P91P	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.P91P	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	91	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CTTCACCAAAAGGATCCTCCC	0.567000													34	107					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997168	8997168	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8997168C>T	ENST00000397910.4	-	60	41231	c.41028G>A	c.(41026-41028)aaG>aaA	p.K13676K	MUC16_ENST00000380951.5_Silent_p.K317K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13678	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTGGTGCTCTTGAACAGGG	0.577000													25	64					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27346424	27346424	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:27346424G>A	ENST00000429845.2	-	13	1204	c.842C>T	c.(841-843)cCc>cTc	p.P281L	NEK10_ENST00000341435.5_Missense_Mutation_p.P281L			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	281							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTCACCTGGGGCTCTGCACA	0.512000													14	19					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792231	44792231	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44792231G>A	ENST00000291182.4	-	5	1459	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCTTCAGTGTGGACTCTCTGA	0.403000													13	55					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2937789	2937789	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2937789A>G	ENST00000261596.4	-	7	1307	c.1069T>C	c.(1069-1071)Tct>Cct	p.S357P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	357					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCTAACATAGATGAAATCTGA	0.527000													4	125					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95869061	95869061	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:95869061C>T	ENST00000523731.1	+	15	1942	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	INTS8_ENST00000447247.1_Silent_p.F603F|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	603					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAACAGAGTTCTCACCGAAGC	0.483000													70	85					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023761	18023761	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:18023761C>T	ENST00000361221.3	+	29	3885	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	ARHGEF10L_ENST00000375415.1_Silent_p.S1203S|ARHGEF10L_ENST00000452522.1_Silent_p.S1203S|ARHGEF10L_ENST00000375408.3_Silent_p.S1015S|ARHGEF10L_ENST00000167825.4_Silent_p.S945S|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1242					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCATCATCTCCGGCGGGCAGG	0.682000													63	77					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847625	22847625	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22847625G>A	ENST00000456783.2	+	4	1398	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACACATAAGAGAATTCATACT	0.378000													3	21					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48381809	48381809	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:48381809A>T	ENST00000264313.6	+	4	1224	c.806A>T	c.(805-807)aAt>aTt	p.N269I	SLAIN2_ENST00000512093.1_Missense_Mutation_p.N76I	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	269						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						ATTGGATCCAATTATAAGCTA	0.358000													20	69					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072539	197072539	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197072539G>A	ENST00000367409.4	-	18	6098	c.5842C>T	c.(5842-5844)Cgt>Tgt	p.R1948C	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1948	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCGCATGACGGAGTTCAATA	0.398000													88	106					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872253	237872253	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237872253G>A	ENST00000366574.2	+	69	10314	c.9997G>A	c.(9997-9999)Gtg>Atg	p.V3333M	RYR2_ENST00000360064.6_Missense_Mutation_p.V3331M|RYR2_ENST00000542537.1_Missense_Mutation_p.V3317M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3333					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAGCTACGGTGGTGTCTGA	0.473000													16	12					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768311	117768311	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:117768311C>T	ENST00000317775.6	-	2	1249	c.564G>A	c.(562-564)gcG>gcA	p.A188A	NOS1_ENST00000344089.3_Silent_p.A188A|NOS1_ENST00000338101.4_Silent_p.A188A	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGCTTTCTTCGCGGGGTCCT	0.632000													72	7					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228197266	228197266	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:228197266G>A	ENST00000353339.3	+	5	832	c.391G>A	c.(391-393)Gat>Aat	p.D131N	MFF_ENST00000337110.7_Missense_Mutation_p.D105N|MFF_ENST00000354503.6_Missense_Mutation_p.D105N|MFF_ENST00000349901.7_Missense_Mutation_p.D105N|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Missense_Mutation_p.D105N|MFF_ENST00000409616.1_Missense_Mutation_p.D105N|MFF_ENST00000409565.1_Missense_Mutation_p.D105N|MFF_ENST00000392059.1_Missense_Mutation_p.D131N	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	131						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGATTTTCTGGATTTAGAAAG	0.398000													97	191					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117626729	117626729	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:117626729A>G	ENST00000369466.3	+	11	2037	c.1993A>G	c.(1993-1995)Aac>Gac	p.N665D		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	665	Helicase ATP-binding.				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)		GAAACGGGTGAACAGCAACAA	0.493000													12	64					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201756955	201756955	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201756955T>G	ENST00000409020.1	+	2	583	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	NIF3L1_ENST00000359683.4_Missense_Mutation_p.F70V|NIF3L1_ENST00000416651.1_Missense_Mutation_p.F97V|NIF3L1_ENST00000409588.1_Missense_Mutation_p.F97V|NIF3L1_ENST00000409357.1_Missense_Mutation_p.F97V			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	97					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TCCGCCTATCTTCCGACCCAT	0.517000													26	57					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74401639	74401639	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74401639G>A	ENST00000319380.7	-	2	497	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	145							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ACCACAGAACGGTCCTCTAGT	0.562000													6	3					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327182	150327182	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150327182C>T	ENST00000328902.5	-	2	265	c.49G>A	c.(49-51)Gag>Aag	p.E17K	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E17K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	17							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGACAGCTCTTCTGGGGGA	0.438000													74	95					0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171339	70171339	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:70171339C>T	ENST00000342745.4	+	4	651	c.338C>T	c.(337-339)tCa>tTa	p.S113L		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	113						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ACCCACACATCACTTGGGGTC	0.507000													11	42					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529808	4529808	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4529808T>G	ENST00000381848.3	-	4	407	c.327A>C	c.(325-327)caA>caC	p.Q109H	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	109						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCTCCGAAGGTTGCTGGAGAA	0.622000													24	87					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677500	100677500	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100677500C>T	ENST00000306151.4	+	3	2867	c.2803C>T	c.(2803-2805)Ccg>Tcg	p.P935S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517000													216	233					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689235	43689235	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:43689235G>A	ENST00000404580.1	-	2	217	c.129C>T	c.(127-129)ccC>ccT	p.P43P	PSG5_ENST00000366175.3_Silent_p.P43P|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Silent_p.P43P|PSG5_ENST00000407356.1_Silent_p.P43P|PSG5_ENST00000599812.1_Silent_p.P43P|PSG5_ENST00000407568.1_Silent_p.P43P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	43	Ig-like V-type.				female pregnancy	extracellular region		p.P43P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CGGAAACTTTGGGTGGCAGGG	0.473000													81	127					0	0	1	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223923	142223923	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142223923C>T	ENST00000390367.3	-	0	260																											GAAAATCGATCCTTAGGCAAC	0.522000													20	118					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016764	1016764	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1016764A>G	ENST00000421673.2	-	31	6087	c.6037T>C	c.(6037-6039)Tcc>Ccc	p.S2013P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2013	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGAGGTGGAGAAAGGTGGA	0.537000													13	1233					0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141923587	141923587	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:141923587A>G	ENST00000392993.2	-	4	512	c.361T>C	c.(361-363)Tta>Cta	p.L121L	GK5_ENST00000466685.3_5'UTR|GK5_ENST00000544571.1_Silent_p.L121L	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	121					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACAGCTCTTAAGTCTTGCCAA	0.299000													12	81					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35716465	35716465	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35716465G>A	ENST00000373866.3	+	6	863	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ARMC12_ENST00000288065.2_Missense_Mutation_p.E308K|ARMC12_ENST00000373869.3_Missense_Mutation_p.E271K			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	281							binding										GTCCCTGCATGAATCCCTCTT	0.557000													43	59					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717378	222717378	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:222717378C>T	ENST00000343410.6	-	2	533	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	159					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCATGAGACTCCTGGAGGCCG	0.557000													71	78					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296501	20296501	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20296501G>A	ENST00000315947.1	+	1	894	c.894G>A	c.(892-894)atG>atA	p.M298I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTTCCATGAAAAAGGTGT	0.353000													4	41					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106173743	106173743	+	RNA	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106173743T>G	ENST00000390547.2	-	0	823																											AGTCAGGTACTTCTCGCGGGG	0.662000													6	86					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3115819	3115819	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:3115819T>G	ENST00000525643.2	+	2	339	c.7T>G	c.(7-9)Ttc>Gtc	p.F3V	IL32_ENST00000529550.1_Missense_Mutation_p.F3V|IL32_ENST00000549213.1_Missense_Mutation_p.F3V|IL32_ENST00000528163.2_Missense_Mutation_p.F3V|IL32_ENST00000533097.2_Missense_Mutation_p.F3V|IL32_ENST00000526464.2_Missense_Mutation_p.F3V|IL32_ENST00000325568.5_Missense_Mutation_p.F3V|IL32_ENST00000440815.3_Missense_Mutation_p.F3V|IL32_ENST00000008180.9_Missense_Mutation_p.F3V|IL32_ENST00000529699.1_Missense_Mutation_p.F3V|IL32_ENST00000552936.1_Missense_Mutation_p.F3V|IL32_ENST00000396887.3_Missense_Mutation_p.F3V|IL32_ENST00000396890.2_Missense_Mutation_p.F3V|IL32_ENST00000548652.1_Missense_Mutation_p.F3V|IL32_ENST00000548476.1_Missense_Mutation_p.F3V|IL32_ENST00000552664.1_Missense_Mutation_p.F3V|IL32_ENST00000444393.3_Missense_Mutation_p.F3V|IL32_ENST00000530538.2_Missense_Mutation_p.F3V|IL32_ENST00000552356.1_Missense_Mutation_p.F3V|IL32_ENST00000534507.1_Missense_Mutation_p.F3V|IL32_ENST00000548246.1_Missense_Mutation_p.F3V|IL32_ENST00000382213.3_Missense_Mutation_p.F3V|IL32_ENST00000551513.1_Missense_Mutation_p.F3V|IL32_ENST00000530890.1_Missense_Mutation_p.F3V|IL32_ENST00000551122.1_Missense_Mutation_p.F3V|IL32_ENST00000531965.1_Intron			P24001	IL32_HUMAN	interleukin 32	3					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CGCCATGTGCTTCCCGAAGGT	0.572000													48	114					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819100	159819100	+	RNA	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:159819100T>C	ENST00000497452.1	-	0	517																											AAGTGCTTTCTTTTCATTTCC	0.373000													11	46					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74817635	74817635	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:74817635G>A	ENST00000358399.3	+	3	454	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.E47K|GDA_ENST00000376986.1_Missense_Mutation_p.E79K|GDA_ENST00000238018.4_Missense_Mutation_p.E121K|GDA_ENST00000376989.3_Missense_Mutation_p.E96K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	121					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CGACTTTGCAGAAGAAGTATA	0.408000													79	62					0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12274228	12274228	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:12274228C>T	ENST00000320477.9	+	4	532	c.467C>T	c.(466-468)tCc>tTc	p.S156F	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	156					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGATGTACTCCGTGTCCTAC	0.582000													93	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447794	179447794	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179447794C>T	ENST00000589042.1	-	313	65960	c.65736G>A	c.(65734-65736)atG>atA	p.M21912I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M13039I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M12847I|TTN_ENST00000359218.5_Missense_Mutation_p.M12972I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M20271I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M19344I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20271	Fibronectin type-III 59.						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)			GCTGCATGGCCATCTTTATGC	0.443000													8	11					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	45994098	45994098	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:45994098A>G	ENST00000376741.4	+	3	798	c.661A>G	c.(661-663)Aac>Gac	p.N221D	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	221					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CAACCTTGTGAACGCCAGTGA	0.602000													16	46					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141113	239141113	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:239141113G>A	ENST00000456601.1	+	0	789																											GAGAGGACTCGATGAAAGGAA	0.498000													29	16					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31667171	31667171	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:31667171A>C	ENST00000331728.4	+	12	1481	c.1367A>C	c.(1366-1368)aAc>aCc	p.N456T	LIMK2_ENST00000340552.4_Missense_Mutation_p.N435T|LIMK2_ENST00000333611.4_Missense_Mutation_p.N435T|LIMK2_ENST00000444929.2_Missense_Mutation_p.N210T|LIMK2_ENST00000406516.1_Missense_Mutation_p.N378T	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	456	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AACTCGCACAACTGCCTCATC	0.547000													5	76					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090581	114090581	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:114090581G>A	ENST00000374428.1	-	1	219	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	OR2K2_ENST00000302681.1_Missense_Mutation_p.L45F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCAAAATAAGAGTGCTGTTG	0.418000													42	45					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815735	12815735	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12815735C>T	ENST00000288048.5	+	2	413	c.197C>T	c.(196-198)tCc>tTc	p.S66F	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	66										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GACCAGATCTCCAGGTGGTAT	0.527000													9	54					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476217	52476217	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:52476217A>C	ENST00000231721.2	-	4	442	c.443T>G	c.(442-444)gTt>gGt	p.V148G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	148	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACGGTGGCCAACTGTGATGAG	0.642000													11	23					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291740	33291740	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:33291740G>A	ENST00000280979.4	+	13	4891	c.4721G>A	c.(4720-4722)gGg>gAg	p.G1574E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1574	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTTTCTCCAGGGGGTGATTTA	0.398000													25	74					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110866321	110866321	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:110866321G>A	ENST00000265171.5	+	5	1275	c.830G>A	c.(829-831)gGa>gAa	p.G277E	EGF_ENST00000503392.1_Missense_Mutation_p.G277E|EGF_ENST00000509793.1_Missense_Mutation_p.G277E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	277					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAACACACTGGAAAGGACATG	0.393000													16	10					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42861646	42861646	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42861646C>T	ENST00000334370.4	+	27	5355	c.4720C>T	c.(4720-4722)Ccg>Tcg	p.P1574S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1641S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1641						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGTTACTCCCCGGAAAATGG	0.667000													30	37					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637572	248637572	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248637572G>A	ENST00000359594.2	+	1	946	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGCTCTGAGGAGCATGATGC	0.468000													56	212					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181453098	181453098	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181453098G>A	ENST00000526775.1	+	1	383	c.218G>A	c.(217-219)gGa>gAa	p.G73E	CACNA1E_ENST00000360108.3_Missense_Mutation_p.G73E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G24E|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G73E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G24E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G73E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	73					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCATCTTCGGAGAAGATAAC	0.502000													141	153					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969427	5969427	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:5969427G>A	ENST00000284898.6	-	18	1806	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R536W|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R340W|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R527W	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	536					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R536W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGCTGGCCCGGATGTCAGCC	0.632000													69	52					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50774164	50774164	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:50774164G>A	ENST00000433963.1	+	12	2205	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	USP8_ENST00000307179.4_Missense_Mutation_p.E569K|USP8_ENST00000425032.3_Missense_Mutation_p.E492K|USP8_ENST00000396444.3_Missense_Mutation_p.E569K	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	569					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAAATCTGTAGAAGATAGGGG	0.418000													20	1					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202410312	202410312	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:202410312C>T	ENST00000439140.1	-	11	1160	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	ALS2CR11_ENST00000450242.1_Silent_p.T372T|ALS2CR11_ENST00000439802.1_Silent_p.T372T|ALS2CR11_ENST00000286195.3_Silent_p.T372T	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	372										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GATTACTTTTCGTGTTTTCAG	0.239000													7	22					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050840	110050840	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110050840A>T	ENST00000369864.4	-	2	1044	c.695T>A	c.(694-696)cTg>cAg	p.L232Q	AMIGO1_ENST00000369862.1_Missense_Mutation_p.L232Q			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	232	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTGTGAAAACAGCTGGTAGAG	0.517000													15	79					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260847	32260847	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32260847C>T	ENST00000375015.4	-	26	1800	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	C6orf10_ENST00000527965.1_Missense_Mutation_p.E519K|C6orf10_ENST00000533191.1_Missense_Mutation_p.E533K|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000447241.2_Missense_Mutation_p.E535K|C6orf10_ENST00000375007.4_Missense_Mutation_p.E533K			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	535	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						Atttctgattctctctttcct	0.348000													33	33					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485268	5485268	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:5485268G>A	ENST00000345221.3	-	3	1117	c.563C>T	c.(562-564)tCc>tTc	p.S188F	NLRP1_ENST00000269280.4_Missense_Mutation_p.S188F|NLRP1_ENST00000577119.1_Missense_Mutation_p.S188F|NLRP1_ENST00000262467.5_Missense_Mutation_p.S188F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.S188F|NLRP1_ENST00000572272.1_Missense_Mutation_p.S188F	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	188					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTGAGGTGGGGATCCCCAGCT	0.597000													95	0					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359322	64359322	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:64359322C>T	ENST00000377574.1	+	1	1041	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SLC22A12_ENST00000377572.1_Silent_p.L98L|SLC22A12_ENST00000336464.7_Silent_p.L98L|SLC22A12_ENST00000377567.2_Silent_p.L98L|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	98					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						AGTGGCAGCTCTTGGACCCCA	0.662000													19	26					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35546640	35546640	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:35546640G>A	ENST00000455600.1	+	2	691	c.122G>A	c.(121-123)aGa>aAa	p.R41K	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	41						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592000													31	23					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51298303	51298303	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51298303C>T	ENST00000270593.1	+	11	1169	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L	ACPT_ENST00000270594.3_Missense_Mutation_p.P297L	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	390						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGCAGCTCCAGTGGTGCCC	0.687000													3	11					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940058	113940058	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:113940058G>A	ENST00000245796.6	+	2	220	c.25G>A	c.(25-27)Gac>Aac	p.D9N	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.D9N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	9					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGACTCCCTGACCACCCCCA	0.592000													21	24					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973962	128973962	+	Missense_Mutation	SNP	C	C	T	rs139810222		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:128973962C>T	ENST00000522781.1	-	4	1253	c.698G>A	c.(697-699)gGg>gAg	p.G233E	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.G233E	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	233										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTGGCCTCCCCCGGTCCTG	0.647000													11	11					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118784020	118784020	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:118784020C>T	ENST00000394610.1	-	5	834	c.570G>A	c.(568-570)tcG>tcA	p.S190S	SEPT6_ENST00000394616.4_Silent_p.S132S|SEPT6_ENST00000394617.2_Silent_p.S220S|SEPT6_ENST00000343984.5_Silent_p.S190S|SEPT6_ENST00000360156.7_Silent_p.S190S|SEPT6_ENST00000354228.4_Silent_p.S190S|SEPT6_ENST00000354416.3_Silent_p.S190S|SEPT6_ENST00000489216.1_Silent_p.S190S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	190					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCACTCTTCGAAATGGCAT	0.478000			T	MLL	AML								78	3					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82808128	82808128	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:82808128C>T	ENST00000265077.3	+	6	1520	c.955C>T	c.(955-957)Cta>Tta	p.L319L	VCAN_ENST00000343200.5_Silent_p.L319L|VCAN_ENST00000512590.2_Silent_p.L271L|VCAN_ENST00000513984.1_Silent_p.L319L|VCAN_ENST00000342785.4_Silent_p.L319L|VCAN_ENST00000502527.2_Silent_p.L319L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	319	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGAGGTGGTCTACTTGGGGT	0.557000													6	6					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488207	14488207	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:14488207C>T	ENST00000344204.4	+	48	7494	c.7470C>T	c.(7468-7470)ccC>ccT	p.P2490P	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2490					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)					GCTCCATCCCCGCCTCCCCCG	0.716000													14	33					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969507	160969507	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:160969507G>A	ENST00000368026.6	-	7	999	c.725C>T	c.(724-726)gCc>gTc	p.A242V	F11R_ENST00000537746.1_Missense_Mutation_p.A193V|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	242					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TACAAGGACGGCTGCCACGAT	0.532000													12	43					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312348	45312348	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45312348G>A	ENST00000313237.5	-	4	526	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	PHF21B_ENST00000404079.2_Missense_Mutation_p.P114S|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Missense_Mutation_p.P126S|PHF21B_ENST00000447824.3_Missense_Mutation_p.P114S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	126							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGGCTGCCGGGCGCTGGCACA	0.697000													41	45					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701818	46701818	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46701818C>T	ENST00000311956.4	-	10	932	c.835G>A	c.(835-837)Ggc>Agc	p.G279S		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	279	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CGGAAGATGCCCTCGGTGGTG	0.622000													33	50					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920092	10920092	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10920092G>A	ENST00000298232.7	-	18	1475	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P388S|TPTE_ENST00000342420.5_Missense_Mutation_p.P350S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	388	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCTGAGAAGGAGTTTTTACT	0.378000													11	31					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111749956	111749956	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:111749956C>T	ENST00000261726.6	+	16	2107	c.1953C>T	c.(1951-1953)atC>atT	p.I651I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	651						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGACGCCATCAAGAGCATTC	0.622000													10	0					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145540343	145540343	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:145540343A>G	ENST00000332324.4	-	17	1614	c.1341T>C	c.(1339-1341)ttT>ttC	p.F447F	DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	447					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCCCTGGAAAAAGCGGCCCA	0.602000													4	23					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602813	5602813	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5602813C>T	ENST00000345043.2	+	1	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTACTGTTTCCTACATCCAC	0.502000													85	97					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26093376	26093376	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:26093376G>A	ENST00000357618.5	+	5	1044	c.922G>A	c.(922-924)Gga>Aga	p.G308R	HFE_ENST00000397022.3_Missense_Mutation_p.G285R|HFE_ENST00000488199.1_Missense_Mutation_p.G206R|HFE_ENST00000461397.1_Missense_Mutation_p.G294R|HFE_ENST00000470149.1_Missense_Mutation_p.G305R|HFE_ENST00000349999.4_Missense_Mutation_p.G220R|HFE_ENST00000317896.7_Missense_Mutation_p.G216R|HFE_ENST00000353147.5_Missense_Mutation_p.G128R|HFE_ENST00000336625.8_Missense_Mutation_p.G202R|HFE_ENST00000309234.6_Missense_Mutation_p.G308R|HFE_ENST00000352392.4_Missense_Mutation_p.G36R	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	308					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	p.G308*(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTAGTCATTGGAGTCATCAG	0.448000									Hemochromatosis				35	34					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202219	140202219	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140202219G>A	ENST00000529859.1	+	1	859	c.859G>A	c.(859-861)Gat>Aat	p.D287N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.D287N|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D287N|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTGACGATGTAAAGTC	0.318000													5	11					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173496	51173496	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:51173496C>T	ENST00000440970.1	-	2	2777	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.E879E|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	879					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTGTAGCTGCTCTGCCAGGC	0.532000													14	19					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40064308	40064308	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:40064308C>T	ENST00000336649.4	+	27	4134	c.4134C>T	c.(4132-4134)tcC>tcT	p.S1378S	CACNA1I_ENST00000402142.3_Silent_p.S1372S|CACNA1I_ENST00000407673.1_Silent_p.S1337S|CACNA1I_ENST00000404898.1_Silent_p.S1337S|CACNA1I_ENST00000400164.3_Silent_p.S1337S|CACNA1I_ENST00000401624.1_Silent_p.S1372S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1372					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTCTGATGTCCCTCTTTGTCC	0.577000													9	17					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40462855	40462855	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40462855T>C	ENST00000287598.6	+	4	552	c.357T>C	c.(355-357)ccT>ccC	p.P119P	BUB1B_ENST00000412359.3_Silent_p.P133P|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	119	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATAGTGATCCTCGATTTCTCA	0.353000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				12	12					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164755792	164755792	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:164755792C>T	ENST00000264382.3	-	21	2384	c.2322G>A	c.(2320-2322)agG>agA	p.R774R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	774	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCCGTTGTTTCCTCCATGGCC	0.333000										HNSCC(35;0.089)			10	44					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4024052	4024052	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4024052A>C	ENST00000262971.2	+	3	588	c.473A>C	c.(472-474)aAg>aCg	p.K158T	PIAS4_ENST00000596144.1_3'UTR	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	158	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAACGAGAAGCTTCAGGAG	0.632000													15	77					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40387940	40387940	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:40387940C>T	ENST00000406785.1	-	6	2315	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	SLC8A1_ENST00000405901.3_Missense_Mutation_p.R740K|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R745K|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R709K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R745K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R709K|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R740K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R709K|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R737K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R709K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	745					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAACTGTTCTCTCCAGCTGTT	0.398000													41	32					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088697	43088697	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:43088697G>A	ENST00000359467.3	-	5	1815	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	567						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTTGAGAGAGGGTTGACTTAT	0.393000													21	22					0	0	1	0	0
RFESD	317671	broad.mit.edu	37	5	94991874	94991874	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:94991874C>T	ENST00000458310.1	+	6	1825	c.494C>T	c.(493-495)tCc>tTc	p.S165F	RFESD_ENST00000380005.4_Missense_Mutation_p.S165F|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000311364.4_Missense_Mutation_p.S112F|RFESD_ENST00000513950.2_3'UTR	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	112							2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		AAGTGGTGCTCCAAAGGAATA	0.383000													20	18					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117632191	117632191	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:117632191G>A	ENST00000368508.3	-	39	6423	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	ROS1_ENST00000368507.3_Silent_p.F2069F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2075	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.F2075F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCTGTGAATGAAATGCATCC	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	1					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89477478	89477478	+	Missense_Mutation	SNP	C	C	T	rs139351895	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89477478C>T	ENST00000370481.4	-	7	1321	c.1101G>A	c.(1099-1101)atG>atA	p.M367I		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	367						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AAGAGTTCTTCATATAGACTT	0.468000													29	38					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101601144	101601144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101601144G>A	ENST00000311812.2	-	11	1192	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q249*|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	348					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCACTGTATTGAAATCTGAGC	0.423000													56	61					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171039	117171039	+	Silent	SNP	G	G	A	rs1800077	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:117171039G>A	ENST00000003084.6	+	4	492	c.360G>A	c.(358-360)gcG>gcA	p.A120A	CFTR_ENST00000454343.1_Silent_p.A120A	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	120	ABC transmembrane type-1 1.		A -> T (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTCTATCGCGATTTATCTAG	0.458000									Cystic Fibrosis				15	15					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038790	11038790	+	RNA	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:11038790C>A	ENST00000470054.1	-	0	1413									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACCCATGCCAGTTTTTTGG	0.413000													28	320					4.43304e-23	4.47443e-23	1	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99968042	99968042	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:99968042C>T	ENST00000298999.3	+	5	474	c.171C>T	c.(169-171)tcC>tcT	p.S57S	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.S57S	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		GTTCTCTCTCCCAAAAAGAAG	0.393000													28	1					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42978010	42978010	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:42978010A>G	ENST00000331373.5	+	5	1298	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		348	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										CAGGCAAGAGAGATGCTGTGA	0.493000													10	97					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767896	39767896	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39767896C>T	ENST00000301653.4	-	2	673	c.609G>A	c.(607-609)agG>agA	p.R203R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	203	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CTCACTTGGTCCTGAAGTCAT	0.612000													12	0					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443915	5443915	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5443915T>G	ENST00000300778.4	+	1	575	c.485T>G	c.(484-486)cTt>cGt	p.L162R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCTCCCTTTTCTTACTC	0.527000													19	148					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398037	37398037	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37398037T>A	ENST00000405091.2	-	4	581	c.330A>T	c.(328-330)ggA>ggT	p.G110G	TEX33_ENST00000381821.1_Silent_p.G110G|TEX33_ENST00000402860.3_Silent_p.G25G			O43247	EAN57_HUMAN	testis expressed 33	110																	GAGCCCCCTCTCCCGAGGTGG	0.637000													9	14					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622514	156622514	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156622514C>A	ENST00000329117.4	+	8	2108	c.1772C>A	c.(1771-1773)gCc>gAc	p.A591D	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.A591D	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	591					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCGAGGGTGCCCCTTCCCTG	0.627000													28	23					2.12542e-12	2.13815e-12	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111119431	111119431	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:111119431C>T	ENST00000360467.5	+	27	2389	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	695	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCAGGACCCCCAGGCCCCAC	0.592000													21	71					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13152313	13152313	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:13152313T>G	ENST00000378748.3	+	5	568	c.206T>G	c.(205-207)tTt>tGt	p.F69C	OPTN_ENST00000378757.2_Missense_Mutation_p.F69C|OPTN_ENST00000378752.3_Missense_Mutation_p.F69C|OPTN_ENST00000378764.2_Missense_Mutation_p.F69C|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000263036.5_Missense_Mutation_p.F69C|OPTN_ENST00000378747.3_Missense_Mutation_p.F69C	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	69	Interaction with Rab8.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AAAGGGAGATTTGAGGAGCTT	0.458000													5	22					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98760956	98760956	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:98760956C>T	ENST00000266058.4	-	37	4763	c.4518G>A	c.(4516-4518)agG>agA	p.R1506R	SLIT1_ENST00000371070.4_3'UTR|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1506	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGGTGAACTTCCTCCGCTTCA	0.652000													85	6					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100359905	100359905	+	RNA	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100359905A>C	ENST00000542585.1	+	0	4058				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGACCACCTGAAGTTGGACGG	0.587000													8	54					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93722057	93722057	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:93722057A>G	ENST00000343253.7	+	25	4007	c.3505A>G	c.(3505-3507)Agt>Ggt	p.S1169G	CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.S1170G|CCDC18_ENST00000557479.1_Missense_Mutation_p.S1288G			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1169										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGGCTCTCTAGTGAACTGGA	0.393000													4	96					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41779941	41779941	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41779941C>T	ENST00000392006.3	+	4	800	c.627C>T	c.(625-627)acC>acT	p.T209T	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Silent_p.T109T|HNRNPUL1_ENST00000593587.1_Silent_p.T109T|HNRNPUL1_ENST00000378215.4_Silent_p.T166T|HNRNPUL1_ENST00000352456.3_Silent_p.T109T|HNRNPUL1_ENST00000602130.1_Silent_p.T209T|HNRNPUL1_ENST00000263367.3_Silent_p.T120T	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	209	B30.2/SPRY.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGATGATACCCTTGTTGCTA	0.458000													13	52					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686280	181686280	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:181686280C>T	ENST00000526775.1	+	11	1532	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S456F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S407F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S63F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S456F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S407F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S456F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	456					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACGGGGTCTCTTATTTCCGG	0.498000													33	68					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135390458	135390458	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135390458A>T	ENST00000442011.2	+	10	1479	c.1318A>T	c.(1318-1320)Att>Ttt	p.I440F	TGFBI_ENST00000305126.8_Missense_Mutation_p.I440F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	440	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACCACATAATTAAAGACCA	0.448000													5	188					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369430	22369430	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22369430T>A	ENST00000332663.2	+	1	953	c.855T>A	c.(853-855)aaT>aaA	p.N285K	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTTACGTAATCCCATTATTT	0.358000													26	66					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24597496	24597496	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:24597496A>C	ENST00000379145.1	-	6	635	c.591T>G	c.(589-591)gtT>gtG	p.V197V	PCYT1B_ENST00000356768.4_Silent_p.V215V|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Silent_p.V215V	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	215	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GTCGGGCATAAACATCATAGT	0.453000													30	59					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57840106	57840106	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:57840106T>G	ENST00000264230.4	-	2	2464	c.1227A>C	c.(1225-1227)aaA>aaC	p.K409N		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	409							GTP binding										GAGTTGAATCTTTTTTAAGTC	0.358000													6	47					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829499	24829499	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:24829499T>C	ENST00000337539.7	+	2	586	c.127T>C	c.(127-129)Tac>Cac	p.Y43H	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	43					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGTCACCAACTACTTTGTGGT	0.627000													4	107					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185823718	185823718	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:185823718G>A	ENST00000537818.1	-	2	101	c.66C>T	c.(64-66)ttC>ttT	p.F22F	ETV5_ENST00000306376.5_5'UTR|ETV5_ENST00000434744.1_5'UTR|DGKG_ENST00000447054.1_5'UTR			P41161	ETV5_HUMAN	ets variant 5	0					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATTTCTGGGGGAAAAGGGATC	0.403000			T	"""TMPRSS2, SCL45A3"""	Prostate								11	7					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725729	28725729	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:28725729C>T	ENST00000257197.3	-	7	1045	c.784G>A	c.(784-786)Gga>Aga	p.G262R	DSC1_ENST00000257198.5_Missense_Mutation_p.G262R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	262	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTCACTTTTCCCACTGAAGTT	0.348000													12	13					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110968444	110968444	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:110968444T>G	ENST00000409246.1	+	11	1349	c.1024T>G	c.(1024-1026)Ttc>Gtc	p.F342V	RAD9B_ENST00000392672.4_Intron|RAD9B_ENST00000409300.1_Missense_Mutation_p.F414V|RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000409425.1_Missense_Mutation_p.F342V			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	0					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TAATGGCAGTTTCTCTATATT	0.468000													5	34					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41272555	41272555	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:41272555G>A	ENST00000361937.3	-	36	4961	c.4537C>T	c.(4537-4539)Cct>Tct	p.P1513S	INO80_ENST00000401393.3_Missense_Mutation_p.P1513S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1513	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						GAACTCAAAGGAGAAGAGGCG	0.557000													24	5					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219000	42219000	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42219000T>C	ENST00000221992.6	+	3	649	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R	CEACAM5_ENST00000405816.1_Missense_Mutation_p.W179R|CEACAM5_ENST00000398599.4_Missense_Mutation_p.W179R|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	179	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTACCTGTGGTGGGTAAACAA	0.542000													29	156					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702265	6702265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:6702265G>A	ENST00000309577.6	-	17	2807	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.Q879*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.Q875*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.Q882*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	882	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTTAGACTGATTGTTCTTC	0.473000													39	36					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66249785	66249785	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66249785C>T	ENST00000532677.1	+	2	572	c.171C>T	c.(169-171)tcC>tcT	p.S57S	DPP3_ENST00000453114.1_Silent_p.S38S|DPP3_ENST00000541961.1_Silent_p.S38S|DPP3_ENST00000531863.1_Silent_p.S58S|DPP3_ENST00000360510.2_Silent_p.S38S|DPP3_ENST00000530165.1_Silent_p.S38S	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	38					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACCACCTGTCCCGTGCCGCCT	0.647000													29	47					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605574	50605574	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50605574C>T	ENST00000444124.2	-	4	619	c.419G>A	c.(418-420)gGg>gAg	p.G140E	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Missense_Mutation_p.G140E|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.G140E|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.G140E	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	140	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACTCCTCCCCCTTCTCCAGC	0.557000													40	73					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122964752	122964752	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:122964752G>A	ENST00000543897.1	-	9	2766	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ZCCHC8_ENST00000536306.1_Silent_p.P137P|ZCCHC8_ENST00000336229.4_Silent_p.P375P			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	375						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAATTCCTCTGGGAGTAGATA	0.318000													2	0					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156450706	156450706	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156450706A>G	ENST00000348159.4	-	4	796	c.316T>C	c.(316-318)Tcg>Ccg	p.S106P	MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000368240.2_Missense_Mutation_p.S106P|MEF2D_ENST00000360595.3_Missense_Mutation_p.S106P|MEF2D_ENST00000340875.5_Intron	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	106					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTTCCAGCGAGTCCTCCCCG	0.657000											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	202					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135096647	135096647	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:135096647G>A	ENST00000368563.2	-	15	2580	c.2224C>T	c.(2224-2226)Ccc>Tcc	p.P742S	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.P335S|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.P742S|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.P612S|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.P770S	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	742					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGCAGCTCGGGGTTGGTGAGC	0.607000													45	4					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135692539G>A	ENST00000513104.1	-	2	819	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_ENST00000426057.2_Silent_p.I179I|TRPC7_ENST00000355180.3_Silent_p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000													54	41					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868817	7868817	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:7868817G>A	ENST00000345088.2	+	3	468	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	117						cytoplasm|nucleus		p.K117K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAACAAACAAGGAGCCTAAGG	0.289000													5	9					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31406161	31406161	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:31406161T>G	ENST00000373747.3	-	22	3566	c.3467A>C	c.(3466-3468)aAg>aCg	p.K1156T	PUM1_ENST00000440538.2_Missense_Mutation_p.K1129T|PUM1_ENST00000373741.4_Missense_Mutation_p.K1191T|PUM1_ENST00000426105.2_Missense_Mutation_p.K1155T|PUM1_ENST00000373742.2_Missense_Mutation_p.K1094T|PUM1_ENST00000423018.2_Missense_Mutation_p.K1011T|PUM1_ENST00000257075.5_Missense_Mutation_p.K1153T|PUM1_ENST00000424085.2_Missense_Mutation_p.K911T	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1153	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATAGGTGTACTTACGAAGAGT	0.532000													23	165					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764596	92764596	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92764596T>G	ENST00000318238.4	-	5	1905	c.689A>C	c.(688-690)aAt>aCt	p.N230T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N230T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N230T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	230										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTGCGTGAATTCATACAAGC	0.438000													16	74					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169268	90169268	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:90169268T>G	ENST00000333209.3	-	2	2512	c.1994A>C	c.(1993-1995)aAg>aCg	p.K665T		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	665								p.Q666fs*23(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCCAAGCTGCTTTTTCTTATC	0.557000													18	30					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781241	135781241	+	Missense_Mutation	SNP	G	G	A	rs118203566		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:135781241G>A	ENST00000298552.3	-	15	1945	c.1724C>T	c.(1723-1725)tCt>tTt	p.S575F	TSC1_ENST00000440111.2_Missense_Mutation_p.S575F|TSC1_ENST00000545250.1_Missense_Mutation_p.S524F	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	575					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGTCTCCAAAGAAGTCTGGCA	0.542000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				26	20					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41711862	41711862	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:41711862G>A	ENST00000310054.4	+	8	1380		c.e8-1		CYP2S1_ENST00000542619.1_Splice_Site	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TTTCCCCTCAGGGCACGGAGG	0.532000													25	29					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44922337	44922337	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44922337T>G	ENST00000371460.1	-	10	938	c.621A>C	c.(619-621)aaA>aaC	p.K207N	SUPT3H_ENST00000371459.1_Missense_Mutation_p.K196N|SUPT3H_ENST00000306867.5_Missense_Mutation_p.K196N|SUPT3H_ENST00000371461.2_Missense_Mutation_p.K207N|SUPT3H_ENST00000371458.1_5'UTR	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	278					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						ATTTGGAAGCTTTTTTGGCTG	0.328000													18	49					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006163	34006163	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34006163C>T	ENST00000373381.4	-	60	9769	c.9593G>A	c.(9592-9594)gGa>gAa	p.G3198E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3174	Sushi 26.					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)				GGACCCATTTCCCTCACAGGT	0.582000													63	44					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263128	167263128	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:167263128G>A	ENST00000409855.1	-	25	4137	c.4011C>T	c.(4009-4011)tcC>tcT	p.S1337S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1337					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCACAAGGTAGGATCCTACTG	0.413000													41	35					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24593540	24593540	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:24593540G>A	ENST00000264463.4	-	2	567	c.60C>T	c.(58-60)tgC>tgT	p.C20C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	20					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTCTGGAGAGCAGAAATGTG	0.403000										HNSCC(23;0.051)			30	92					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21205643	21205643	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:21205643C>T	ENST00000261560.5	+	2	233	c.52C>T	c.(52-54)Cct>Tct	p.P18S	ZNF430_ENST00000595401.1_Missense_Mutation_p.P18S|ZNF430_ENST00000599548.1_Missense_Mutation_p.P18S	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGTGGATGCCCTGGGGCTGA	0.443000													34	40					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994914	144994914	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:144994914G>A	ENST00000322810.4	-	32	9655	c.9486C>T	c.(9484-9486)gtC>gtT	p.V3162V	PLEC_ENST00000436759.2_Silent_p.V3052V|PLEC_ENST00000354589.3_Silent_p.V3025V|PLEC_ENST00000356346.3_Silent_p.V3011V|PLEC_ENST00000527096.1_Silent_p.V3048V|PLEC_ENST00000357649.2_Silent_p.V3029V|PLEC_ENST00000345136.3_Silent_p.V3025V|PLEC_ENST00000354958.2_Silent_p.V3003V|PLEC_ENST00000398774.2_Silent_p.V2993V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3162	Globular 2.		V -> I (in dbSNP:rs35027700).		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						CACCCGCGATGACGTTGGCAC	0.642000													29	44					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770778	37770778	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:37770778T>C	ENST00000402918.1	-	3	1582	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.Q266R	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	266						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGGCTCCCTCTGGGCGTCGGT	0.687000													8	66					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344746	5344746	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5344746C>T	ENST00000328813.2	-	1	836	c.782G>A	c.(781-783)aGa>aAa	p.R261K	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	261					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)		CTTCCCAAATCTGTAAATGAA	0.408000													34	34					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012452	135012452	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:135012452G>A	ENST00000304613.3	+	14	2461	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N	KNDC1_ENST00000368572.2_Missense_Mutation_p.D814N|KNDC1_ENST00000368571.2_Missense_Mutation_p.D749N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCAGGCCCGACGCCCTGGg	0.756000													5	0					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653263	159653263	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:159653263C>T	ENST00000297267.9	+	11	1919	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FNDC1_ENST00000340366.6_Silent_p.G510G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	573						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTAGACACGGCCACTCGGTGG	0.657000													10	0					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4855405	4855405	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:4855405A>T	ENST00000252318.2	+	6	1491	c.1154A>T	c.(1153-1155)aAc>aTc	p.N385I		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	385	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGAGGAGAGAACGTGGAGCTT	0.498000													48	50					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112418637	112418637	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112418637G>A	ENST00000302475.4	-	9	1697	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	MCC_ENST00000515367.2_Silent_p.F315F|MCC_ENST00000408903.3_Silent_p.F568F|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	378					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGAGTGTTTGGAAAATCTCTT	0.463000													17	20					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17168147	17168147	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:17168147T>G	ENST00000539941.2	-	6	738	c.530A>C	c.(529-531)aAc>aCc	p.N177T	COPS3_ENST00000439936.2_Missense_Mutation_p.N177T|COPS3_ENST00000268717.5_Missense_Mutation_p.N197T	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	197					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCTTTCAAAGTTCTTCAGCCC	0.358000													5	82					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1544063	1544063	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:1544063G>A	ENST00000389470.4	-	2	238	c.239C>T	c.(238-240)cCt>cTt	p.P80L				Q8N201	INT1_HUMAN	integrator complex subunit 1	0					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACAACCGGAAGGAAAACAGTG	0.746000													4	4					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216240068	216240068	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:216240068G>A	ENST00000354785.4	-	38	6395	c.6026C>T	c.(6025-6027)tCc>tTc	p.S2009F	FN1_ENST00000336916.4_Missense_Mutation_p.S1918F|FN1_ENST00000443816.1_Missense_Mutation_p.S1828F|FN1_ENST00000323926.6_Missense_Mutation_p.S2009F|FN1_ENST00000346544.3_Missense_Mutation_p.S1918F|FN1_ENST00000356005.4_Missense_Mutation_p.S1828F|FN1_ENST00000345488.5_Missense_Mutation_p.S1918F|FN1_ENST00000446046.1_Missense_Mutation_p.S1918F|FN1_ENST00000357867.4_Missense_Mutation_p.S1828F|FN1_ENST00000432072.2_Missense_Mutation_p.S1919F|FN1_ENST00000421182.1_Missense_Mutation_p.S1828F|FN1_ENST00000359671.1_Missense_Mutation_p.S1918F|FN1_ENST00000357009.2_Missense_Mutation_p.S1918F			P02751	FINC_HUMAN	fibronectin 1	1918	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACCAGCAAGGAATTGGGTGT	0.498000													10	35					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943316	50943316	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50943316G>A	ENST00000216080.5	-	10	1445	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	LMF2_ENST00000474879.2_Missense_Mutation_p.S451F|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	451						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGCCGTAGGAGTTGGCCAG	0.692000													10	13					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72920191	72920191	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:72920191A>C	ENST00000361138.5	+	11	1551	c.1493A>C	c.(1492-1494)aAa>aCa	p.K498T		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	498	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAAATGCCAAATATATTGAA	0.279000													10	43					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186072630	186072630	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186072630G>A	ENST00000271588.4	+	69	10829	c.10600G>A	c.(10600-10602)Gaa>Aaa	p.E3534K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3534K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3534	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGATCTGAAGAACATGAAGA	0.353000													13	62					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227979384	227979384	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:227979384C>T	ENST00000396625.3	-	8	725	c.518G>A	c.(517-519)gGa>gAa	p.G173E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G173E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	173	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACTGAATTTCCTTTTTCTCC	0.323000													39	21					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279922	163279922	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:163279922G>A	ENST00000332142.5	-	9	2177	c.2078C>T	c.(2077-2079)cCc>cTc	p.P693L	KCNH7_ENST00000328032.4_Missense_Mutation_p.P686L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	693					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.P693R(1)|p.P686R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAGAGGGTTGGGGATTTGGTG	0.438000													90	45					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88898998	88898998	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:88898998T>G	ENST00000347404.5	-	8	1285	c.713A>C	c.(712-714)aAa>aCa	p.K238T	KITLG_ENST00000357116.4_Missense_Mutation_p.K49T|KITLG_ENST00000228280.5_Missense_Mutation_p.K266T|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	266					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CTCTCTCTCTTTCTCTTGCAA	0.338000									Testicular Cancer, Familial Clustering of				5	4					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612366	53612366	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53612366C>T	ENST00000455735.2	-	7	1396	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	ZNF415_ENST00000421033.1_Missense_Mutation_p.R323Q|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R311Q|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.R298Q|ZNF415_ENST00000500065.4_Missense_Mutation_p.R311Q|ZNF415_ENST00000448501.1_Missense_Mutation_p.R359Q|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.R81Q			Q09FC8	ZN415_HUMAN	zinc finger protein 415	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GCATGAATTTCGACTGAAGAC	0.428000													21	51					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590773	172590773	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:172590773C>T	ENST00000231668.9	+	7	769	c.665C>T	c.(664-666)tCc>tTc	p.S222F	BNIP1_ENST00000352523.6_Missense_Mutation_p.S188F|BNIP1_ENST00000351486.5_Missense_Mutation_p.S179F|BNIP1_ENST00000393770.4_Missense_Mutation_p.S145F	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	179					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAATTTAAGTCCATGTCGGGC	0.498000													22	29					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307671	39307671	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:39307671G>A	ENST00000541347.1	-	2	569	c.330C>T	c.(328-330)ttC>ttT	p.F110F	CX3CR1_ENST00000399220.2_Silent_p.F110F|CX3CR1_ENST00000542107.1_Silent_p.F110F|CX3CR1_ENST00000358309.3_Silent_p.F142F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	110					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAAAGCCGATGAAGAAGAAGG	0.483000													65	42					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391140	31391140	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31391140G>A	ENST00000268296.4	+	25	3052	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	ITGAX_ENST00000562522.1_Silent_p.L977L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	977					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTGGAGCTGAACCAGGAGG	0.592000													11	26					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42942373	42942373	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42942373T>C	ENST00000426333.2	-	14	1507	c.1210A>G	c.(1210-1212)Acg>Gcg	p.T404A	EFTUD2_ENST00000402521.3_Missense_Mutation_p.T369A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.T404A|EFTUD2_ENST00000592576.1_Missense_Mutation_p.T394A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCCTCCTTCGTCAGGTGGATG	0.552000											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	51					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35035355	35035355	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35035355A>C	ENST00000231420.6	-	5	753	c.553T>G	c.(553-555)Tca>Gca	p.S185A		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	185					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATGTTGTTTGAGTGCGCCCTG	0.438000													14	149					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110603659	110603659	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:110603659T>C	ENST00000369792.4	-	4	815	c.728A>G	c.(727-729)cAg>cGg	p.Q243R	RP4-773N10.4_ENST00000554749.1_RNA|RP4-773N10.4_ENST00000596959.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGGAGTTCTGCAGCTGAAA	0.597000													9	8					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12339601	12339601	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12339601A>C	ENST00000358136.3	+	20	4626	c.4496A>C	c.(4495-4497)aAg>aCg	p.K1499T	VPS13D_ENST00000356315.4_Missense_Mutation_p.K1499T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1499					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACTGGAGAAGATCCCTATA	0.363000													4	82					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745522	23745522	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23745522G>A	ENST00000357460.5	-	2	1079	c.915C>T	c.(913-915)ccC>ccT	p.P305P	HOMEZ_ENST00000561013.1_Silent_p.P307P|HOMEZ_ENST00000431326.2_Silent_p.P307P	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	305						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGCTGGAGGGGTTTAGAGG	0.542000													17	21					0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41250188	41250188	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:41250188C>T	ENST00000591620.1	-	2	377	c.351G>A	c.(349-351)caG>caA	p.Q117Q	TREM1_ENST00000334475.6_Silent_p.Q117Q|TREM1_ENST00000244709.4_Silent_p.Q117Q|TREM1_ENST00000589614.1_Silent_p.Q117Q	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	117	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CCTTGGGAGGCTGGTAGATCA	0.532000													16	12					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734464	12734464	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:12734464C>T	ENST00000380682.1	+	15	2392	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	629					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTCAGCGGTCCCTATTGACC	0.507000													70	7					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180429693	180429693	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:180429693C>T	ENST00000342868.6	+	4	879	c.695C>T	c.(694-696)cCt>cTt	p.P232L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	232					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CAGCCCTCACCTTGGCGCCTG	0.458000													20	1					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50593567	50593567	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:50593567T>C	ENST00000380877.3	-	5	895		c.e5-2		GABPB1_ENST00000543881.1_Splice_Site|GABPB1_ENST00000396464.3_Splice_Site|GABPB1_ENST00000359031.4_Splice_Site|GABPB1_ENST00000220429.8_Splice_Site|GABPB1_ENST00000429662.2_Splice_Site|GABPB1_ENST00000560825.1_Splice_Site	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1						positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CATAGCAATCTAGGGAAAAAA	0.383000													29	29					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692142	116692142	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:116692142T>G	ENST00000357780.3	-	3	746	c.632A>C	c.(631-633)aAg>aCg	p.K211T		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTGGTCAATCTTGACTTTGAA	0.612000													4	108					0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74710289	74710289	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:74710289G>A	ENST00000261918.4	-	4	942	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	SEMA7A_ENST00000542748.1_5'UTR|SEMA7A_ENST00000543145.2_Missense_Mutation_p.L118F	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	132	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCTCCAGGAGAGTGATGTAG	0.627000													30	34					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129986424	129986424	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:129986424G>A	ENST00000485477.1	+	2	1227	c.98G>A	c.(97-99)gGc>gAc	p.G33D	CPA5_ENST00000474905.1_Missense_Mutation_p.G33D|CPA5_ENST00000466363.2_Missense_Mutation_p.G33D|CPA5_ENST00000431780.2_Missense_Mutation_p.G33D|CPA5_ENST00000355388.3_Missense_Mutation_p.G33D|CPA5_ENST00000393213.3_Missense_Mutation_p.G33D|CPA5_ENST00000461828.1_Missense_Mutation_p.G33D			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	33					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCAGCTTTGGGCCAAATGAAT	0.652000													61	56					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33502344	33502344	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:33502344C>T	ENST00000265371.4	-	10	2109	c.1584G>A	c.(1582-1584)atG>atA	p.M528I	NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374823.5_Missense_Mutation_p.M528I|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Missense_Mutation_p.M528I|NRP1_ENST00000374816.3_Missense_Mutation_p.M528I|NRP1_ENST00000374867.2_Missense_Mutation_p.M528I|NRP1_ENST00000395995.1_Missense_Mutation_p.M528I|NRP1_ENST00000374821.5_Missense_Mutation_p.M528I			O14786	NRP1_HUMAN	neuropilin 1	528	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CATCCATGATCATCTTCCAGT	0.532000													84	107					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72256015	72256015	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:72256015C>T	ENST00000305425.4	-	2	1304	c.882G>A	c.(880-882)agG>agA	p.R294R	DACH1_ENST00000359684.2_Silent_p.R294R|DACH1_ENST00000354591.4_Silent_p.R294R|DACH1_ENST00000313174.7_Silent_p.R294R	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	292	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CACTTTGAGTCCTCTTAGGAG	0.418000													21	19					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19518823	19518823	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:19518823A>C	ENST00000375267.2	-	11	1256	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R	UBR4_ENST00000375217.2_Missense_Mutation_p.L418R|UBR4_ENST00000375226.2_Missense_Mutation_p.L418R|UBR4_ENST00000375254.3_Missense_Mutation_p.L418R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	418					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TATGAGGAAAAGGCTGTTTAA	0.438000													25	101					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66299191	66299191	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:66299191A>C	ENST00000419755.3	+	16	1862	c.1784A>C	c.(1783-1785)aAg>aCg	p.K595T	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.K461T|BBS1_ENST00000393994.2_Missense_Mutation_p.K429T|BBS1_ENST00000318312.7_Missense_Mutation_p.K558T																							CTCAGTAACAAGGGCATCTCA	0.552000													38	140					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247434	164247434	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:164247434G>A	ENST00000296533.2	-	2	804	c.273C>T	c.(271-273)atC>atT	p.I91I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	91					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGACACATGATGGCAACAA	0.408000													36	25					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901483	150901483	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:150901483G>A	ENST00000261800.5	-	18	10683	c.10671C>T	c.(10669-10671)gaC>gaT	p.D3557D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3557	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGGTCTCGGTCTGTGGCAT	0.582000													12	16					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48547127	48547127	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:48547127T>G	ENST00000293255.2	-	1	183	c.53A>C	c.(52-54)gAg>gCg	p.E18A		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	18					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ccGCTGTTTCTCAGCAATGCC	0.632000													13	43					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34667858	34667858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:34667858C>T	ENST00000488417.1	+	4	1564	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.Q292*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	292							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTTGCAGTATCAGGTCAGTGA	0.542000													9	77					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152419197	152419197	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152419197G>A	ENST00000397345.3	-	120	19021	c.18819C>T	c.(18817-18819)ttC>ttT	p.F6273F	NEB_ENST00000603639.1_Silent_p.F6273F|NEB_ENST00000172853.10_Silent_p.F4572F|NEB_ENST00000604864.1_Silent_p.F6273F|NEB_ENST00000427231.2_Silent_p.F6273F|NEB_ENST00000409198.1_Silent_p.F4572F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6282					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCACTGGTGGAAATAGTGTC	0.473000													11	8					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493648	86493648	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:86493648G>A	ENST00000361669.2	+	6	3716	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q|GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q|GRM3_ENST00000546348.1_Missense_Mutation_p.D465N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	873					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGAAGTCCTCGACTCCACCAC	0.468000													31	70					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019628	75019628	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75019628G>A	ENST00000261978.4	-	5	1545	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.H387Y	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	387					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCGTGCCCATGGCCGCCCTGG	0.627000													7	16					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300126	101300126	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101300126T>C	ENST00000519449.1	-	3	593	c.277A>G	c.(277-279)Agt>Ggt	p.S93G	RNF19A_ENST00000341084.2_Missense_Mutation_p.S93G	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	93					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTTTCAATACTTGCAATTCCA	0.363000													32	118					0	0	1	0	0
TSPEAR-AS2	114043	broad.mit.edu	37	21	45945705	45945705	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45945705A>G	ENST00000465978.1	+	2	216		c.e2-1		TSPEAR_ENST00000323084.4_Silent_p.A389A|TSPEAR_ENST00000397916.1_Silent_p.A321A																							GTTCAAAATTAGCCACTGCCA	0.498000													32	185					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110446	7110446	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7110446G>A	ENST00000306904.5	+	1	282	c.95G>A	c.(94-96)gGc>gAc	p.G32D		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	32	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCAAGTATGGCCGCATCGTC	0.592000													11	13					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724555	112724555	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:112724555G>A	ENST00000501255.2	-	3	845	c.222C>T	c.(220-222)ttC>ttT	p.F74F	GPR85_ENST00000449591.1_Silent_p.F74F|GPR85_ENST00000297146.2_Silent_p.F74F|GPR85_ENST00000424100.1_Silent_p.F74F	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACACAAATGGGAAACAAATTG	0.418000													44	61					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604274	95604274	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:95604274T>G	ENST00000343958.4	-	2	1009	c.786A>C	c.(784-786)aaA>aaC	p.K262N	FGD6_ENST00000549499.1_Missense_Mutation_p.K262N|FGD6_ENST00000546711.1_Missense_Mutation_p.K262N	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	262					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTATTGCTTTTTTCACTGT	0.378000													10	24					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10332200	10332200	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10332200G>A	ENST00000298530.3	+	1	589	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	TMEM52B_ENST00000381923.2_Silent_p.A9A|TMEM52B_ENST00000536952.1_Silent_p.A9A	NM_153022.2	NP_694567.1			transmembrane protein 52B																		ATGTCGTGGCGGCCTCAGCCC	0.488000													90	115					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34567576	34567576	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:34567576A>G	ENST00000354181.3	-	3	778	c.286T>C	c.(286-288)Tcc>Ccc	p.S96P	SLC12A6_ENST00000290209.5_Missense_Mutation_p.S45P|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S96P|SLC12A6_ENST00000458406.2_Missense_Mutation_p.S37P|SLC12A6_ENST00000558589.1_Missense_Mutation_p.S87P|SLC12A6_ENST00000397702.2_Missense_Mutation_p.S37P|SLC12A6_ENST00000558667.1_Missense_Mutation_p.S96P|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000451844.2_5'UTR			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	96					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTGTGATGGAGTTCTGACTC	0.338000													3	5					0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9546967	9546967	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:9546967G>A	ENST00000360635.3	-	8	1495	c.599C>T	c.(598-600)cCc>cTc	p.P200L	ITGB1BP1_ENST00000359712.3_3'UTR|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.P150L|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.P150L|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.P200L			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	200	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CAGGATTCAGGGTTTCTCAGA	0.373000													15	46					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799812	5799812	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5799812G>A	ENST00000317093.2	-	1	85	c.53C>T	c.(52-54)cCa>cTa	p.P18L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AATAAAAGATGGAGGAGTCAC	0.378000													49	4					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209353737	209353737	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:209353737G>A	ENST00000272847.2	+	11	1290	c.1076_splice	c.e11-1	p.R359_splice	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	359						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTCCTTTAGGAAACTGGCCA	0.478000													25	20					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99511774	99511774	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:99511774C>T	ENST00000535714.1	-	5	1167	c.362G>A	c.(361-363)gGa>gAa	p.G121E	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.G175E	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	175					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CTTGGGCTTTCCCACCTCTTC	0.562000													10	12					0	0	1	0	0
LYRM2	57226	broad.mit.edu	37	6	90347064	90347064	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:90347064G>A	ENST00000520318.1	-	3	244	c.212C>T	c.(211-213)tCc>tTc	p.S71F	LYRM2_ENST00000520441.1_Intron|LYRM2_ENST00000523377.1_Silent_p.I65I|LYRM2_ENST00000517396.1_5'UTR			Q9NU23	LYRM2_HUMAN	LYR motif containing 2	71										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		TCATCATCCGGATTGTATCCT	0.318000													5	0					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31297448	31297448	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:31297448G>A	ENST00000265071.2	+	4	841	c.576G>A	c.(574-576)ggG>ggA	p.G192G	CDH6_ENST00000514738.1_Silent_p.G137G	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	192	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACATATGGGAACAGTGCTA	0.363000													82	19					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242271	155242271	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:155242271G>A	ENST00000357232.3	-	14	2914	c.2915C>T	c.(2914-2916)tCa>tTa	p.S972L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	972	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGATCAGATGACTTTATCAA	0.348000													14	9					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149589826	149589826	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:149589826T>A	ENST00000344229.3	+	5	908	c.206T>A	c.(205-207)aTt>aAt	p.I69N	RNF13_ENST00000392894.3_Missense_Mutation_p.I69N	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	69	PA.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTTTTTTGATTAACTCAAAA	0.343000													4	32					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36105272	36105272	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:36105272T>C	ENST00000296603.4	-	17	2387	c.1925A>G	c.(1924-1926)aAc>aGc	p.N642S		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	642						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAGTCCTGTTATTAGCCCT	0.418000													9	121					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592103	38592103	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38592103A>C	ENST00000413689.1	-	28	5953	c.5760T>G	c.(5758-5760)tcT>tcG	p.S1920S	SCN5A_ENST00000414099.2_Silent_p.S1902S|SCN5A_ENST00000423572.2_Silent_p.S1919S|SCN5A_ENST00000425664.1_Silent_p.S1902S|SCN5A_ENST00000333535.4_Silent_p.S1920S|SCN5A_ENST00000443581.1_Silent_p.S1919S|SCN5A_ENST00000449557.2_Silent_p.S1866S|SCN5A_ENST00000451551.2_Silent_p.S1866S|SCN5A_ENST00000455624.2_Silent_p.S1887S|SCN5A_ENST00000450102.2_Silent_p.S1866S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1920	IQ.				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATGCTTCAAAGAGCGTTGCA	0.622000													5	41					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26291192	26291192	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26291192A>G	ENST00000335473.7	+	28	4863	c.4613A>G	c.(4612-4614)cAa>cGa	p.Q1538R	CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597614.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.Q1539R|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q1538R|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1538	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGTCTGCAGCAATGCGAGGAG	0.542000													8	15					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850861	22850861	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:22850861T>A	ENST00000404138.1	+	18	3960	c.3449T>A	c.(3448-3450)cTt>cAt	p.L1150H	ZBTB40_ENST00000374651.4_Missense_Mutation_p.L1038H|ZBTB40_ENST00000375647.4_Missense_Mutation_p.L1150H	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1150					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGGCCCAGCTTGACAGTCAC	0.587000													15	50					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748520	62748520	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62748520G>A	ENST00000377871.3	-	6	1240	c.974C>T	c.(973-975)tCg>tTg	p.S325L	SLC22A6_ENST00000360421.4_Missense_Mutation_p.S325L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.S325L|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S325L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	325					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCCATGGCCGATGCCTGGCC	0.642000													22	24					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638796	32638796	+	Missense_Mutation	SNP	A	A	C	rs140343985		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:32638796A>C	ENST00000286827.3	-	5	964	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.F165V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	165					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCTTCTTAAAGCTCGCCGTC	0.507000													17	102					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127013831	127013831	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127013831T>G	ENST00000393313.1	-	5	2150	c.1559A>C	c.(1558-1560)aAg>aCg	p.K520T	ZNF800_ENST00000265827.3_Missense_Mutation_p.K520T|ZNF800_ENST00000393312.1_Missense_Mutation_p.K520T			Q2TB10	ZN800_HUMAN	zinc finger protein 800	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AAGAGGACACTTGTAGAATTT	0.348000													5	66					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17367431	17367431	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17367431T>G	ENST00000252597.3	-	9	1492	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	USHBP1_ENST00000431146.2_Missense_Mutation_p.K376T	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	440							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGAGAGAATCTTCATTAGAGA	0.617000													28	96					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156716	111156716	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111156716C>T	ENST00000280325.4	+	4	795	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	216										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ATGACCCTTCCCCTTGGGTGA	0.537000													44	2					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211523352	211523352	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:211523352G>A	ENST00000233072.5	+	31	3892	c.3696G>A	c.(3694-3696)aaG>aaA	p.K1232K	CPS1_ENST00000451903.2_Silent_p.K781K|CPS1_ENST00000430249.2_Silent_p.K1238K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1232	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGATTGCAAAGGCTTTTGCCA	0.408000													18	12					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147510860	147510860	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147510860G>A	ENST00000359874.3	+	32	3166	c.3093G>A	c.(3091-3093)agG>agA	p.R1031R	SPINK5_ENST00000256084.7_Silent_p.R1001R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1001	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGCCCAGGATAGGTTATC	0.423000													40	54					0	0	1	0	0
AC007040.8	0	broad.mit.edu	37	2	71256076	71256076	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:71256076C>T	ENST00000434990.1	-	0	61																											CACGGAATCTCACAGGAGCCT	0.502000													3	4					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960542	7960542	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7960542G>A	ENST00000360759.3	-	1	599	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGAAGAGATGATTAATTTCA	0.418000													13	70					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217234482	217234482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:217234482G>A	ENST00000273067.4	-	1	2268	c.502C>T	c.(502-504)Cag>Tag	p.Q168*		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	168						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCTGGCCCCTGGAAGCAGATG	0.557000													33	32					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15562670	15562670	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15562670G>A	ENST00000343625.6	-	18	3052	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	991					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						AGACCCCCGCGTCCTTGGAGA	0.607000													4	82					0	0	1	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849530	102849530	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:102849530C>T	ENST00000445873.1	-	3	1409	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	45																	CCCCAGTGCTCTGCCCTCAAG	0.642000													6	0					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570867	44570867	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:44570867A>C	ENST00000591793.1	+	7	1299	c.1216A>C	c.(1216-1218)Agc>Cgc	p.S406R	ZNF223_ENST00000434772.3_Missense_Mutation_p.S296R			Q9UK11	ZN223_HUMAN	zinc finger protein 223	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATGTAGTGTGAGCTTCCGTCT	0.453000													34	99					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927726	23927726	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:23927726C>T	ENST00000402377.3	-	4	767	c.626G>A	c.(625-627)gGa>gAa	p.G209E	ZNF681_ENST00000395385.3_Missense_Mutation_p.G140E	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GATTGAGGATCCATTAAAGGC	0.318000													3	9					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94248117	94248117	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:94248117T>C	ENST00000415788.2	-	6	810	c.723A>G	c.(721-723)ctA>ctG	p.L241L	SGCE_ENST00000428696.2_Silent_p.L205L|SGCE_ENST00000447873.1_Silent_p.L205L|SGCE_ENST00000445866.2_Silent_p.L205L|SGCE_ENST00000437425.2_Silent_p.L164L|SGCE_ENST00000265735.7_Silent_p.L205L			O43556	SGCE_HUMAN	sarcoglycan, epsilon	205	Cys-rich.				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCCCTGTCTAGGGCCGATG	0.468000													6	54					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74023229	74023229	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:74023229G>A	ENST00000301607.3	-	1	304	c.51C>T	c.(49-51)ggC>ggT	p.G17G	EVPL_ENST00000586740.1_Silent_p.G17G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	17	4 X 4 AA tandem repeats of K-G-S-P.|Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						tggcgggggagcccttggggg	0.677000													12	2					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95482669	95482669	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95482669G>A	ENST00000356884.6	-	4	1042	c.975C>T	c.(973-975)ctC>ctT	p.L325L	BICD2_ENST00000375512.3_Silent_p.L325L	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	325					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGCGGTGCGAGGCCCTCCT	0.617000													15	57					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10672385	10672385	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10672385G>A	ENST00000312962.6	-	6	483	c.464C>T	c.(463-465)tCg>tTg	p.S155L	KRI1_ENST00000361821.5_Missense_Mutation_p.S151L|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	155	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTTTGCGACGATGTCTCCTG	0.607000													84	90					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67694198G>A	ENST00000219251.8	-	1	515	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ACD_ENST00000393919.4_Missense_Mutation_p.L62F	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736000													20	2					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138413161	138413161	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:138413161G>A	ENST00000409968.1	+	22	4214	c.4036G>A	c.(4036-4038)Gat>Aat	p.D1346N	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.D1318N|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1349N					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACGTGTCGAGGATGCACTGTG	0.547000													3	13					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83021895	83021895	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83021895T>C	ENST00000307792.3	-	14	2110	c.1643A>G	c.(1642-1644)tAc>tGc	p.Y548C	SEMA3E_ENST00000427262.1_Missense_Mutation_p.Y488C	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	548					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCCTGTTGGGTAATACCGGGA	0.443000													12	48					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994147	140994147	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:140994147C>T	ENST00000285879.4	+	4	1243	c.957C>T	c.(955-957)ttC>ttT	p.F319F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	319							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.478000										HNSCC(15;0.026)			9	161					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266765	48266765	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:48266765T>C	ENST00000225964.5	-	39	2920	c.2802A>G	c.(2800-2802)aaA>aaG	p.K934K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	934	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGGGGATCCTTTCTCGCCAG	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						33	78					0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97221549	97221549	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:97221549A>C	ENST00000375344.3	+	12	1645	c.1376A>C	c.(1375-1377)cAa>cCa	p.Q459P	HIATL1_ENST00000428393.2_3'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	459					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGTGGAGTTCAAAAACACAGT	0.502000													4	42					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958974	10958974	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:10958974G>A	ENST00000240615.2	-	1	918	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	202					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTACTAAAAGGAAAAATGATA	0.373000													25	23					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55398982	55398982	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:55398982C>T	ENST00000536015.1	-	2	177	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E20K	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	20					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGAACCACTTCGTCATTAGGC	0.443000													81	12					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124538	142124538	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142124538C>T	ENST00000390376.2	-	0	27																											AGAGAAAAGGCCGCACAGCAC	0.602000													35	54					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41038933	41038933	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41038933C>T	ENST00000399564.4	-	21	2569	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T	MROH2B_ENST00000506092.2_Missense_Mutation_p.A262T	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGGCCACTGCTCCATAGATG	0.463000													58	15					0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482129	152482129	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:152482129G>A	ENST00000356661.5	-	3	1100	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	294	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGATGGGAAGAAAAAGC	0.552000													93	2					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254664	61254664	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:61254664C>T	ENST00000338608.2	+	11	1120	c.995C>T	c.(994-996)cCc>cTc	p.P332L	PPP1R32_ENST00000432063.2_Missense_Mutation_p.P312L	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	332																	GTCCGGAGCCCCTGTGATCCT	0.542000													86	99					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530708	140530708	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140530708C>T	ENST00000231136.1	+	1	870	c.870C>T	c.(868-870)ttC>ttT	p.F290F	PCDHB6_ENST00000543635.1_Silent_p.F154F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		290	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAACCCTTCGAAATAAACG	0.458000													23	31					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19329828	19329828	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:19329828C>T	ENST00000252575.5	+	3	221	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	60	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCTGCCCTGTCTCTTTACCCT	0.647000													25	29					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132352079	132352079	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:132352079A>C	ENST00000310125.4	-	1	297	c.209T>G	c.(208-210)aTc>aGc	p.I70S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	70						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TACCACAGGGATGTTTGATGC	0.537000													16	28					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101237502	101237502	+	Missense_Mutation	SNP	C	C	A	rs139376770		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101237502C>A	ENST00000388798.2	+	14	1981	c.1790C>A	c.(1789-1791)cCg>cAg	p.P597Q	SPAG1_ENST00000523302.1_3'UTR|SPAG1_ENST00000251809.3_Missense_Mutation_p.P597Q	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	597					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCTTGGCATCCGGCAAAAGAG	0.517000													23	24					6.12954e-19	6.1809e-19	1	1	0
A4GALT	53947	broad.mit.edu	37	22	43089082	43089082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:43089082C>T	ENST00000401850.1	-	2	1365	c.876G>A	c.(874-876)tgG>tgA	p.W292*	A4GALT_ENST00000249005.2_Nonsense_Mutation_p.W292*|A4GALT_ENST00000381278.3_Nonsense_Mutation_p.W292*			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	292					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTACTTCTTCCAGTCCTGCC	0.647000													9	16					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947394	45947394	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45947394T>G	ENST00000323084.4	-	7	995	c.930A>C	c.(928-930)gaA>gaC	p.E310D	TSPEAR_ENST00000397916.1_Missense_Mutation_p.E242D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	310					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGTCCAGTCTTTCTTTGGCTT	0.537000													7	81					0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800309	32800309	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:32800309T>C	ENST00000329421.7	-	2	822	c.477A>G	c.(475-477)gcA>gcG	p.A159A		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	159						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CACTAGCCTCTGCCCCCTTGG	0.682000													6	87					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65828153	65828153	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65828153A>G	ENST00000528302.1	+	13	1733	c.1679A>G	c.(1678-1680)aAg>aGg	p.K560R	SF3B2_ENST00000322535.6_Missense_Mutation_p.K577R			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	577					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCCTTCTTCAAGTGGCAGACC	0.517000													13	84					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618973	175618973	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:175618973C>T	ENST00000348749.5	-	5	591	c.514G>A	c.(514-516)Gac>Aac	p.D172N	CHRNA1_ENST00000409219.1_Missense_Mutation_p.D172N|CHRNA1_ENST00000261007.5_Missense_Mutation_p.D197N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.D90N|CHRNA1_ENST00000409323.1_Missense_Mutation_p.D172N	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	197					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						ACAGAGCCGTCGTAGGTCCAG	0.507000													43	28					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914275	75914275	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:75914275C>T	ENST00000296641.4	-	2	460	c.257G>A	c.(256-258)gGg>gAg	p.G86E	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.G64E|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	86					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGTCAGGTACCCCATGGTAGC	0.478000													31	48					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592584	83592584	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:83592584C>T	ENST00000265362.3	-	16	2111	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	SEMA3A_ENST00000436949.1_Silent_p.P599P	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	599	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity	p.P599P(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTGCGACTTCGGACTGCATT	0.438000													45	69					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058287	19058287	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:19058287T>C	ENST00000380502.3	-	16	2945	c.2478A>G	c.(2476-2478)tcA>tcG	p.S826S	HAUS6_ENST00000380496.1_Silent_p.S690S	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	826					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATTAAAGTCTGATTCTGGAG	0.443000													27	71					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243581	180243581	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:180243581G>A	ENST00000263726.2	+	6	1284	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCAGGGCAGGGAGTAAGCCAG	0.572000													59	239					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943723	11943723	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11943723A>C	ENST00000304060.5	+	4	1896	c.1732A>C	c.(1732-1734)Aac>Cac	p.N578H		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATGTGGGAAACCCTTCGGA	0.458000													5	74					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876912	21876912	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:21876912C>T	ENST00000399982.2	-	11	2501	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	CHD8_ENST00000557364.1_Missense_Mutation_p.E813K|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.E534K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	813					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACTGATATTCCCGTAGCTGG	0.383000													6	5					0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201887578	201887578	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:201887578T>G	ENST00000418596.2	-	4	316	c.129A>C	c.(127-129)aaA>aaC	p.K43N	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	43						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGAATAACTTTATAGAGGG	0.328000													11	38					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318786	21318786	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:21318786C>T	ENST00000583088.1	+	3	1027	c.132C>T	c.(130-132)aaC>aaT	p.N44N	KCNJ12_ENST00000331718.5_Silent_p.N44N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGTGCCGCAACCGCTTCGTCA	0.607000										Prostate(3;0.18)			5	38					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124207093	124207093	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124207093G>A	ENST00000360013.3	+	29	4448	c.4321G>A	c.(4321-4323)Gat>Aat	p.D1441N	KALRN_ENST00000460856.1_Missense_Mutation_p.D1432N|KALRN_ENST00000240874.3_Missense_Mutation_p.D1441N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1441	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGCTCAAGGATGGCCTGGA	0.532000													37	43					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96959084	96959084	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:96959084G>A	ENST00000323853.5	-	15	2083	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	669	Helicase ATP-binding 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACCCTTGGCAGGGTCAACACG	0.483000													29	53					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057121	95057121	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:95057121A>G	ENST00000329597.7	+	5	1136	c.926A>G	c.(925-927)gAg>gGg	p.E309G	SERPINA5_ENST00000554866.1_Missense_Mutation_p.E309G|SERPINA5_ENST00000554276.1_Missense_Mutation_p.E309G|SERPINA5_ENST00000553780.1_Missense_Mutation_p.E309G	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	309					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTCCATTGAGGGCTCCTAT	0.522000													10	30					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407529	46407529	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46407529T>C	ENST00000433765.2	-	1	578	c.579A>G	c.(577-579)ccA>ccG	p.P193P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	193					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGGTCACTGCTGGGTTGGACA	0.592000													5	14					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15988024	15988024	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:15988024A>G	ENST00000345034.1	+	1	1661	c.1661A>G	c.(1660-1662)gAa>gGa	p.E554G	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	554					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAATATGAACCACCTACC	0.453000													52	215					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147806819	147806819	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:147806819C>T	ENST00000340253.5	+	15	2130	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Silent_p.S654S			Q6PIJ6	FBX38_HUMAN	F-box protein 38	654						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACAACTCCCATCAGATGG	0.463000													8	5					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089716	86089716	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:86089716G>A	ENST00000330753.4	+	2	2625	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R	FLRT2_ENST00000554746.1_Missense_Mutation_p.G620R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	620					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTCCTTAAAGGAGATTTCAG	0.468000													141	173					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125441354	125441354	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:125441354G>A	ENST00000308736.2	-	18	2434	c.2336C>T	c.(2335-2337)cCc>cTc	p.P779L	DHX37_ENST00000544745.1_Missense_Mutation_p.P566L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	779							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGTGCCACGGGGAATGTGGC	0.642000													82	8					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57966372	57966372	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57966372C>T	ENST00000455537.2	+	15	1853	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	KIF5A_ENST00000286452.5_Silent_p.L438L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	527					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGCCACCATGCTGTCCCTGGA	0.602000													29	2					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821244	151821244	+	Missense_Mutation	SNP	C	C	T	rs138966264		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:151821244C>T	ENST00000370306.2	+	9	1419	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	467						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGGTGTTCGCTTTAATGG	0.562000													68	3					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42689003	42689003	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:42689003G>A	ENST00000230882.4	+	4	338	c.148G>A	c.(148-150)Gag>Aag	p.E50K	GHR_ENST00000357703.3_Missense_Mutation_p.E28K|GHR_ENST00000537449.1_Intron	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	50					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)	TTCTTCTAAGGAGCCTAAATT	0.423000													42	292					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405230	7405230	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:7405230C>T	ENST00000322644.6	+	15	2760	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	787					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCATTGCTGTCGTTGGACAGC	0.512000													57	6					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810472	140810472	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140810472C>T	ENST00000252085.3	+	1	288	c.146C>T	c.(145-147)tCc>tTc	p.S49F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGACATCTCCAGGGACCTG	0.647000													50	45					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625809	140625809	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140625809C>T	ENST00000231173.3	+	1	663	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		221	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P221P(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTCCACCCCGATCTGGCA	0.592000													6	7					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790152	78790152	+	Missense_Mutation	SNP	G	G	A	rs4281168		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:78790152G>A	ENST00000376767.3	+	14	2519	c.2007G>A	c.(2005-2007)atG>atA	p.M669I	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatgaaatggaatg	0.403000													6	3					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609959	95609959	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:95609959G>A	ENST00000395505.2	-	3	1094	c.1002C>T	c.(1000-1002)aaC>aaT	p.N334N	ZNF484_ENST00000332591.6_Silent_p.N334N|ZNF484_ENST00000395506.3_Silent_p.N372N|ZNF484_ENST00000375495.3_Silent_p.N370N|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTATATTAAGGTTTGAATTCT	0.353000													8	25					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216159	11216159	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:11216159G>A	ENST00000558518.1	+	4	764	c.577G>A	c.(577-579)Gac>Aac	p.D193N	LDLR_ENST00000535915.1_Missense_Mutation_p.D152N|LDLR_ENST00000558013.1_Missense_Mutation_p.D193N|LDLR_ENST00000557933.1_Missense_Mutation_p.D193N|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	193					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTTCCAAGGGGACAGTAGCCC	0.627000													30	33					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004336	102004336	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:102004336A>C	ENST00000372735.1	+	4	998	c.413A>C	c.(412-414)gAt>gCt	p.D138A	BHLHB9_ENST00000361229.4_Missense_Mutation_p.D138A|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D138A|BHLHB9_ENST00000447531.1_Missense_Mutation_p.D138A|BHLHB9_ENST00000457056.1_Missense_Mutation_p.D138A			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	138						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTAAGAATGATAAACCTGAA	0.537000													37	30					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087485	49087485	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49087485T>C	ENST00000261900.3	-	9	1734	c.1512A>G	c.(1510-1512)cgA>cgG	p.R504R		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	504					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTTTGTGCTCTCGGCTCTTTG	0.433000													49	566					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075972	66075972	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:66075972T>G	ENST00000349533.6	+	14	2173	c.1988T>G	c.(1987-1989)cTt>cGt	p.L663R	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.L663R|LEPR_ENST00000371059.3_Missense_Mutation_p.L663R|LEPR_ENST00000371060.3_Missense_Mutation_p.L663R|LEPR_ENST00000344610.8_Missense_Mutation_p.L663R	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	663	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTCACTTTACTTTGGAAGGTA	0.279000													3	33					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566679	136566679	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:136566679G>A	ENST00000264162.2	-	8	3248	c.3238C>T	c.(3238-3240)Ccc>Tcc	p.P1080S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1080	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACCCCTGGGGGAAATTCCCCT	0.498000													9	28					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249693	238249693	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:238249693G>A	ENST00000295550.4	-	38	8318	c.7866C>T	c.(7864-7866)ttC>ttT	p.F2622F	COL6A3_ENST00000353578.4_Silent_p.F2416F|COL6A3_ENST00000347401.3_Silent_p.F2421F|COL6A3_ENST00000346358.4_Silent_p.F2422F|COL6A3_ENST00000472056.1_Silent_p.F2015F|COL6A3_ENST00000409809.1_Silent_p.F2416F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2622	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTCTAAGATGAAAGCCATGT	0.532000													113	67					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969850	200969850	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:200969850C>T	ENST00000332129.2	-	10	1777	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	KIF21B_ENST00000422435.2_Silent_p.E487E|KIF21B_ENST00000360529.5_Silent_p.E487E|KIF21B_ENST00000461742.2_Silent_p.E487E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	487					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCACCGTAGCTCCTCGATCT	0.637000													33	35					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160602335	160602335	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160602335C>T	ENST00000259050.3	+	4	523	c.401C>T	c.(400-402)tCa>tTa	p.S134L	MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000409175.1_Missense_Mutation_p.S134L|MARCH7_ENST00000409591.1_Missense_Mutation_p.S96L	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	134	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTACTTGGATCATTTGGAACA	0.358000													14	8					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47615007	47615007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:47615007C>T	ENST00000371917.4	+	25	3397	c.3397C>T	c.(3397-3399)Cga>Tga	p.R1133*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1133					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACAGTGGTCTCGAATATGGCA	0.388000													29	45					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50031825	50031825	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:50031825G>A	ENST00000376042.1	+	4	440	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CCNB3_ENST00000276014.7_Missense_Mutation_p.E48K|CCNB3_ENST00000376038.1_Missense_Mutation_p.E48K|CCNB3_ENST00000348603.2_Missense_Mutation_p.E48K			Q8WWL7	CCNB3_HUMAN	cyclin B3	48					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTCACTTCAGGAGTCTCCATC	0.403000													14	1					0	0	1	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18500331	18500331	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18500331A>C	ENST00000280706.2	+	7	1710	c.913A>C	c.(913-915)Aaa>Caa	p.K305Q	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.K305Q|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	305					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.K305Q(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	AGACCTCATAAAAGTAAAACT	0.393000													6	233					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038280	14038280	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:14038280A>C	ENST00000380523.4	-	4	707	c.389T>G	c.(388-390)gTa>gGa	p.V130G	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.V130G	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	130					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTCACATTCTACCTCTGCATC	0.498000													48	107					0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236538	207236538	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207236538A>G	ENST00000367080.3	+	5	483	c.359A>G	c.(358-360)gAg>gGg	p.E120G	PFKFB2_ENST00000411990.2_Missense_Mutation_p.E22G|PFKFB2_ENST00000367079.2_Missense_Mutation_p.E120G|PFKFB2_ENST00000545806.1_Missense_Mutation_p.E87G	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	120	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CTCACTGAGGAGAATGGTCAG	0.532000													11	65					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96130030	96130030	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:96130030C>T	ENST00000467865.1	+	0	438				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GGACTTTAATCTTAAGTGGAC	0.423000			T	TRA@	T-ALL								8	7					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104216268	104216268	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104216268G>A	ENST00000202556.9	-	8	1114	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	278	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGTTGGTTACGAATCTACAAA	0.358000													19	32					0	0	1	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390459	38390459	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:38390459C>T	ENST00000329553.2	+	4	735	c.525C>T	c.(523-525)ctC>ctT	p.L175L	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		AGGGTCCGCTCCCTCAAGGTG	0.622000													40	47					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936775	150936775	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:150936775T>G	ENST00000392811.2	-	12	1666	c.1192A>C	c.(1192-1194)Agc>Cgc	p.S398R	SMARCD3_ENST00000262188.8_Missense_Mutation_p.S411R|SMARCD3_ENST00000356800.2_Missense_Mutation_p.S398R	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	411					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGAGAAGCTTAGCATGAAG	0.522000													15	86					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883842	152883842	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152883842G>A	ENST00000368764.3	+	2	1633	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	IVL_ENST00000392667.2_Silent_p.L377L			P07476	INVO_HUMAN	involucrin	523	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			taaaacatctggagcagcagg	0.592000													8	7					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485124	56485124	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:56485124G>A	ENST00000291971.3	+	7	2712	c.2641G>A	c.(2641-2643)Gat>Aat	p.D881N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D862N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	881						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGCCTTGAAAGATGAAGGGGC	0.502000													73	149					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38305217	38305217	+	RNA	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:38305217T>C	ENST00000443402.2	-	0	62					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TGGAGCTTTGTTTCAGCAATT	0.363000													5	285					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049054	42049054	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:42049054T>C	ENST00000372584.1	-	3	2429	c.1415A>G	c.(1414-1416)aAc>aGc	p.N472S	HIVEP3_ENST00000372583.1_Missense_Mutation_p.N472S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.N472S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.N472S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	472	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACGGCCTCGTTGATGGTGAT	0.617000													12	84					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183274	55183274	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:55183274C>T	ENST00000337714.3	+	2	682	c.449C>T	c.(448-450)tCa>tTa	p.S150L	AKAP1_ENST00000314126.3_Missense_Mutation_p.S150L|AKAP1_ENST00000572557.1_Missense_Mutation_p.S150L|AKAP1_ENST00000571629.1_Missense_Mutation_p.S150L|AKAP1_ENST00000539273.1_Missense_Mutation_p.S150L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	150					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGCCCCCTTTCATCCCCAAAG	0.537000													36	2					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148495081	148495081	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:148495081C>T	ENST00000325222.4	+	19	2279	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	CUL1_ENST00000409469.1_Missense_Mutation_p.T667I|CUL1_ENST00000602748.1_Missense_Mutation_p.T667I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	667					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGCCAGATACCTTAATAAAA	0.383000													16	23					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47866971	47866971	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:47866971C>T	ENST00000289672.2	-	45	6881	c.6831G>A	c.(6829-6831)gaG>gaA	p.E2277E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2277					cell-cell adhesion	integral to membrane		p.E2277E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGTGCGACTCTCTCTCCTCA	0.662000													26	41					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774743	24774743	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:24774743G>A	ENST00000221166.5	+	3	2157	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E459K|NEFM_ENST00000437366.2_Missense_Mutation_p.E459K|NEFM_ENST00000433454.2_Missense_Mutation_p.E83K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	459	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GATCATAGAGGAAACCAAAGT	0.468000													20	38					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511296	4511296	+	Silent	SNP	A	A	G	rs71263980		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4511296A>G	ENST00000301286.3	-	3	2633	c.2634T>C	c.(2632-2634)acT>acC	p.T878T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	878	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTTTAGTGCCAGTCAGGACAG	0.607000													21	146					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55178873	55178873	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:55178873G>A	ENST00000396834.1	+	7	895	c.397_splice	c.e7-1	p.A133_splice	IL31RA_ENST00000447346.2_Splice_Site_p.A152_splice|IL31RA_ENST00000396836.2_Splice_Site_p.A152_splice|IL31RA_ENST00000359040.5_Splice_Site_p.A152_splice|IL31RA_ENST00000490985.1_Splice_Site_p.A10_splice|IL31RA_ENST00000354961.4_Splice_Site_p.A133_splice|IL31RA_ENST00000297015.3_Splice_Site_p.A10_splice	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	120	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TATTTTCAGCGAAAACTGAAC	0.358000													17	12					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77411876	77411876	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:77411876T>A	ENST00000308488.6	-	6	2700	c.2398A>T	c.(2398-2400)Aga>Tga	p.R800*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.R548*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R769*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	800					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCTTCCCCTCTTTTTTTATCA	0.368000													5	78					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777515	141777515	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141777515C>T	ENST00000389484.3	-	12	2917	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	649					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCACAATTCCTCTGGGATG	0.358000										TSP Lung(27;0.18)			42	29					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49155497	49155497	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49155497G>A	ENST00000453664.1	-	3	499	c.181C>T	c.(181-183)Cct>Tct	p.P61S	USP19_ENST00000434032.2_Missense_Mutation_p.P61S|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398892.3_Intron|USP19_ENST00000417901.1_Missense_Mutation_p.P61S|USP19_ENST00000398898.2_Intron|USP19_ENST00000398888.2_Missense_Mutation_p.P61S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	61					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		gaggcagaaggatcacctgag	0.522000													7	14					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89861861	89861861	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:89861861G>A	ENST00000287908.3	+	5	1789	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	STEAP2_ENST00000394621.2_Missense_Mutation_p.E466K|STEAP2_ENST00000394626.1_Intron|STEAP2_ENST00000394622.2_Missense_Mutation_p.E466K|STEAP2_ENST00000394629.2_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	466					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAAAGGCTGGGAAAAGAGCCA	0.413000													7	25					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334895	71334895	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:71334895T>G	ENST00000392650.3	-	45	6350	c.6350A>C	c.(6349-6351)aAc>aCc	p.N2117T	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.N2098T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2117					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTGGTGCTGTTGGTGACGGT	0.647000													4	25					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866336	23866336	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:23866336T>A	ENST00000269142.5	+	7	2461	c.1463T>A	c.(1462-1464)gTt>gAt	p.V488D	TAF4B_ENST00000400466.2_Missense_Mutation_p.V488D|TAF4B_ENST00000578121.1_Missense_Mutation_p.V488D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	488					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAACCTGTTGTTTCTTCTGCT	0.488000													7	101					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122766751	122766751	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:122766751C>A	ENST00000264499.4	-	11	1321	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	BBS7_ENST00000506636.1_Missense_Mutation_p.G380C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	380					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCATTTATACCAAAGGAAGGT	0.343000									Bardet-Biedl syndrome				8	27					5.18039e-06	5.19179e-06	1	1	0
SLC25A18	83733	broad.mit.edu	37	22	18072879	18072879	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18072879G>A	ENST00000327451.5	+	11	1363	c.825G>A	c.(823-825)gaG>gaA	p.E275E	SLC25A18_ENST00000399813.1_Silent_p.E275E	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	275						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGATTCAGGAGGGACCATCTG	0.552000													41	49					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175331899	175331899	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:175331899G>A	ENST00000367674.1	-	14	3462	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	TNR_ENST00000263525.2_Silent_p.F918F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	918	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGATGGTGAATTCTGTCA	0.517000													51	49					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44488692	44488692	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:44488692C>T	ENST00000398165.3	-	4	502	c.243G>A	c.(241-243)ctG>ctA	p.L81L	CBS_ENST00000359624.3_Silent_p.L81L|CBS_ENST00000352178.5_Silent_p.L81L|CBS_ENST00000398168.1_Silent_p.L81L|CBS_ENST00000398158.1_Silent_p.L81L|CBS_ENST00000544202.1_5'UTR|CBS_ENST00000470912.1_5'UTR	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	81					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGATTTTCTTCAGAATATCTG	0.453000													33	39					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405206	105405206	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:105405206T>G	ENST00000351513.2	-	8	1381	c.1249A>C	c.(1249-1251)Aaa>Caa	p.K417Q	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	417					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGATGAGTTTTTGCTGAGATA	0.373000													4	71					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332638	130332638	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:130332638G>A	ENST00000299164.2	+	4	1505	c.1505G>A	c.(1504-1506)gGg>gAg	p.G502E		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	502	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGCCTCAAAGGGGCCTGCGTG	0.662000													26	52					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234527191	234527191	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:234527191G>A	ENST00000373450.4	+	1	901	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGCCATCAGGGAAAGCCATT	0.403000													129	75					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212677	10212677	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10212677C>T	ENST00000418404.3	-	34	5206	c.5043G>A	c.(5041-5043)agG>agA	p.R1681R	MYH13_ENST00000252172.4_Silent_p.R1681R|MYH13_ENST00000570743.1_Silent_p.R1681R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1681					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGAGGCCATTCCTGCGCTCCA	0.642000													16	18					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70336455	70336455	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:70336455G>C	ENST00000338508.4	-	30	2479	c.2480C>G	c.(2479-2481)cCc>cGc	p.P827R	SHANK2_ENST00000423696.2_Missense_Mutation_p.P447R|SHANK2_ENST00000449833.2_Missense_Mutation_p.P231R|SHANK2_ENST00000409530.1_Missense_Mutation_p.P237R|SHANK2_ENST00000409161.1_Missense_Mutation_p.P230R|SHANK2_ENST00000357171.3_Missense_Mutation_p.P238R|SHANK2_ENST00000449116.2_Missense_Mutation_p.P228R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	447					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGAACAGTGGGCGTCATCAC	0.602000													36	53					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108536385	108536385	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:108536385A>C	ENST00000263054.6	-	4	799	c.792T>G	c.(790-792)acT>acG	p.T264T	SORCS1_ENST00000344440.6_Silent_p.T264T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	264						integral to membrane	neuropeptide receptor activity|protein binding	p.T264T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTTTTGATAAGTTGCCCCTT	0.423000													16	33					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416641	145416641	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145416641G>A	ENST00000336751.5	+	4	1224	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	HFE2_ENST00000357836.5_Missense_Mutation_p.R216Q|HFE2_ENST00000475797.1_Missense_Mutation_p.R103Q|HFE2_ENST00000497365.1_Missense_Mutation_p.R103Q	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	329					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGACTCTCTCGATCAGAGCGC	0.552000													34	24					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30525216	30525216	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30525216A>T	ENST00000375938.4	+	13	1275	c.1022A>T	c.(1021-1023)aAt>aTt	p.N341I	TTLL9_ENST00000310998.4_Missense_Mutation_p.N306I|TTLL9_ENST00000375921.2_Missense_Mutation_p.Q217H|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000535842.1_Missense_Mutation_p.N341I|TTLL9_ENST00000375922.4_Missense_Mutation_p.N283I			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	341	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGAGGTCAATGCGTCCCCA	0.572000													32	38					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38525359	38525359	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:38525359T>G	ENST00000399017.2	+	27	5269	c.2522T>G	c.(2521-2523)cTt>cGt	p.L841R	TTC3_ENST00000355666.1_Missense_Mutation_p.L841R|TTC3_ENST00000354749.2_Missense_Mutation_p.L841R|TTC3_ENST00000540756.1_Missense_Mutation_p.L531R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	841					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACAGCCATGCTTCTCAAAGAA	0.368000													7	72					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841699	8841699	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8841699C>T	ENST00000324060.2	+	1	384	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAATATTCTTCCTCACACTGA	0.532000													27	33					0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44452672	44452672	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:44452672T>G	ENST00000372557.1	-	6	571	c.364A>C	c.(364-366)Aaa>Caa	p.K122Q	TNNC2_ENST00000372555.3_Missense_Mutation_p.K137Q			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	137	EF-hand 3.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				TCGCCGTCTTTCATCAGAGAT	0.622000													34	134					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22881186	22881186	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:22881186G>A	ENST00000400546.1	+	16	2341	c.2092G>A	c.(2092-2094)Ggt>Agt	p.G698S	NCAM2_ENST00000284894.7_Missense_Mutation_p.G556S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	698					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.G698C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTGTTTAATGGTCTTGGGCT	0.333000													16	12					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132198079	132198079	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:132198079A>G	ENST00000378673.2	-	3	1433	c.567T>C	c.(565-567)acT>acC	p.T189T	GDF9_ENST00000296875.2_Silent_p.T189T|GDF9_ENST00000464378.1_5'UTR			O60383	GDF9_HUMAN	growth differentiation factor 9	189					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTGCCGAGAGTCCTGCTAG	0.403000													28	33					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825649	20825649	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:20825649G>A	ENST00000328879.4	-	3	537	c.381C>T	c.(379-381)gcC>gcT	p.A127A	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	127					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAAGCTGGCAGGCAGCCACCA	0.552000													29	30					0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76518191	76518191	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:76518191T>C	ENST00000557943.1	-	11	1042	c.963_splice	c.e11+1	p.K321_splice	ETFA_ENST00000433983.2_Splice_Site_p.K272_splice|ETFA_ENST00000560726.1_Splice_Site_p.K61_splice|ETFA_ENST00000559602.1_Splice_Site_p.K217_splice	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	321					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CCAGCTTACCTTAAATAAATC	0.353000													47	5					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505054	102505054	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:102505054T>A	ENST00000360184.4	+	59	11239	c.11075T>A	c.(11074-11076)cTc>cAc	p.L3692H	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3692	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCACCAGATCTCTGTTCCCGG	0.453000													36	90					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69114917	69114917	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:69114917A>T	ENST00000229179.4	+	15	1603	c.1271A>T	c.(1270-1272)gAg>gTg	p.E424V	NUP107_ENST00000378905.2_Missense_Mutation_p.E273V|NUP107_ENST00000539906.1_Missense_Mutation_p.E395V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	424					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATAGATACGAGAGAGCAATT	0.274000													5	189					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3009616	3009616	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3009616G>A	ENST00000262953.6	-	13	1359	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	TLE2_ENST00000443826.3_Missense_Mutation_p.S244F|TLE2_ENST00000426948.2_Missense_Mutation_p.S380F|TLE2_ENST00000591529.1_Missense_Mutation_p.S380F|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.S367F|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.S244F	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	366	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCACGGAGAGGTCTCC	0.657000													17	15					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170238972	170238972	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:170238972G>A	ENST00000518525.1	+	11	1497	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	GABRP_ENST00000519385.1_Missense_Mutation_p.G282E|GABRP_ENST00000265294.4_Missense_Mutation_p.E345K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	345						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAACAAAGGAAGTAGAAGA	0.378000													25	44					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764132	92764132	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:92764132C>T	ENST00000318238.4	-	5	2369	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	SAMD9L_ENST00000437805.1_Missense_Mutation_p.G385R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G385R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	385										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCTTCATTCCATACTCTTCT	0.393000													143	8					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231380223	231380223	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:231380223T>G	ENST00000264052.5	+	25	2863	c.2508T>G	c.(2506-2508)taT>taG	p.Y836*	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	836					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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)		ttgctgcatatcgagctaaag	0.403000													5	11					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:3443759G>A	ENST00000520002.1	-	10	1679	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	CSMD1_ENST00000537824.1_Missense_Mutation_p.S374L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S374L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S375L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S374L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S375L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S375L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	375	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCTCACATGAAAACTGTAC	0.408000													5	10					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43014734	43014734	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43014734T>A	ENST00000535468.1	-	10	2619	c.2533A>T	c.(2533-2535)Aag>Tag	p.K845*	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Nonsense_Mutation_p.K761*	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	761	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGGTGCTTTTCCAGGGCC	0.557000													39	149					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580161	161580161	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161580161T>C	ENST00000356592.3	+	10	1675	c.1215T>C	c.(1213-1215)ctT>ctC	p.L405L	GABRG2_ENST00000414552.2_Silent_p.L445L|GABRG2_ENST00000361925.4_Silent_p.L397L|GABRG2_ENST00000393933.4_Silent_p.L302L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	397					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTACACACCTTCAAGAGAGAG	0.483000													16	20					0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738874	43738874	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43738874T>C	ENST00000432792.2	+	4	1051	c.481T>C	c.(481-483)Ttg>Ctg	p.L161L	TMEM125_ENST00000439858.1_Silent_p.L161L			Q96AQ2	TM125_HUMAN	transmembrane protein 125	161						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCTCGCTTTTGCTGCTGGG	0.692000													11	63					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1519155	1519155	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:1519155T>G	ENST00000389470.4	-	32	4836	c.4837A>C	c.(4837-4839)Agc>Cgc	p.S1613R	INTS1_ENST00000404767.3_Missense_Mutation_p.S1414R			Q8N201	INT1_HUMAN	integrator complex subunit 1	1414					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTGGGGAGCTGAGCAGGGTG	0.716000													4	12					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724893	158724893	+	Silent	SNP	C	C	T	rs141924378	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:158724893C>T	ENST00000368144.2	+	1	384	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCCTCTCCTTCCTGGAGATCT	0.493000													65	87					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992776	66992776	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:66992776G>A	ENST00000276570.5	+	5	785	c.498G>A	c.(496-498)atG>atA	p.M166I	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	166					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGTCTGACATGGAAAAAGGTG	0.547000													3	6					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905118	15905118	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15905118C>T	ENST00000308940.8	+	1	358	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GACCTGCTGTCCACCCAGCGC	0.602000													38	46					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487421	248487421	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:248487421G>A	ENST00000317965.2	-	1	478	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAGCCCAGGATCCAGGAGA	0.478000													121	141					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	G	A	rs148196865		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140181759G>A	ENST00000522353.2	+	1	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G326E	NM_018906.2	NP_061729.1												p.G326E(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378000													29	33					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524652	161524652	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:161524652T>C	ENST00000356592.3	+	4	796	c.336T>C	c.(334-336)acT>acC	p.T112T	GABRG2_ENST00000414552.2_Silent_p.T112T|GABRG2_ENST00000361925.4_Silent_p.T112T|GABRG2_ENST00000393933.4_Silent_p.T17T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	112					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGGAATACACTATTGATATAT	0.308000													6	19					0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205660	88205660	+	Missense_Mutation	SNP	C	C	T	rs143863539		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:88205660C>T	ENST00000318887.3	+	3	1175	c.865C>T	c.(865-867)Cca>Tca	p.P289S	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	289					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATTACCGAAACCATCTGTTAA	0.388000													20	23					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74512815	74512815	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:74512815C>T	ENST00000394009.3	+	6	752	c.629C>T	c.(628-630)gCc>gTc	p.A210V	CCDC176_ENST00000553773.1_Intron|CCDC176_ENST00000489323.1_3'UTR|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		GCAGAGAGAGCCCACCATGAG	0.403000													7	9					0	0	1	0	0
GPR3	2827	broad.mit.edu	37	1	27721270	27721270	+	Missense_Mutation	SNP	G	G	A	rs149104107		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27721270G>A	ENST00000374024.3	+	2	1067	c.968G>A	c.(967-969)cGa>cAa	p.R323Q		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	323					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCCCTTCCGATCCCGCTCC	0.517000													144	113					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296655	47296655	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47296655T>C	ENST00000342922.4	+	3	961	c.604T>C	c.(604-606)Tgc>Cgc	p.C202R	MADD_ENST00000407859.3_Missense_Mutation_p.C202R|MADD_ENST00000349238.3_Missense_Mutation_p.C202R|MADD_ENST00000402799.1_Missense_Mutation_p.C202R|MADD_ENST00000406482.1_Missense_Mutation_p.C202R|MADD_ENST00000395336.3_Missense_Mutation_p.C202R|MADD_ENST00000402192.2_Missense_Mutation_p.C202R|MADD_ENST00000311027.5_Missense_Mutation_p.C202R|MADD_ENST00000395344.3_Missense_Mutation_p.C202R	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	202	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTGGTGGACTGCTGTAGTGA	0.537000													13	76					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3723980	3723980	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:3723980A>C	ENST00000324932.7	-	23	3645	c.3225T>G	c.(3223-3225)acT>acG	p.T1075T	NUP98_ENST00000355260.3_Silent_p.T1075T|NUP98_ENST00000359171.4_Silent_p.T1075T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1092					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGAACACAGAAGTCAGGGGTG	0.512000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								14	51					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097034	69097034	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:69097034G>A	ENST00000332644.5	-	7	734	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	191	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCCCCTCCAGGGAGCTTTTTC	0.498000													17	24					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45533653	45533653	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:45533653C>T	ENST00000291576.7	+	3	278	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	51						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGACACGCTGCCCCTGGCCAC	0.587000													33	34					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315029	67315029	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:67315029T>G	ENST00000360461.5	+	4	3290	c.755T>G	c.(754-756)gTt>gGt	p.V252G	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.V252G|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.V252G|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.V171G	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	252					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACAGTGCTAGTTGATGCCCGA	0.517000													21	60					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235571	127235571	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:127235571A>G	ENST00000265825.5	+	2	574	c.355A>G	c.(355-357)Aat>Gat	p.N119D	FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	119						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTGGAGTCCAATGGCAAGGA	0.572000													33	26					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543499	178543499	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:178543499G>A	ENST00000432997.1	+	3	532	c.180G>A	c.(178-180)atG>atA	p.M60I	RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.M60I|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M60I|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M60I|RP11-385J1.2_ENST00000451742.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	60					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCCATCATGATGTATTTTC	0.527000													242	117					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25054776	25054776	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:25054776C>T	ENST00000261192.7	-	2	576	c.50G>A	c.(49-51)gGa>gAa	p.G17E	BCAT1_ENST00000342945.5_Intron|BCAT1_ENST00000538118.1_Missense_Mutation_p.G16E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G17E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G29E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	17					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTCTTTTGATCCTCCTTCTCC	0.453000													16	18					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569202	49569202	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:49569202C>T	ENST00000545947.1	+	6	1980	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	DAG1_ENST00000308775.2_Missense_Mutation_p.P420S|DAG1_ENST00000541308.1_Missense_Mutation_p.P420S|DAG1_ENST00000539901.1_Missense_Mutation_p.P420S|DAG1_ENST00000538711.1_Missense_Mutation_p.P420S|DAG1_ENST00000515359.2_Missense_Mutation_p.P420S	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	420	Mucin-like domain.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCTACCCCTCCCACAACCAC	0.572000													14	40					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275739	71275739	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71275739A>G	ENST00000399575.2	+	3	868	c.694A>G	c.(694-696)Agc>Ggc	p.S232G		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	232					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AACTATATTAAGCAGCCCAGC	0.378000													44	15					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924451	88924451	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:88924451C>T	ENST00000263321.5	+	2	1403	c.901C>T	c.(901-903)Cct>Tct	p.P301S	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	301					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACGGCGTAATCCTGGAAACCA	0.468000													71	5					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53691512	53691512	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:53691512G>A	ENST00000262135.4	-	13	1527	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	RPGRIP1L_ENST00000564374.1_Silent_p.S478S|RPGRIP1L_ENST00000563746.1_Silent_p.S478S|RPGRIP1L_ENST00000379925.3_Silent_p.S478S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	478					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCACTAAAAAGGAAAGGTCTC	0.308000													9	1					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341140	121341140	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121341140C>T	ENST00000338040.4	+	3	1278	c.864C>T	c.(862-864)gcC>gcT	p.A288A		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	288					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGGGCTTGCCCCTTGGCAGG	0.483000													88	1					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7137194	7137194	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:7137194T>G	ENST00000320892.6	+	3	577		c.e3+2		RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A							Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGTACTCTGGTTGGTCTTTTT	0.458000													13	45					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133167421	133167421	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:133167421A>G	ENST00000302334.2	+	3	750	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	RP11-91K8.1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	221	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTTGACTAAAATGGACCTGGA	0.428000													4	31					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884995	24884995	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24884995C>T	ENST00000382554.3	+	9	4358	c.4040C>T	c.(4039-4041)cCt>cTt	p.P1347L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1347					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCTGCTCCCCTTACACGCCA	0.607000													35	106					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890223	139890223	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:139890223T>A	ENST00000303045.6	-	3	874	c.428A>T	c.(427-429)aAg>aTg	p.K143M	COL22A1_ENST00000435777.1_Missense_Mutation_p.K143M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	143	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCACCTGCTTGTAGGCGCG	0.726000										HNSCC(7;0.00092)			3	8					0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968406	76968406	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76968406T>G	ENST00000262776.3	-	6	1318	c.1010A>C	c.(1009-1011)gAg>gCg	p.E337A	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	337	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCCACCTCCTCATGGGAGGC	0.642000													23	50					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726864	46726864	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46726864A>G	ENST00000311764.2	+	5	1844	c.1614A>G	c.(1612-1614)gaA>gaG	p.E538E		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTGCCTGAACTGCGGCGCC	0.677000													5	48					0	0	1	0	0
PHF11	51131	broad.mit.edu	37	13	50092191	50092191	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:50092191G>A	ENST00000357596.3	+	5	521	c.245G>A	c.(244-246)gGa>gAa	p.G82E	PHF11_ENST00000488958.1_Missense_Mutation_p.G82E|PHF11_ENST00000378319.3_Missense_Mutation_p.G121E	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		GCCACCGTGGGATGTGATTTA	0.348000													12	43					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61769192	61769192	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:61769192A>T	ENST00000361357.3	+	15	1855	c.1537A>T	c.(1537-1539)Agc>Tgc	p.S513C	MAP3K3_ENST00000577395.1_Missense_Mutation_p.S478C|MAP3K3_ENST00000361733.3_Missense_Mutation_p.S482C|MAP3K3_ENST00000584573.1_Missense_Mutation_p.S509C|MAP3K3_ENST00000579585.1_Missense_Mutation_p.S513C	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	482	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTACCTGCACAGCAACATGAT	0.572000													12	135					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538796	1538796	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1538796A>G	ENST00000263071.4	-	11	1798	c.1749T>C	c.(1747-1749)gcT>gcC	p.A583A	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.A497A	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	583	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTTGGCCCGAGCTAGGCTGG	0.677000													23	130					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349462	65349462	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:65349462T>C	ENST00000284037.5	+	21	2705	c.2316T>C	c.(2314-2316)acT>acC	p.T772T	ERBB2IP_ENST00000380935.1_Silent_p.T772T|ERBB2IP_ENST00000511297.1_Silent_p.T768T|ERBB2IP_ENST00000380938.2_Silent_p.T772T|ERBB2IP_ENST00000508515.1_Silent_p.T772T|ERBB2IP_ENST00000380936.1_Silent_p.T772T|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Silent_p.T772T|ERBB2IP_ENST00000380943.2_Silent_p.T772T|ERBB2IP_ENST00000506030.1_Silent_p.T772T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	772					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACTTATAACTAATGATACAT	0.328000													7	9					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098038	93098038	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:93098038G>A	ENST00000359558.2	-	8	863	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CALCR_ENST00000421592.1_Silent_p.F170F|CALCR_ENST00000360249.4_Silent_p.F170F|CALCR_ENST00000394441.1_Silent_p.F170F|CALCR_ENST00000426151.1_Silent_p.F170F	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	170					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGAAAAACACGAAAATCCCCA	0.398000													14	22					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39845455	39845455	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:39845455C>A	ENST00000502986.2	+	7	796	c.554C>A	c.(553-555)gCt>gAt	p.A185D	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Missense_Mutation_p.A172D	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	172					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTGGTGACTGCTTTGGTAGAG	0.463000													11	9					2.27111e-07	2.27861e-07	1	1	0
ADCY6	112	broad.mit.edu	37	12	49176868	49176868	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:49176868G>A	ENST00000307885.4	-	1	1044	c.350C>T	c.(349-351)tCc>tTc	p.S117F	ADCY6_ENST00000357869.3_Missense_Mutation_p.S117F|ADCY6_ENST00000550422.1_Missense_Mutation_p.S117F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	117					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGCCAGCAGGATCGCCCACT	0.667000													115	35					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152520238	152520238	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152520238C>T	ENST00000397345.3	-	45	5789	c.5587G>A	c.(5587-5589)Gag>Aag	p.E1863K	NEB_ENST00000603639.1_Missense_Mutation_p.E1863K|NEB_ENST00000172853.10_Missense_Mutation_p.E1863K|NEB_ENST00000604864.1_Missense_Mutation_p.E1863K|NEB_ENST00000427231.2_Missense_Mutation_p.E1863K|NEB_ENST00000409198.1_Missense_Mutation_p.E1863K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1863					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGATTTCTCATATCCCTTC	0.537000													8	16					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822656	121822656	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121822656T>G	ENST00000330540.2	+	3	478	c.362T>G	c.(361-363)aTt>aGt	p.I121S	CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.I39S|CD86_ENST00000393627.2_Missense_Mutation_p.I115S	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	121	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACAGGAATGATTCGCATCCAC	0.433000													17	104					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087701	92087701	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:92087701A>T	ENST00000298047.6	+	1	2440	c.2423A>T	c.(2422-2424)aAt>aTt	p.N808I	FAT3_ENST00000409404.2_Missense_Mutation_p.N808I|FAT3_ENST00000541502.1_Missense_Mutation_p.N808I|FAT3_ENST00000525166.1_Missense_Mutation_p.N658I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	808	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTTAGGTAATCCACAGAAA	0.403000										TCGA Ovarian(4;0.039)			31	4					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214629	3214629	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:3214629G>A	ENST00000380059.3	-	6	773	c.672C>T	c.(670-672)acC>acT	p.T224T	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.T197T|SLC4A11_ENST00000539553.1_Silent_p.T181T	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	197					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCCCTTGGATGGTATCTGACA	0.657000													50	66					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85456745	85456745	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:85456745G>A	ENST00000316356.4	-	4	888	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SYTL2_ENST00000524452.1_Silent_p.F108F|SYTL2_ENST00000527523.1_Silent_p.F60F|SYTL2_ENST00000528231.1_Silent_p.F108F|SYTL2_ENST00000389960.4_Silent_p.F108F			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	108					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGGAGGAAGGAAAGCATCTT	0.498000													49	4					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1755366	1755366	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:1755366C>T	ENST00000381241.3	+	8	1022	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	ASMT_ENST00000381233.3_Silent_p.L200L|ASMT_ENST00000381229.4_Silent_p.L247L	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	247					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAAGCTGATCTGTACATCCT	0.542000													96	101					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27180345	27180345	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:27180345G>A	ENST00000380036.4	+	7	1451	c.1009G>A	c.(1009-1011)Ggg>Agg	p.G337R	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Intron	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	337	EGF-like 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGGATGGCAGGGGCTCCAGTG	0.512000													4	20					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649358	154649358	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:154649358C>T	ENST00000347063.4	-	4	774		c.e4+1		RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175							integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GGAATACATACCGTGGTGTCC	0.468000													8	24					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60769742	60769742	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:60769742C>T	ENST00000303375.5	+	30	4772	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F	MRC2_ENST00000446119.2_Missense_Mutation_p.S323F	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1457					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGCAGCAGCTCCAGCCCCACC	0.642000													3	6					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196753154	196753154	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:196753154G>A	ENST00000312428.6	-	33	5334	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1745	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCACATCTGGAAACCTGGAA	0.393000													4	7					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30705003C>T	ENST00000256246.2	-	1	1605	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000													19	29					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192257	125192257	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:125192257C>T	ENST00000431078.1	+	5	1090	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	242	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCTACACCTCAATTTGGGTA	0.537000													3	8					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233897535	233897535	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:233897535A>C	ENST00000233840.3	+	1	154	c.154A>C	c.(154-156)Att>Ctt	p.I52L		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	52							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGCAGAGCTGATTGTCCTGCG	0.632000													7	14					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946967	40946967	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:40946967C>T	ENST00000295974.8	-	7	1585	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	APBB2_ENST00000506352.1_Missense_Mutation_p.R319Q|APBB2_ENST00000513140.1_Missense_Mutation_p.R319Q|APBB2_ENST00000508593.1_Missense_Mutation_p.R320Q	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	319	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.R319L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGAGACGGGCCGTTCCCACTG	0.532000													23	57					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753434	160753434	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:160753434G>A	ENST00000274547.2	-	10	1349	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.P378S|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517901.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	378					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	tttccagtagggtcccacaag	0.363000													14	19					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39263048	39263048	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:39263048G>A	ENST00000407418.3	-	5	528	c.405C>T	c.(403-405)ccC>ccT	p.P135P	CBX6_ENST00000216083.6_Silent_p.P117P			O95503	CBX6_HUMAN	chromobox homolog 6	135					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGTCCGGGCGGGGCAGGGGAC	0.721000													13	21					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624163	624163	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:624163C>T	ENST00000321878.5	+	2	248	c.89C>T	c.(88-90)gCc>gTc	p.A30V	PIGQ_ENST00000026218.5_Missense_Mutation_p.A30V|PIGQ_ENST00000409527.2_Missense_Mutation_p.A30V|PIGQ_ENST00000470411.2_Missense_Mutation_p.A30V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	30					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CAGAGCAGCGCCGTGGTCCTG	0.697000													29	8					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:192701073C>T	ENST00000304141.4	-	2	1183	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458000													93	49					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129221	84129221	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:84129221T>C	ENST00000343411.3	-	4	1106	c.611A>G	c.(610-612)cAg>cGg	p.Q204R		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	204					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATATCCCATCTGCCAGAGCAC	0.567000													21	21					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62290025	62290025	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:62290025G>A	ENST00000258991.3	-	2	1637	c.1553C>T	c.(1552-1554)cCa>cTa	p.P518L	TEX2_ENST00000584379.1_Missense_Mutation_p.P518L|TEX2_ENST00000583097.1_Missense_Mutation_p.P518L			Q8IWB9	TEX2_HUMAN	testis expressed 2	518					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)		AGCACTTGGTGGTGTAAAAAA	0.443000													94	45					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544965	35544965	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35544965C>T	ENST00000536438.1	-	11	1387	c.1072G>A	c.(1072-1074)Ggt>Agt	p.G358S	FKBP5_ENST00000357266.4_Missense_Mutation_p.G358S|FKBP5_ENST00000539068.1_Missense_Mutation_p.G358S|FKBP5_ENST00000540787.1_Missense_Mutation_p.G179S	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	358					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TGGGCTTCACCCCTCCTATAC	0.443000													58	91					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89855891	89855891	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:89855891G>A	ENST00000275072.4	+	1	123	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	10							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GCGGCCCGTGGAAGGGGGCGC	0.756000													11	2					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1119460	1119460	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:1119460T>G	ENST00000379290.1	+	12	1422	c.1249T>G	c.(1249-1251)Ttg>Gtg	p.L417V	TTLL10_ENST00000379288.3_Missense_Mutation_p.L344V|TTLL10_ENST00000379289.1_Missense_Mutation_p.L417V			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	417	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGCGGCCACTTGACCAACCA	0.602000													40	240					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51201137	51201137	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51201137C>T	ENST00000293441.1	-	12	1842	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	SHANK1_ENST00000391814.1_Silent_p.L608L|SHANK1_ENST00000359082.3_Silent_p.L608L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	608	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)		CCACTTCTTCCAGGCAGTCAG	0.567000													12	21					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621211	171621211	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:171621211T>G	ENST00000037502.5	-	1	600	c.541A>C	c.(541-543)Aga>Cga	p.R181R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	181					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCCCTTCTCAGCCTTGCT	0.562000													15	383					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412084	51412084	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:51412084G>A	ENST00000319760.6	-	1	364	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCCCACCAAAGAAATGGTCTA	0.448000													20	64					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016747	1016747	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1016747A>G	ENST00000421673.2	-	31	6104	c.6054T>C	c.(6052-6054)acT>acC	p.T2018T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2018	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTACTTGGAGTCACCAAGG	0.547000													12	909					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8952616	8952616	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:8952616A>C	ENST00000256707.3	-	6	594	c.413T>G	c.(412-414)gTt>gGt	p.V138G	KIDINS220_ENST00000418530.1_Missense_Mutation_p.V96G|KIDINS220_ENST00000319688.5_Missense_Mutation_p.V139G|KIDINS220_ENST00000427284.1_Missense_Mutation_p.V138G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.V138G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	138					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)					GATTGGGTAAACACTGTACTG	0.433000													13	22					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102662101	102662101	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:102662101C>T	ENST00000315274.6	-	8	1226	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	387	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TAGGTTTTTCCAGTGTTTTCC	0.413000													80	8					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86968106	86968106	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:86968106A>G	ENST00000283632.4	+	2	694	c.199A>G	c.(199-201)Aga>Gga	p.R67G		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	67										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTGTAAAAGAATAAAGGA	0.388000													13	42					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699835	151699835	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:151699835T>G	ENST00000392800.2	+	6	949	c.695T>G	c.(694-696)gTg>gGg	p.V232G	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.V232G	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	232	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CACTGTGAGGTGAACAGAGTA	0.512000													4	74					0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190436	27190436	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:27190436G>A	ENST00000339276.4	+	1	804	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	245					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GGCTCCCCAGGAGCCCCAGAG	0.682000													17	58					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100221434	100221434	+	Splice_Site	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:100221434T>G	ENST00000524871.1	+	24	3322	c.3030_splice	c.e24-1	p.V1011_splice	CNTN5_ENST00000418526.2_Splice_Site_p.V937_splice|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Splice_Site_p.V1011_splice|CNTN5_ENST00000279463.3_Splice_Site_p.V1011_splice	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1011	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACTCTCAGGTTTTTTATAGG	0.383000													7	9					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746175	94746175	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:94746175G>A	ENST00000399300.2	-	3	2677	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S	RBM12B_ENST00000517700.1_Missense_Mutation_p.P702S|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	822							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCATCAGGAGGGTGCCTAAAG	0.572000													40	47					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111365921	111365921	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:111365921T>G	ENST00000356018.2	-	5	828	c.629A>C	c.(628-630)aAg>aCg	p.K210T		NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	210					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		CCTGTAACACTTAGGATGCTT	0.562000													7	40					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20149278	20149278	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:20149278T>C	ENST00000395530.2	+	6	2356	c.2148T>C	c.(2146-2148)gcT>gcC	p.A716A	SPECC1_ENST00000536879.1_Silent_p.A137A|SPECC1_ENST00000395527.4_Silent_p.A797A|SPECC1_ENST00000261503.5_Silent_p.A797A|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	797						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGGTCGATGCTGCTGGTCGGT	0.507000													5	47					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288595	107288595	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107288595C>T	ENST00000277216.3	-	1	895	c.896G>A	c.(895-897)aGa>aAa	p.R299K		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCTTTATTTCTCAAGCTATA	0.383000													30	18					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739334	26739334	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:26739334G>A	ENST00000272371.2	-	5	587	c.461C>T	c.(460-462)cCa>cTa	p.P154L	OTOF_ENST00000403946.3_Missense_Mutation_p.P154L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	154					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGGAGCCTGGGAGCAGTCC	0.632000													71	58					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840033	57840033	+	Silent	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57840033G>T	ENST00000321545.4	+	4	1548	c.1203G>T	c.(1201-1203)ggG>ggT	p.G401G		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGAGTGTGGGAAGGCGTTCA	0.493000													26	61					7.26314e-15	7.3136e-15	1	1	0
BAG6	7917	broad.mit.edu	37	6	31608000	31608000	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:31608000A>G	ENST00000404765.2	-	24	3511	c.3222T>C	c.(3220-3222)agT>agC	p.S1074S	BAG6_ENST00000375976.4_Silent_p.S1038S|BAG6_ENST00000362049.6_Silent_p.S1038S|BAG6_ENST00000375964.6_Silent_p.S1044S|BAG6_ENST00000211379.5_Silent_p.S1038S|BAG6_ENST00000439687.2_Silent_p.S864S			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1044					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CAGGCATACCACTGAGGTAGG	0.527000													21	53					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491737	86491737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:86491737C>T	ENST00000395184.1	+	2	509	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	ARHGAP24_ENST00000503995.1_Nonsense_Mutation_p.Q15*|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	15					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCAACAAGGCCAAGGGCGGCA	0.493000													19	12					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36367568	36367568	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:36367568A>C	ENST00000373204.4	+	10	1373	c.1160A>C	c.(1159-1161)aAc>aCc	p.N387T	AGO1_ENST00000373206.1_Missense_Mutation_p.N312T	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GCCAGCTACAACTTAGATCCC	0.532000													4	81					0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16220024	16220024	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:16220024A>C	ENST00000225609.5	+	5	541	c.524A>C	c.(523-525)aAa>aCa	p.K175T	PIGL_ENST00000395844.3_Intron|PIGL_ENST00000581006.1_Intron|PIGL_ENST00000498772.2_Missense_Mutation_p.K175T	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		AAGTTACCTAAAGGTAAGGCT	0.502000													10	66					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023597	62023597	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:62023597G>A	ENST00000280772.1	-	6	886	c.695C>T	c.(694-696)tCa>tTa	p.S232L	ANK3_ENST00000373827.2_Missense_Mutation_p.S226L|ANK3_ENST00000503366.1_Missense_Mutation_p.S215L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	232					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTCACCTTTGATTCCACATC	0.557000													21	14					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183396934	183396934	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:183396934A>C	ENST00000454652.1	+	9	2049	c.1663A>C	c.(1663-1665)Aat>Cat	p.N555H	KLHL24_ENST00000242810.6_Missense_Mutation_p.N555H			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	555						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAGACGGGAAAATGGAGAAGC	0.408000													6	176					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739707	46739707	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:46739707G>A	ENST00000306448.4	-	2	1257	c.144C>T	c.(142-144)acC>acT	p.T48T	ATP6V1E2_ENST00000522587.1_Silent_p.T48T	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	48					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGTCGTTGGGTTTGCACGA	0.458000													24	83					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531990	50531990	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50531990G>A	ENST00000374144.3	+	3	1688	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.R467Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	467										endometrium(1)	1						CCAGCAGAGCGAACCCCATCA	0.542000													17	2					0	0	1	0	0
BST2	684	broad.mit.edu	37	19	17514996	17514996	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:17514996C>T	ENST00000252593.6	-	3	427	c.355G>A	c.(355-357)Gag>Aag	p.E119K	BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	119					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GTAGTGATCTCTCCTGGTAGG	0.597000													3	4					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65233415	65233415	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:65233415G>A	ENST00000542895.1	-	32	6470	c.6374C>T	c.(6373-6375)tCc>tTc	p.S2125F	SPTB_ENST00000389721.5_Missense_Mutation_p.S2125F|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000556626.1_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2125					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGACTCCCAGGAACTAGACAA	0.637000													43	55					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338607	186338607	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:186338607G>T	ENST00000411641.2	+	7	1211	c.992G>T	c.(991-993)gGa>gTa	p.G331V	AHSG_ENST00000273784.5_Missense_Mutation_p.G332V			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	331					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TCACCCTCAGGAGAAGTGTCG	0.612000													132	52					9.95151e-58	1.00619e-57	1	1	0
CNBD2	140894	broad.mit.edu	37	20	34611591	34611591	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:34611591G>A	ENST00000373973.3	+	11	1510	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	CNBD2_ENST00000349339.1_Missense_Mutation_p.G442E|CNBD2_ENST00000538900.1_Intron					cyclic nucleotide binding domain containing 2																		ATGAGCCTGGGAAATGAGTTG	0.438000													34	53					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43113057	43113057	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:43113057T>C	ENST00000230419.4	+	16	2748	c.2527T>C	c.(2527-2529)Ttc>Ctc	p.F843L	PTK7_ENST00000345201.2_Missense_Mutation_p.F803L|PTK7_ENST00000349241.2_Missense_Mutation_p.F713L|PTK7_ENST00000352931.2_Missense_Mutation_p.F787L|PTK7_ENST00000481273.1_Missense_Mutation_p.F851L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	843	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGCTGGACTTCCGGAGGGA	0.617000													15	67					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227745	28227745	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:28227745G>A	ENST00000343684.3	+	1	648	c.596G>A	c.(595-597)aGg>aAg	p.R199K		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	199	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAAAGCATAGGAAATATTCT	0.343000													10	46					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057696	152057696	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152057696T>C	ENST00000368806.1	-	3	2526	c.2462A>G	c.(2461-2463)cAa>cGa	p.Q821R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	821							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AACTTGCTTTTGATGCTCCTC	0.478000													37	110					0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717444	2717444	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2717444T>A	ENST00000323469.4	-	2	544	c.361A>T	c.(361-363)Aac>Tac	p.N121Y	DIRAS1_ENST00000585334.1_Missense_Mutation_p.N121Y	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	121					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCACTTGTTGCCCACGAGC	0.632000													13	40					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789222	111789222	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:111789222G>A	ENST00000389811.4	+	16	1614	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACOXL_ENST00000439055.1_Missense_Mutation_p.D434N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	464					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CAAGAAGGAGGATTTTTTCCA	0.453000													18	48					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2851596	2851596	+	Missense_Mutation	SNP	T	T	G	rs147914800		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:2851596T>G	ENST00000334241.4	+	3	399	c.261T>G	c.(259-261)atT>atG	p.I87M	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.I87M	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGAAAAATTTGGGACAGTC	0.408000													11	44					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967040	46967040	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:46967040C>T	ENST00000264318.3	-	8	2063	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	361					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGGGAACTTCCTGAGGGGGC	0.443000													43	26					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409344	10409344	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:10409344C>T	ENST00000226207.5	-	18	2135	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	681	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTTTAGTTTCATTGGGGATG	0.438000													90	2					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961620	85961620	+	Silent	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:85961620G>T	ENST00000383699.3	+	6	1254	c.627G>T	c.(625-627)gcG>gcT	p.A209A	CADM2_ENST00000407528.2_Silent_p.A200A|CADM2_ENST00000405615.2_Silent_p.A202A	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	200	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATGGAGTGGCGGTCATCTGCA	0.478000													9	20					5.4927e-09	5.51692e-09	1	1	0
SPATA33	124045	broad.mit.edu	37	16	89735727	89735727	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:89735727A>C	ENST00000301031.4	+	3	242	c.242A>C	c.(241-243)aAg>aCg	p.K81T	SPATA33_ENST00000579310.1_Missense_Mutation_p.K82T	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1			spermatogenesis associated 33																		TCCAGCAGGAAGAAAGTGGTC	0.498000													16	19					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7804747	7804747	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:7804747G>C	ENST00000338316.4	+	22	2914	c.2825G>C	c.(2824-2826)gGc>gCc	p.G942A	ADCY2_ENST00000537121.1_Missense_Mutation_p.G762A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	942					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AAGACCATTGGCAGCACATAC	0.522000													21	57					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400540	89400540	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:89400540G>A	ENST00000439576.2	+	12	5098	c.4724G>A	c.(4723-4725)gGt>gAt	p.G1575D	ACAN_ENST00000561243.1_Missense_Mutation_p.G1575D|ACAN_ENST00000559004.1_Missense_Mutation_p.G1575D|ACAN_ENST00000352105.7_Missense_Mutation_p.G1575D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1575					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAAGGGAGGGTCTAGAGACT	0.537000													22	53					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928453	20928453	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:20928453A>C	ENST00000250489.4	-	3	624	c.338T>G	c.(337-339)aTc>aGc	p.I113S	TMEM55B_ENST00000398020.4_Missense_Mutation_p.I120S|TMEM55B_ENST00000554028.1_5'UTR			Q86T03	TM55B_HUMAN	transmembrane protein 55B	113						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TGCATTCTTGATTGGCTAGAG	0.463000													16	18					0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114277844	114277844	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:114277844T>G	ENST00000519065.1	-	4	673	c.297A>C	c.(295-297)gaA>gaC	p.E99D	HDAC2_ENST00000398283.2_Missense_Mutation_p.E193D|HDAC2_ENST00000368632.2_Missense_Mutation_p.E69D|HDAC2_ENST00000519108.1_Missense_Mutation_p.E69D			Q92769	HDAC2_HUMAN	histone deacetylase 2	99	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CTGGACAATCTTCTCCAACAT	0.348000													6	9					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294604	4294604	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:4294604G>A	ENST00000301272.2	-	4	567	c.522C>T	c.(520-522)ggC>ggT	p.G174G	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Silent_p.G174G|TMIGD2_ENST00000600114.1_Silent_p.G54G	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	174						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCGGCGGCCCCAGAACC	0.622000													193	297					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25168015	25168015	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:25168015C>T	ENST00000276440.7	+	13	1329	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	429						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGCAATAGCCCGGAAGATGGG	0.468000													6	32					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744381	17744381	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:17744381A>C	ENST00000380060.3	+	6	2430	c.2092A>C	c.(2092-2094)Agt>Cgt	p.S698R	NHS_ENST00000398097.3_Missense_Mutation_p.S542R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	698						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCAACACAAGTGACAGTGA	0.532000													18	112					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34270072	34270072	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:34270072C>T	ENST00000346562.2	+	11	2537	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	NPAS3_ENST00000356141.4_Silent_p.F853F|NPAS3_ENST00000548645.1_Silent_p.F823F|NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000357798.5_Silent_p.F840F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGTTAACTTCGTGGACGTTA	0.647000													4	10					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063255	46063255	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46063255A>G	ENST00000309285.3	-	2	541	c.185T>C	c.(184-186)cTg>cCg	p.L62P	XCR1_ENST00000542109.1_Missense_Mutation_p.L62P	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	62					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGGACTCCAGGCTCTCATA	0.572000													7	33					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15640606	15640606	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15640606C>T	ENST00000269703.2	+	4	508	c.309C>T	c.(307-309)gtC>gtT	p.V103V	CYP4F22_ENST00000601005.2_Silent_p.V103V	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	103						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGGGACCTGTCCTGCCGCTGT	0.527000													47	62					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121093970	121093970	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:121093970C>T	ENST00000453000.1	+	1	869	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Silent_p.L40L|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGCCGAGCTCCCGGGACCGC	0.627000													17	1					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87662966	87662966	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87662966T>A	ENST00000436978.1	+	16	2964	c.2484T>A	c.(2482-2484)ttT>ttA	p.F828L	PTPN13_ENST00000427191.2_Missense_Mutation_p.F828L|PTPN13_ENST00000411767.2_Missense_Mutation_p.F828L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F828L|PTPN13_ENST00000316707.6_Missense_Mutation_p.F828L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	828	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAATATCTTTTTCTGTATGTC	0.368000													3	1					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46032572	46032572	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:46032572C>T	ENST00000372070.3	+	5	983	c.236C>T	c.(235-237)tCc>tTc	p.S79F	AKR1A1_ENST00000471651.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.S79F	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	79					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TTTGTGACATCCAAGCTGTGG	0.612000													44	26					0	0	1	0	0
C22orf26	55267	broad.mit.edu	37	22	46449682	46449682	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:46449682C>T	ENST00000396008.2	-	1	342	c.292G>A	c.(292-294)Ggt>Agt	p.G98S	C22orf26_ENST00000333761.1_Missense_Mutation_p.G98S			Q9NV39	CV026_HUMAN	chromosome 22 open reading frame 26	98													Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCTGGCACCGTGCCAGGCT	0.746000													4	10					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108193032	108193032	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:108193032T>G	ENST00000369002.4	-	21	2338	c.2159A>C	c.(2158-2160)aAg>aCg	p.K720T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	720					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGGCACAGGCTTAGCCTCATG	0.413000													16	38					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30977817	30977817	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:30977817T>G	ENST00000298139.5	+	21	2756	c.2507T>G	c.(2506-2508)gTc>gGc	p.V836G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	836	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATTCGCCAAGTCATTCATTAC	0.418000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				5	154					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76736817	76736817	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:76736817T>C	ENST00000296679.4	-	9	1078	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.S180G	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	235										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GTGACAAAACTCAAATCTAGG	0.448000													5	10					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640950	142640950	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142640950G>A	ENST00000355265.2	-	14	1986	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	504					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAGACTGCAGGAAGCTCGATC	0.547000													12	21					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	860467	860467	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:860467C>T	ENST00000381922.3	-	6	1078	c.976G>A	c.(976-978)Gga>Aga	p.G326R	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G326R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	326	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						CACCTGCCTCCACTGCTCTGC	0.607000													11	29					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947582	237947582	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:237947582G>A	ENST00000366574.2	+	90	12887	c.12570G>A	c.(12568-12570)gtG>gtA	p.V4190V	RYR2_ENST00000360064.6_Silent_p.V4196V|RYR2_ENST00000542537.1_Silent_p.V4174V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4190					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTCTTTGTGAACTTCTGCG	0.507000													39	47					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55643912	55643912	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:55643912G>A	ENST00000247191.2	-	8	1133	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	306					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGTGCAAAGGAATTCTTCCC	0.383000													19	29					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45017003	45017003	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45017003C>T	ENST00000454753.1	-	0	1715							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGTTGTTTTCCTTGAGGGCC	0.527000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	10					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966928	4966928	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:4966928C>T	ENST00000333703.4	+	5	1789	c.1276C>T	c.(1276-1278)Cct>Tct	p.P426S	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P437S|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P437S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCATGAAATTCCTTTCAGATT	0.403000													80	2					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031460	79031460	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:79031460A>C	ENST00000446378.2	+	2	6903	c.6872A>C	c.(6871-6873)aAa>aCa	p.K2291T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2291						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATTATGGAAAAAAAGAAATC	0.343000													25	27					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135494461	135494461	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:135494461G>A	ENST00000394143.1	+	24	9264	c.8973G>A	c.(8971-8973)gaG>gaA	p.E2991E	GPR112_ENST00000370652.1_Silent_p.E2991E|GPR112_ENST00000394141.1_Silent_p.E2786E|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Silent_p.E2786E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2991					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGATGAAGGAGAGTGTGCGGG	0.443000													28	0					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758510	5758510	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5758510C>T	ENST00000317121.3	+	1	830	c.764C>T	c.(763-765)aCc>aTc	p.T255I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCACATCTCACCCTCATCCTT	0.398000													59	89					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69928497	69928497	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:69928497T>G	ENST00000352241.4	+	2	480	c.317T>G	c.(316-318)cTt>cGt	p.L106R	MITF_ENST00000472437.1_Missense_Mutation_p.L54R|MITF_ENST00000448226.2_Missense_Mutation_p.L106R|MITF_ENST00000394355.2_Missense_Mutation_p.L81R|MITF_ENST00000328528.6_Missense_Mutation_p.L105R|MITF_ENST00000314589.5_Missense_Mutation_p.L90R	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	106					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCCACCACCCTTCCCTCTGCC	0.557000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						12	119					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166167016	166167016	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:166167016C>T	ENST00000375437.2	+	7	1171	c.881C>T	c.(880-882)tCc>tTc	p.S294F	SCN2A_ENST00000357398.3_Missense_Mutation_p.S294F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S294F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S294F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	294					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AATATCACTTCCTTCTTTAAC	0.348000													10	35					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049245	23049245	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23049245A>C	ENST00000221132.3	-	10	1433	c.1369T>G	c.(1369-1371)Tta>Gta	p.L457V		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	457					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCATCTTCTAAGTAGATGAAC	0.458000													11	33					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189925	70189925	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:70189925A>G	ENST00000253925.7	+	15	2073	c.1858A>G	c.(1858-1860)Agc>Ggc	p.S620G	PPFIA1_ENST00000389547.3_Missense_Mutation_p.S620G|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	620					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCTATCGCCCAGCGGGCAGGC	0.552000													11	44					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969163	72969163	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:72969163C>T	ENST00000261180.4	+	11	2221	c.2125C>T	c.(2125-2127)Cat>Tat	p.H709Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	709					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						AATCCGGAATCATGAGGTACA	0.348000													19	4					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123307950	123307950	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:123307950C>T	ENST00000253079.6	+	12	2383	c.2039C>T	c.(2038-2040)aCc>aTc	p.T680I	CCDC62_ENST00000392441.4_Intron|CCDC62_ENST00000392440.2_Missense_Mutation_p.T441I|CCDC62_ENST00000537566.1_Missense_Mutation_p.T441I	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	680						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CAAAAAAATACCTTTGTCAGT	0.343000													28	7					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825279	4825279	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4825279G>A	ENST00000380382.1	-	1	568	c.569C>T	c.(568-570)tCt>tTt	p.S190F	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.S111F|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCACAGAAGAAAAGGCATG	0.527000													21	64					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47236516	47236516	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47236516A>C	ENST00000300404.2	+	6	855	c.796A>C	c.(796-798)Aag>Cag	p.K266Q	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.K180Q|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.K206Q	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	266					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GAAGCTGTTGAAGTTCATTCT	0.532000													65	132					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113302285	113302285	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:113302285C>T	ENST00000264852.4	+	7	1503	c.777C>T	c.(775-777)ttC>ttT	p.F259F	SIDT1_ENST00000393830.3_Silent_p.F259F	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	259						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGCAGTTCTTCGTGGTATTTG	0.458000													31	3					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138635060	138635060	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:138635060T>G	ENST00000251691.4	+	26	4495	c.4329T>G	c.(4327-4329)gaT>gaG	p.D1443E		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1443					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)		TCCTGTCTGATTTTGATGATG	0.428000													7	11					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18456398	18456398	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:18456398A>G	ENST00000541669.1	+	5	641	c.530A>G	c.(529-531)aAg>aGg	p.K177R	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Missense_Mutation_p.K119R|LDHC_ENST00000536880.1_Missense_Mutation_p.K163R|LDHC_ENST00000535809.1_Missense_Mutation_p.K177R|LDHC_ENST00000280704.4_Missense_Mutation_p.K177R|LDHC_ENST00000544105.1_Missense_Mutation_p.K177R			P07864	LDHC_HUMAN	lactate dehydrogenase C	177					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATTGGAGAAAAGTTGGGTGTC	0.408000													11	125					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4406552	4406552	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4406552G>A	ENST00000254436.7	-	7	1503	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	TRIM21_ENST00000543625.1_Missense_Mutation_p.P464L	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	464	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AATATTCAGTGGACAGAGGGT	0.507000													13	16					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57626290	57626290	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:57626290C>T	ENST00000328923.3	+	6	1101	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	SHMT2_ENST00000393827.4_Missense_Mutation_p.R121W|SHMT2_ENST00000553474.1_Missense_Mutation_p.R196W|SHMT2_ENST00000449049.3_Missense_Mutation_p.R196W|SHMT2_ENST00000414700.3_Missense_Mutation_p.R196W|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Missense_Mutation_p.R207W	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	217						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCGACTTTTCCGGCCACGGCT	0.592000													47	56					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016396	141016396	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:141016396C>T	ENST00000277549.5	+	47	7116	c.4547C>T	c.(4546-4548)tCg>tTg	p.S1516L	CACNA1B_ENST00000277551.2_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2323L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2321L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2320L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2322L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2322					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGACTCAGCTCGGGTGGCCGA	0.657000													23	23					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176530	111176530	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:111176530G>A	ENST00000267328.3	-	2	400	c.187C>T	c.(187-189)Cac>Tac	p.H63Y		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	63					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCCAGGCCGTGGAACTGCTCC	0.607000													35	24					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39636955	39636955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:39636955C>T	ENST00000246639.2	-	1	437	c.305G>A	c.(304-306)tGg>tAg	p.W102*	KRT35_ENST00000393989.1_Nonsense_Mutation_p.W132*			Q92764	KRT35_HUMAN	keratin 35	132	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTGCTCACACCACTCACGGAT	0.602000													39	29					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:73962509C>T	ENST00000373468.1	-	3	2534	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R628Q			Q5QGS0	K2022_HUMAN	KIAA2022	628					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGATTTTCGTTTGCGAGC	0.418000													11	14					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155582	22155582	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22155582C>T	ENST00000397126.4	-	4	2402	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.373000													16	28					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196214354	196214354	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:196214354T>G	ENST00000318037.3	-	3	1068	c.474A>C	c.(472-474)aaA>aaC	p.K158N		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	158	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGCCTGTCTTTTTTCCTCTT	0.458000													51	386					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230163	140230163	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140230163G>A	ENST00000378122.3	+	1	2807	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D695N|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCTGGTGGATGTCAACGT	0.652000													38	49					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808500	93808500	+	Silent	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:93808500A>T	ENST00000315765.9	+	9	1673	c.1665A>T	c.(1663-1665)gtA>gtT	p.V555V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	555	Plastocyanin-like 3.				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)				CTGGCCTGGTAGGGCCTTTGC	0.517000													29	3					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160665011	160665011	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160665011T>G	ENST00000263636.4	-	33	4798	c.4771A>C	c.(4771-4773)Aat>Cat	p.N1591H	LY75_ENST00000554112.1_Missense_Mutation_p.N1591H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N1591H|LY75_ENST00000553424.1_Missense_Mutation_p.N1591H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1591H	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATGTTATTATTTTCCCTCATC	0.338000													19	26					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155282	71155282	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:71155282G>A	ENST00000283228.2	-	4	1048	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PTPRR_ENST00000342084.4_Missense_Mutation_p.S87F	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	199					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCAAACTGGGATAAACTTTG	0.378000													65	5					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33470118	33470118	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:33470118G>A	ENST00000379471.2	-	4	537	c.450C>T	c.(448-450)ggC>ggT	p.G150G	NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	150					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCGGAAACAGCCCTTCACGG	0.607000													11	11					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53560139	53560139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:53560139G>A	ENST00000357758.3	-	3	1219	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	DDHD1_ENST00000323669.5_Nonsense_Mutation_p.R346*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.R353*	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	346					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ACATGGTTTCGACTCAACTTG	0.348000													22	26					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37265141	37265141	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:37265141G>A	ENST00000233099.5	-	21	3168	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1025C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1025							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAGAGGAACGAATTGTAGAA	0.363000													12	46					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170797441	170797441	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:170797441C>T	ENST00000436636.2	-	28	3658	c.3313_splice	c.e28-1	p.G1105_splice	TNIK_ENST00000284483.8_Splice_Site_p.G1097_splice|TNIK_ENST00000538048.1_Splice_Site_p.G1057_splice|TNIK_ENST00000460047.1_Splice_Site_p.G1042_splice|TNIK_ENST00000470834.1_Splice_Site_p.G1068_splice|TNIK_ENST00000488470.1_Splice_Site_p.G1050_splice|TNIK_ENST00000369326.5_Splice_Site_p.G1083_splice|TNIK_ENST00000475336.1_Splice_Site_p.G1013_splice|TNIK_ENST00000341852.6_Splice_Site_p.G1021_splice|TNIK_ENST00000357327.5_Splice_Site_p.G1076_splice	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1105	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATTCTTCTTTCCTGTTGAAAT	0.333000													23	11					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043680	25043680	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:25043680C>T	ENST00000216336.2	-	4	401	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	122	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTTCACGTTTCGATTCCGTCT	0.642000													54	35					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31087780	31087780	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:31087780T>C	ENST00000394979.2	+	1	558	c.135T>C	c.(133-135)ccT>ccC	p.P45P	ZNF646_ENST00000300850.5_Silent_p.P45P			O15015	ZN646_HUMAN	zinc finger protein 646	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACAGCATCCCTCGGCCCTACC	0.627000													8	100					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923841	226923841	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:226923841G>A	ENST00000429204.1	-	2	1646	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	ITPKB_ENST00000272117.3_Missense_Mutation_p.S440F|ITPKB_ENST00000366784.1_Missense_Mutation_p.S440F	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	440							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CACTCTGTCGGAGAGCTGCCA	0.711000													27	26					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373248	59373248	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:59373248C>T	ENST00000348370.4	+	8	2495	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	RNF111_ENST00000559209.1_Missense_Mutation_p.P688S|RNF111_ENST00000557998.1_Missense_Mutation_p.P688S|RNF111_ENST00000561186.1_Missense_Mutation_p.P688S|RNF111_ENST00000434298.1_Missense_Mutation_p.P688S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	688	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TATTCCTCATCCTGTACATGC	0.507000													49	62					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397451	42397451	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:42397451G>A	ENST00000225308.8	-	12	1148	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC25A39_ENST00000586016.1_Missense_Mutation_p.S201F|SLC25A39_ENST00000590194.1_Missense_Mutation_p.S325F|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S310F|SLC25A39_ENST00000377095.5_Missense_Mutation_p.S333F	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	333					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GATGGCACAGGAGGGGGCAGC	0.622000													88	4					0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124453989	124453989	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:124453989A>T	ENST00000232607.2	+	2	312	c.206A>T	c.(205-207)gAc>gTc	p.D69V	UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	69	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATCAGTTTTGACACCGTGTGT	0.343000													5	36					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111115	7111115	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7111115G>A	ENST00000306904.5	+	1	951	c.764G>A	c.(763-765)aGa>aAa	p.R255K		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	255	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTCCCTTGAGAGGCTACAGC	0.642000													27	19					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366370	15366370	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15366370G>A	ENST00000263377.2	-	10	2006	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	BRD4_ENST00000371835.4_Silent_p.P595P|BRD4_ENST00000360016.5_Silent_p.P595P	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	595					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACGTGGGAGGGGGCTTGCTCT	0.587000			T	C15orf55	lethal midline carcinoma of young people								59	74					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52695781	52695781	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:52695781C>T	ENST00000293525.5	+	1	133	c.81C>T	c.(79-81)atC>atT	p.I27I	KRT86_ENST00000423955.2_Silent_p.I27I|KRT86_ENST00000544024.1_Silent_p.I27I	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	27	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTGCATCACCGCCGCCC	0.692000													14	21					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449433	104449433	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104449433G>A	ENST00000361820.3	-	2	1349	c.749C>T	c.(748-750)gCt>gTt	p.A250V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	250					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTGACATCAGCATCAGAACT	0.398000													44	35					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046357	69046357	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:69046357A>C	ENST00000295381.3	+	9	1522	c.1103A>C	c.(1102-1104)aAt>aCt	p.N368T	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.N362T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N369T|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N62T|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N329T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N361T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N362T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	368					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCCAGAAAAATGACCCCAAG	0.512000													15	110					0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32097093	32097093	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32097093A>C	ENST00000375156.3	-	2	735	c.465T>G	c.(463-465)acT>acG	p.T155T		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	155					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GCTCCCCCCAAGTTTCCTCCC	0.592000													66	324					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76915228	76915228	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:76915228G>A	ENST00000409709.3	+	39	5706	c.5434G>A	c.(5434-5436)Gag>Aag	p.E1812K	MYO7A_ENST00000409619.2_Missense_Mutation_p.E1763K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E1774K|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1812	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTGAAGGACGAGGCATATGT	0.607000													5	5					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833417	168833417	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:168833417C>T	ENST00000464456.1	-	7	2879	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	MECOM_ENST00000433243.2_Missense_Mutation_p.R561Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R560Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R561Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R560Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R560Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R748Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R625Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	70							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCATCCTTTCGCTTAGTGGT	0.517000													119	60					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24412565	24412565	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:24412565T>A	ENST00000378386.3	+	5	623	c.530T>A	c.(529-531)cTc>cAc	p.L177H	MRS2_ENST00000443868.2_Missense_Mutation_p.L180H|MRS2_ENST00000535061.1_Missense_Mutation_p.L127H|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.L177H|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_5'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	177					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GAGGGTCAACTCGTTACATAC	0.383000													19	64					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50904928	50904928	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:50904928A>C	ENST00000313478.7	-	16	2150	c.1869T>G	c.(1867-1869)aaT>aaG	p.N623K	TRPM7_ENST00000560955.1_Missense_Mutation_p.N623K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	623					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTAAAAGTTCATTAAGTGGAT	0.383000													11	36					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829664	26829664	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26829664C>T	ENST00000215906.5	+	2	521	c.83C>T	c.(82-84)tCg>tTg	p.S28L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	28					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCCAAGATGTCGCTCGAGTGG	0.652000													63	64					0	0	1	0	0
FAM101B	359845	broad.mit.edu	37	17	293168	293168	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:293168C>T	ENST00000329099.4	-	2	221	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	144										breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		AGTTGCGCCACGTGCCATTGG	0.652000													13	142					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968341	38968341	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:38968341G>A	ENST00000450244.1	-	4	768	c.570C>T	c.(568-570)ttC>ttT	p.F190F	SCN11A_ENST00000456224.3_Silent_p.F190F|SCN11A_ENST00000444237.2_Silent_p.F190F|SCN11A_ENST00000302328.3_Silent_p.F190F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	190					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GATCTCGAAGGAAAGAAAACT	0.368000													74	36					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432545	104432545	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:104432545A>T	ENST00000361820.3	-	3	2749	c.2149T>A	c.(2149-2151)Tct>Act	p.S717T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	717					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGGCTGAAGAAAAGGAGAAG	0.463000													28	86					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2567013	2567013	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:2567013G>A	ENST00000319888.6	-	2	1001	c.203C>T	c.(202-204)tCc>tTc	p.S68F	METTL4_ENST00000574538.1_Missense_Mutation_p.S68F			Q8N3J2	METL4_HUMAN	methyltransferase like 4	68					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGGCTTAGTGGAAGAGTCAGA	0.388000													46	37					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123101417	123101417	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123101417C>T	ENST00000466202.1	-	11	2577	c.2001G>A	c.(1999-2001)ttG>ttA	p.L667L	IQUB_ENST00000324698.6_Silent_p.L667L			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	667										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATACCTGCATCAAGAAAGCAA	0.363000													25	41					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77339628	77339628	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:77339628T>C	ENST00000451710.3	-	38	6219	c.5982A>G	c.(5980-5982)atA>atG	p.I1994M	TRPM6_ENST00000449912.2_Missense_Mutation_p.I1985M|TRPM6_ENST00000376871.3_Missense_Mutation_p.I827M|TRPM6_ENST00000360774.1_Missense_Mutation_p.I1990M|TRPM6_ENST00000376872.3_Missense_Mutation_p.I945M|TRPM6_ENST00000361255.3_Missense_Mutation_p.I1985M			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1990					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGTGGAATTTATCCTTTCAG	0.393000													17	62					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232543	71232543	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:71232543C>T	ENST00000226460.4	+	3	333	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	79	Poly-Pro.|Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCCACCATCCCCTCCTCCAC	0.552000													35	73					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903314	2903314	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2903314G>A	ENST00000161006.3	-	6	799	c.734C>T	c.(733-735)cCc>cTc	p.P245L	PRSS22_ENST00000571228.1_Missense_Mutation_p.P135L	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	245	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCACATGAGGGGGCCCCCGGA	0.706000													10	8					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23381790	23381790	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:23381790G>A	ENST00000258729.3	-	10	1452	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	366					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			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TTTAATCCAGGAATTAAATGT	0.468000													18	30					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50687198	50687198	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:50687198A>C	ENST00000230658.7	+	5	1441	c.856A>C	c.(856-858)Agt>Cgt	p.S286R	ISL1_ENST00000511384.1_Missense_Mutation_p.S263R|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	286	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGAAGTACAAAGTTACCAGCC	0.517000													6	52					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845215	107845215	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:107845215C>T	ENST00000285311.3	-	4	1381	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DKK2_ENST00000513208.1_Missense_Mutation_p.E126K|DKK2_ENST00000510463.1_Missense_Mutation_p.E180K	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	226	DKK-type Cys-2.				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)		TGGAAAATTTCCAGCCCATGA	0.493000													66	34					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547459	19547459	+	Silent	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:19547459T>A	ENST00000396212.2	+	5	904	c.468T>A	c.(466-468)acT>acA	p.T156T	CCP110_ENST00000381396.5_Silent_p.T156T|CCP110_ENST00000396208.2_Silent_p.T156T	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	156	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AATGTAAAACTGATGGAATAG	0.373000													16	41					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105180	14105180	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:14105180G>A	ENST00000590202.1	-	3	1511	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCCAGTATGGATTCTTTGAT	0.418000													9	65					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757661	75757661	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:75757661T>G	ENST00000260113.2	+	5	749	c.570T>G	c.(568-570)acT>acG	p.T190T	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Silent_p.T190T|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	190						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAATTCATACTTGCCAAAACA	0.428000													8	72					0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207039927	207039927	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:207039927G>A	ENST00000367098.1	+	4	687	c.324G>A	c.(322-324)aaG>aaA	p.K108K	IL20_ENST00000391930.2_Silent_p.K108K|IL20_ENST00000367096.3_Silent_p.K108K			Q9NYY1	IL20_HUMAN	interleukin 20	108					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CTCTCCGGAAGATCAGCAGCC	0.512000													116	144					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805757	54805757	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:54805757G>A	ENST00000306858.7	+	5	2104	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	663										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAAAGGCGAAGTTTCCCG	0.343000													26	30					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382073	41382073	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:41382073C>T	ENST00000377801.3	-	2	741	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PLCXD3_ENST00000328457.3_Missense_Mutation_p.E223K			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	223					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATCAGTTTCTCGGGGTCTGTG	0.517000													15	74					0	0	1	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847003	32847003	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32847003C>T	ENST00000420261.1	-	0	622																											CTATGAACTTCGTGATTTATT	0.368000													8	4					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262763	127262763	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:127262763C>T	ENST00000373588.4	-	4	672	c.476G>A	c.(475-477)gGg>gAg	p.G159E		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	159					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GCCCAGTGGCCCAGCAGGTGG	0.741000													14	10					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67049333	67049333	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:67049333G>A	ENST00000315962.4	+	4	884	c.511G>A	c.(511-513)Gag>Aag	p.E171K	TRIM55_ENST00000353317.5_Missense_Mutation_p.E171K|TRIM55_ENST00000350034.4_Missense_Mutation_p.E171K|TRIM55_ENST00000276573.7_Missense_Mutation_p.E171K	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	171						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCATTAGTCTGAGCTCAGTGA	0.468000													22	19					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28796089	28796089	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:28796089C>T	ENST00000422425.2	+	21	1427	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PLB1_ENST00000327757.5_Silent_p.S450S|PLB1_ENST00000329020.6_Silent_p.S138S	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	450	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCAACCCTTCCCTGAAGGGCT	0.498000													7	16					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693271	94693271	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:94693271T>G	ENST00000282020.4	+	16	2904	c.2646T>G	c.(2644-2646)aaT>aaG	p.N882K	GRID2_ENST00000510992.1_Missense_Mutation_p.N787K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	882					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GACGTGTAAATAGCTTGTGCA	0.438000													64	36					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480510	73480510	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:73480510G>A	ENST00000523207.1	+	2	1129	c.541G>A	c.(541-543)Gac>Aac	p.D181N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	181					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAAACTGTGGGACTTGCTGGA	0.463000													29	107					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911734	23911734	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23911734A>G	ENST00000382298.3	-	10	6869	c.6281T>C	c.(6280-6282)gTt>gCt	p.V2094A	SACS_ENST00000402364.1_Missense_Mutation_p.V1344A|SACS_ENST00000382292.3_Missense_Mutation_p.V2094A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2094					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACATGGAGTAACACGAAGAAC	0.368000													12	19					0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449405	219449405	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:219449405C>T	ENST00000273064.6	+	4	766	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	RQCD1_ENST00000295701.5_Missense_Mutation_p.P131S|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131S|RQCD1_ENST00000542068.1_Missense_Mutation_p.P131S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAAACACGTCCCTTTGAGTA	0.428000													40	139					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039677	36039677	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:36039677C>T	ENST00000282507.3	-	5	1078	c.977G>A	c.(976-978)gGg>gAg	p.G326E	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G292E|UGT3A2_ENST00000545528.1_Missense_Mutation_p.G24E	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	326						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATATCACCCCTTGGGGTAG	0.498000													69	29					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229031	13229031	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:13229031C>T	ENST00000197268.8	+	11	1716	c.1596C>T	c.(1594-1596)atC>atT	p.I532I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	532						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCCCTCCATCCTTCTGGATC	0.557000													46	55					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196558	55196558	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:55196558A>T	ENST00000340465.2	+	2	154	c.68A>T	c.(67-69)aAt>aTt	p.N23I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	23						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAACCAATAATTGCACATAT	0.348000													6	35					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40509752	40509752	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:40509752T>C	ENST00000287598.6	+	21	2929	c.2734T>C	c.(2734-2736)Ttt>Ctt	p.F912L	PAK6_ENST00000441369.1_5'UTR|PAK6_ENST00000453867.1_5'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.F926L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	912	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GATAGTGGACTTTTCCTACAG	0.433000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				17	122					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169223	53169223	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53169223A>C	ENST00000332411.2	-	2	817	c.764T>G	c.(763-765)cTg>cGg	p.L255R		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	255	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTCCCTCCAGGTTCCCCCT	0.542000													43	45					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432544	140432544	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140432544G>A	ENST00000306549.3	+	1	1566	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		497	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)			TCCAAAAAACGGAGATCTTTC	0.408000													9	10					0	0	1	0	0
MED7	9443	broad.mit.edu	37	5	156565770	156565770	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:156565770G>A	ENST00000286317.5	-	2	1054	c.673C>T	c.(673-675)Cta>Tta	p.L225L	MED7_ENST00000420343.1_Silent_p.L225L	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	225					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATCAATTAGGACACACAAG	0.328000													26	36					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477696	35477696	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:35477696C>T	ENST00000229771.6	-	6	588	c.509G>A	c.(508-510)gGa>gAa	p.G170E	TULP1_ENST00000322263.4_Missense_Mutation_p.G117E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	170					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCAGGGCTTCCCAGGTCTCC	0.567000													55	72					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139061	126139061	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:126139061G>A	ENST00000299308.3	+	9	3050	c.3042G>A	c.(3040-3042)atG>atA	p.M1014I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.M526I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1014						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGAACCTATGAATTCTTCGG	0.458000													22	1					0	0	1	0	0
IL9	3578	broad.mit.edu	37	5	135229739	135229739	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135229739T>C	ENST00000274520.1	-	4	295	c.285A>G	c.(283-285)tcA>tcG	p.S95S		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	95					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTACTTCAACTGATTTTTTCA	0.408000													7	3					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587070	26587070	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:26587070C>T	ENST00000436318.2	-	2	550	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Silent_p.L139L|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Silent_p.L139L|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Silent_p.L112L|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Silent_p.L139L			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	112						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGCTATGGATCAAGGGAGGGC	0.453000													47	54					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45433165	45433165	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:45433165G>A	ENST00000321429.4	+	14	1869	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	DUOX1_ENST00000389037.3_Missense_Mutation_p.E488K|DUOX1_ENST00000561166.1_Missense_Mutation_p.E134K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	488	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGGACTCCTGGAGAGCCACCG	0.572000													48	4					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177069382	177069382	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:177069382C>T	ENST00000393643.2	+	13	2045	c.1793C>T	c.(1792-1794)cCa>cTa	p.P598L	WDR17_ENST00000507824.2_Missense_Mutation_p.P605L|WDR17_ENST00000280190.4_Missense_Mutation_p.P622L|WDR17_ENST00000508596.1_Missense_Mutation_p.P598L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	622										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACTGAGATTCCATATCTGCTC	0.423000													25	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583188	179583188	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179583188C>T	ENST00000589042.1	-	85	24869	c.24645G>A	c.(24643-24645)gaG>gaA	p.E8215E	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.E7898E|TTN_ENST00000342992.6_Silent_p.E6971E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7898	Ig-like 64.						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)			TACTGCATCTCTCAGATTGTG	0.428000													6	31					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564652	176564652	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:176564652G>A	ENST00000367662.3	+	3	3076	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D638N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	638	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGCTGAACGACTTTGACGA	0.602000													36	20					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218268	130218268	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:130218268C>T	ENST00000276211.5	+	5	980	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S200F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S76F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S212F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCAAAAATTTCCTTTCCAATT	0.498000													19	0					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170825899	170825899	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:170825899C>T	ENST00000436636.2	-	20	2681	c.2337G>A	c.(2335-2337)gtG>gtA	p.V779V	TNIK_ENST00000284483.8_Silent_p.V779V|TNIK_ENST00000538048.1_Silent_p.V724V|TNIK_ENST00000460047.1_Silent_p.V724V|TNIK_ENST00000470834.1_Silent_p.V750V|TNIK_ENST00000488470.1_Silent_p.V724V|TNIK_ENST00000369326.5_Silent_p.V750V|TNIK_ENST00000475336.1_Silent_p.V695V|TNIK_ENST00000341852.6_Silent_p.V695V|TNIK_ENST00000357327.5_Silent_p.V750V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	779	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTTCTGGTTTCACCTTCGCAG	0.478000													11	7					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898814	28898814	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:28898814G>A	ENST00000395503.4	+	8	883	c.699G>A	c.(697-699)ggG>ggA	p.G233G	ATP2A1_ENST00000357084.3_Silent_p.G233G|ATP2A1_ENST00000536376.1_Silent_p.G108G	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	233					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCGAGATTGGGAAGATCCGAG	0.592000													15	53					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422699	26422699	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:26422699C>T	ENST00000335473.7	+	43	7009	c.6759C>T	c.(6757-6759)ttC>ttT	p.F2253F	MYO18B_ENST00000407587.2_Silent_p.F2254F|MYO18B_ENST00000536101.1_Silent_p.F2253F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2253						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCGGAGTTCGTGGAAGGGC	0.617000													10	16					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567154	80567154	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:80567154G>A	ENST00000220876.7	+	4	719	c.337G>A	c.(337-339)Gag>Aag	p.E113K	STMN2_ENST00000518491.1_Missense_Mutation_p.E102K|STMN2_ENST00000518111.1_Missense_Mutation_p.E113K	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	113					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GAGGGAACACGAGCGAGAAGT	0.453000													24	23					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395662	43395662	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:43395662G>A	ENST00000426263.3	-	5	739	c.561C>T	c.(559-561)ccC>ccT	p.P187P	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	187					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TCAGCAGCAGGGGCCACAGGT	0.657000													15	95					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90585810	90585810	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:90585810A>G	ENST00000371930.4	-	4	594	c.384T>C	c.(382-384)gtT>gtC	p.V128V		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	128										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CTGTAGCATTAACTTCGACGC	0.328000													3	35					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711912	89711912	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:89711912A>T	ENST00000371953.3	+	6	1887	c.530A>T	c.(529-531)tAt>tTt	p.Y177F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	177	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y177fs*2(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATGTGTATTATTATAGCTAC	0.368000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			38	6					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78034135	78034135	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:78034135G>A	ENST00000370801.3	-	13	2823	c.2348C>T	c.(2347-2349)cCt>cTt	p.P783L	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.P289L	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATACATGATAGGAATACTTTC	0.259000													6	9					0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32151816	32151816	+	Translation_Start_Site	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:32151816A>C	ENST00000375069.3	-	0	183				AGER_ENST00000438221.2_Intron|AGER_ENST00000375076.4_Intron|AGER_ENST00000375055.2_Intron|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Intron|AGER_ENST00000538695.1_Intron|AGER_ENST00000375067.3_Intron			Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor						cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GGGCTAACAAAATTTGGACAG	0.542000													9	28					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972753	61972753	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:61972753A>C	ENST00000329882.8	-	4	606	c.536T>G	c.(535-537)cTt>cGt	p.L179R	CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACTGCTAAAAAGAGGGCAGCA	0.572000									Russell-Silver syndrome				34	87					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628131	128628131	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:128628131A>G	ENST00000344954.6	+	2	429	c.41A>G	c.(40-42)aAg>aGg	p.K14R	FLI1_ENST00000534087.1_Missense_Mutation_p.K14R|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000429175.2_Missense_Mutation_p.K47R|FLI1_ENST00000527767.2_3'UTR			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	47					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAGCCCCACAAGATCAACCCC	0.597000			T	EWSR1	Ewing sarcoma								6	10					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802491	185802491	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:185802491C>T	ENST00000302277.6	+	4	2962	c.2368C>T	c.(2368-2370)Cat>Tat	p.H790Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	790						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCGACAGAATCATTTACCAGA	0.388000													12	29					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780890	94780890	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:94780890C>T	ENST00000341584.3	-	2	242	c.96G>A	c.(94-96)atG>atA	p.M32I		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	32					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GATGGTTACTCATGTTCACAT	0.537000													63	86					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862725	23862725	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:23862725C>T	ENST00000405093.3	-	23	3001	c.2931G>A	c.(2929-2931)gtG>gtA	p.V977V	MYH6_ENST00000356287.3_Silent_p.V977V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	977					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTAGGTTCTTCACCTGCCGAC	0.532000													111	49					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931136	42931136	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:42931136T>G	ENST00000244289.4	-	1	442	c.166A>C	c.(166-168)Aga>Cga	p.R56R	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	56					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGAGGGGTCTTTGGTTTGAA	0.522000													20	135					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220599	146220599	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:146220599G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						AGTGTGTTTTGAGAGCAAGGA	0.403000													27	36					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468070	6468070	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:6468070G>A	ENST00000381480.2	-	23	1963	c.1851C>T	c.(1849-1851)ccC>ccT	p.P617P	DENND1C_ENST00000543576.1_Silent_p.P573P	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	617						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCAGGGAAAGGGGCTGGGGCT	0.537000													18	16					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90128438	90128438	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:90128438A>T	ENST00000407825.1	-	7	792	c.155T>A	c.(154-156)cTt>cAt	p.L52H	PRDM7_ENST00000449207.2_Missense_Mutation_p.L258H|PRDM7_ENST00000325921.6_Missense_Mutation_p.L52H			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	258	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCATACTCCAAGCCCAGCCTG	0.577000													8	29					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758164	5758164	+	Missense_Mutation	SNP	C	C	T	rs150132590	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5758164C>T	ENST00000317121.3	+	1	484	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCACCCTCTTCGCTATCCATC	0.443000													33	36					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490305	141490305	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:141490305C>T	ENST00000247883.4	+	1	289	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	48					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					ACCTCATTATCCTGGGCCTGG	0.448000													44	45					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188759	3188759	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:3188759G>A	ENST00000400569.3	-	4	1091	c.758C>T	c.(757-759)tCc>tTc	p.S253F	MYOM1_ENST00000261606.7_Missense_Mutation_p.S253F|MYOM1_ENST00000356443.4_Missense_Mutation_p.S253F			P52179	MYOM1_HUMAN	myomesin 1	253						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTCCTCAGGGACAGGCGTTC	0.423000													11	17					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40141564	40141564	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:40141564T>A	ENST00000373233.3	-	5	950	c.773A>T	c.(772-774)gAt>gTt	p.D258V	CHD6_ENST00000309279.7_Missense_Mutation_p.D258V|CHD6_ENST00000373222.3_Missense_Mutation_p.D293V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	258					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)				TTCCCCATCATCATCCACCAC	0.522000													212	249					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931180	157931180	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:157931180T>C	ENST00000389413.3	-	7	1041	c.938A>G	c.(937-939)gAc>gGc	p.D313G	PTPRN2_ENST00000404321.2_Missense_Mutation_p.D336G|PTPRN2_ENST00000389416.4_Missense_Mutation_p.D296G|PTPRN2_ENST00000389418.4_Missense_Mutation_p.D313G|PTPRN2_ENST00000409483.1_Missense_Mutation_p.D275G	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	313						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTCTGCAGGTCCTTCAGGAG	0.612000													17	81					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45992234	45992234	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:45992234C>T	ENST00000590526.1	-	7	1556	c.430G>A	c.(430-432)Gat>Aat	p.D144N	RTN2_ENST00000344680.4_Missense_Mutation_p.D345N|RTN2_ENST00000430715.2_Missense_Mutation_p.D78N|PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000245923.4_Missense_Mutation_p.D418N			O75298	RTN2_HUMAN	reticulon 2	418						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGGTCCACATCCAGGTAGGCC	0.637000													8	10					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486425	94486425	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:94486425G>A	ENST00000375708.3	-	9	2549	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	784	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACGTAGCGGGCGTTGCTCAC	0.652000													37	55					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898268	30898268	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:30898268C>T	ENST00000375712.3	+	2	855	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	230	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)			CGAGGTGGGCCTCGATGGTGA	0.517000													17	24					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060622	46060622	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:46060622C>T	ENST00000295452.4	-	6	810	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.E215K(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TACTCAATTTCATTTTTAGGG	0.358000													11	16					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104471636	104471636	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:104471636T>G	ENST00000409874.4	+	15	1655	c.1607T>G	c.(1606-1608)tTg>tGg	p.L536W	TDRD9_ENST00000339063.5_Missense_Mutation_p.L536W	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	536	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGCACGATCTTGAAAGTGAAA	0.453000													5	57					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156722	22156722	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22156722C>T	ENST00000397126.4	-	4	1262	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCGCATTCTTCACATTTGTAG	0.388000													7	16					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392248	45392248	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:45392248A>G	ENST00000389039.6	-	24	3569	c.3184_splice	c.e24+1	p.Y1062_splice	DUOX2_ENST00000603300.1_Splice_Site_p.Y1062_splice			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1062	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAACTCTTACAGTAAGCACGA	0.567000													6	37					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42174341	42174341	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42174341G>A	ENST00000320955.6	-	12	2477	c.2250C>T	c.(2248-2250)taC>taT	p.Y750Y		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	750					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGTCCGCGAAGTACTGTGGGA	0.771000													4	0					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822971	54822971	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:54822971G>A	ENST00000301219.3	-	5	544	c.425C>T	c.(424-426)cCc>cTc	p.P142L	LILRA5_ENST00000446712.3_Missense_Mutation_p.P130L|LILRA5_ENST00000346508.3_Missense_Mutation_p.P130L|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.P142L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	142	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGAGGGTGGGTTTGTTGTA	0.582000													52	123					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137752	32137752	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:32137752C>A	ENST00000312561.4	+	4	4277	c.3863C>A	c.(3862-3864)cCc>cAc	p.P1288H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAACTAAATCCCTTGCAAAAT	0.343000													22	15					1.96292e-10	1.97313e-10	1	1	0
TLR7	51284	broad.mit.edu	37	X	12906044	12906044	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:12906044C>T	ENST00000380659.3	+	3	2556	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	806					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTGACTATTCCTTACCTGGCC	0.483000													47	0					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160734851	160734851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:160734851C>T	ENST00000263636.4	-	11	1785	c.1758G>A	c.(1756-1758)tgG>tgA	p.W586*	LY75_ENST00000554112.1_Nonsense_Mutation_p.W586*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.W586*|LY75_ENST00000553424.1_Nonsense_Mutation_p.W586*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.W586*	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAAGAAAATTCCAGTTGGAAA	0.438000													42	37					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303000													20	12					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626391	154626391	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:154626391C>T	ENST00000260010.6	+	1	3740	c.2332C>T	c.(2332-2334)Ctg>Ttg	p.L778L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	778	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTGGGTAAATCTGAGAGCTGC	0.458000													19	32					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795673	33795673	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:33795673C>T	ENST00000261326.5	+	8	1551	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	510					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGACTGGAGCCCCATCAGCAG	0.582000													5	12					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89846120	89846120	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:89846120T>C	ENST00000370456.4	+	6	894	c.801T>C	c.(799-801)atT>atC	p.I267I	GBP6_ENST00000535065.1_Silent_p.I137I	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	267							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)		AAACAAACATTTTCTGTTCTT	0.443000													7	34					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99922364	99922364	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:99922364C>G	ENST00000373004.3	+	9	1483	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	352					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTCCTGATCCTTCCAACCGA	0.448000													27	5					0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93393029	93393029	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:93393029A>G	ENST00000216492.5	+	3	453	c.173A>G	c.(172-174)gAg>gGg	p.E58G	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Missense_Mutation_p.E58G	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	58	O-glycosylated at one site only in cerebrospinal fluid.				regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GAATGTTTTGAGACACTCCGA	0.567000													10	33					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130856036	130856036	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:130856036C>T	ENST00000245255.3	+	21	2751	c.2479C>T	c.(2479-2481)Cgt>Tgt	p.R827C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	827	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGGTGTCATTCGTGTTCCTGC	0.428000													57	7					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649667	142649667	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:142649667C>G	ENST00000355265.2	-	10	1606	c.1132G>C	c.(1132-1134)Gac>Cac	p.D378H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	378					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATTGACTGTCCAGGGCTGGA	0.542000													8	39					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772461	4772461	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:4772461G>A	ENST00000378191.4	+	2	912	c.531G>A	c.(529-531)gaG>gaA	p.E177E	AJAP1_ENST00000378190.3_Silent_p.E177E	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	177	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCACCACAGAGACTGAGTTCA	0.672000													26	7					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43609983	43609983	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:43609983C>T	ENST00000355710.3	+	11	2167	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	RET_ENST00000340058.5_Silent_p.S645S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	645					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCTCTTCTCCTTCATCGTCT	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				3	27					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8194179	8194179	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:8194179G>A	ENST00000600128.1	-	17	2529	c.2115C>T	c.(2113-2115)taC>taT	p.Y705Y	FBN3_ENST00000270509.2_Silent_p.Y705Y|FBN3_ENST00000601739.1_Silent_p.Y705Y			Q75N90	FBN3_HUMAN	fibrillin 3	705	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGACACAGCGGTAGCTGCCCC	0.617000													31	25					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363184	108363184	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:108363184C>T	ENST00000361582.3	+	14	1545	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	DZIP3_ENST00000463306.1_Missense_Mutation_p.L439F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	439					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTACAACCATCTTTGGACCAA	0.418000													44	7					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10943010	10943010	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr21:10943010A>C	ENST00000298232.7	-	11	890	c.523T>G	c.(523-525)Tta>Gta	p.L175V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L193V|TPTE_ENST00000342420.5_Missense_Mutation_p.L155V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	193					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTCGAAGTAAATGTGTCCAT	0.323000													6	34					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46331546	46331546	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:46331546G>A	ENST00000529193.1	+	4	974	c.523G>A	c.(523-525)Gga>Aga	p.G175R	CREB3L1_ENST00000288400.3_Missense_Mutation_p.G175R			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	175					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TCAGGCCCCGGGAGAGATGAC	0.592000			T	FUS	myxofibrosarcoma								8	4					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108243080	108243080	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:108243080G>A	ENST00000369002.4	-	4	552	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	125	J.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GACAGCAAACGATATTGTTTT	0.348000													34	4					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539917	55539917	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:55539917G>A	ENST00000220676.1	+	4	3623	c.3475G>A	c.(3475-3477)Gaa>Aaa	p.E1159K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1159					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAATCTTCAGAAACACTTGC	0.418000													23	68					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47187861	47187861	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:47187861C>T	ENST00000524782.1	-	15	1731	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	ARFGAP2_ENST00000319543.6_Silent_p.G232G|ARFGAP2_ENST00000419701.2_Silent_p.G394G|ARFGAP2_ENST00000426335.2_Silent_p.G365G|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	501	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGCCATTTTCCCAGCCACAG	0.547000													76	71					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066535	91066535	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:91066535A>C	ENST00000371826.3	+	2	991	c.822A>C	c.(820-822)ttA>ttC	p.L274F	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	274					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAAAGGCTTTAGAATACATAC	0.413000													9	59					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090869	143090869	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:143090869A>C	ENST00000367603.2	-	5	5749	c.5007T>G	c.(5005-5007)gtT>gtG	p.V1669V	HIVEP2_ENST00000012134.2_Silent_p.V1669V|HIVEP2_ENST00000367604.1_Silent_p.V1669V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATGAAGCATAAACCGAGGATT	0.453000													6	71					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505192	47505192	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47505192C>T	ENST00000371901.3	+	8	1311	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	CYP4X1_ENST00000538609.1_Missense_Mutation_p.S353F|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	354						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						GGGGATGGGTCTTCTATCACT	0.507000													19	27					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065473	35065473	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35065473C>T	ENST00000310101.5	-	9	1014	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000382002.5_Silent_p.E529E|PRLR_ENST00000511486.1_Silent_p.E428E|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.E428E	NM_001204315.1	NP_001191244.1	P16471	PRLR_HUMAN	prolactin receptor	0					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGCCGCTGTTCTCTCTCTGTT	0.498000													15	65					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81097435	81097435	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:81097435A>C	ENST00000378611.4	-	2	241	c.126T>G	c.(124-126)taT>taG	p.Y42*	C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000299578.5_Nonsense_Mutation_p.Y42*|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	42										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGAGAAGACAATAAACATGAT	0.353000													20	41					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50667868	50667868	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50667868G>A	ENST00000439308.2	-	4	1747	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	TUBGCP6_ENST00000248846.5_Silent_p.L419L	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	419					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAAGAGTCCAGGACGGGCTGC	0.577000													16	19					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341139	121341139	+	Missense_Mutation	SNP	C	C	T	rs151216821	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:121341139C>T	ENST00000338040.4	+	3	1277	c.863C>T	c.(862-864)gCc>gTc	p.A288V		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	288					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAGGGCTTGCCCCTTGGCAG	0.483000													89	1					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2260822	2260822	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:2260822T>C	ENST00000328540.3	-	1	1129	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	BRICD5_ENST00000566018.1_Missense_Mutation_p.S5G|BRICD5_ENST00000562360.1_Missense_Mutation_p.S5G	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		GCACAGCAGCTTGCTGGTTCC	0.647000													19	42					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38346709	38346709	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:38346709G>A	ENST00000436615.3	+	7	1010	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.E223K|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.E229K|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.E174K|RAPGEFL1_ENST00000540388.1_3'UTR	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	380					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGCCCACTGAGGACTGTGT	0.572000													19	51					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146227	156146227	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:156146227C>T	ENST00000368285.3	+	15	1992	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	SEMA4A_ENST00000368284.1_Silent_p.I443I|SEMA4A_ENST00000355014.2_Silent_p.I575I|SEMA4A_ENST00000368286.2_Silent_p.I443I|SEMA4A_ENST00000368282.1_Silent_p.I575I	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	575	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAACTCCATCCTGGAGCTCC	0.527000													25	34					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128415080	128415080	+	Missense_Mutation	SNP	G	G	A	rs138668344		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:128415080G>A	ENST00000409455.1	-	2	688	c.53C>T	c.(52-54)tCc>tTc	p.S18F	LIMS2_ENST00000324938.5_Missense_Mutation_p.S47F|LIMS2_ENST00000410011.1_Missense_Mutation_p.S18F|LIMS2_ENST00000545738.2_Missense_Mutation_p.S45F|LIMS2_ENST00000409808.2_Missense_Mutation_p.S18F|LIMS2_ENST00000355119.4_Missense_Mutation_p.S23F			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	23	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTCGGCGGGGGAGAAGCGGGC	0.642000													57	45					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470210	161470210	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:161470210A>G	ENST00000392142.4	+	3	1054	c.906A>G	c.(904-906)aaA>aaG	p.K302K	MAP3K4_ENST00000366919.2_Silent_p.K302K|MAP3K4_ENST00000366920.2_Silent_p.K302K|MAP3K4_ENST00000348824.7_Silent_p.K302K	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	302					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACTTTCAAAGTCGACTATG	0.433000													22	25					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105412204	105412204	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:105412204G>A	ENST00000394767.2	-	2	1206	c.756C>T	c.(754-756)atC>atT	p.I252I	CXXC4_ENST00000426831.1_Silent_p.I83I|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	83					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.I83M(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CTGTCATGACGATGACCCCTG	0.577000													20	46					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154557501	154557501	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:154557501G>A	ENST00000368474.4	-	15	3661	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	ADAR_ENST00000368471.3_Silent_p.S859S|ADAR_ENST00000292205.5_Silent_p.S1197S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1154	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCCGGGACAATTCAT	0.488000													57	69					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772727	27772727	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:27772727C>T	ENST00000333743.6	+	8	1268	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	338					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACCCTCAACTACTATTCCA	0.542000													6	3					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17083113	17083113	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:17083113T>G	ENST00000377833.4	-	27	4001	c.3936A>C	c.(3934-3936)gcA>gcC	p.A1312A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1312	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCCTGTTGTTGCCCGGATGG	0.383000													62	72					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113304581	113304581	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:113304581G>A	ENST00000389385.4	+	7	877	c.380G>A	c.(379-381)gGa>gAa	p.G127E	RPH3A_ENST00000543106.2_Missense_Mutation_p.G127E|RPH3A_ENST00000447659.2_Missense_Mutation_p.G78E|RPH3A_ENST00000420983.2_Missense_Mutation_p.G127E|RPH3A_ENST00000415485.3_Missense_Mutation_p.G127E|RPH3A_ENST00000548866.1_Missense_Mutation_p.G78E|RPH3A_ENST00000551052.1_Missense_Mutation_p.G123E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	127	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACCAAGTGCGGAGTGGAGACC	0.562000													6	0					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14751286	14751286	+	Silent	SNP	C	C	T	rs143894283		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:14751286C>T	ENST00000284268.6	-	5	909	c.579G>A	c.(577-579)ccG>ccA	p.P193P	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	193					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGAGAGGATCGGGATGAGCA	0.562000													17	89					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36464513	36464513	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:36464513T>C	ENST00000229812.7	-	13	1527	c.1242A>G	c.(1240-1242)ccA>ccG	p.P414P		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	414	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATCAGATTCTGGAAACTCAT	0.383000													7	49					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740024	15740024	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15740024C>T	ENST00000441682.2	+	0	1480							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGCAGAAGTTCGCGATGGCAG	0.657000													9	11					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136494956	136494956	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:136494956C>T	ENST00000308191.6	+	9	1036	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	245	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCTGGAGAATCATCACTGGCG	0.418000													18	3					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171337701	171337701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:171337701C>T	ENST00000296933.6	-	3	579	c.209G>A	c.(208-210)tGg>tAg	p.W70*	FBXW11_ENST00000425623.2_Nonsense_Mutation_p.W51*|FBXW11_ENST00000393802.2_Nonsense_Mutation_p.W49*|FBXW11_ENST00000265094.5_Nonsense_Mutation_p.W83*	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	83	Homodimerization domain D (By similarity).				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGATTCAGACCACTGGTCAAA	0.368000													6	12					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915552	131915552	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:131915552A>G	ENST00000378823.3	+	5	952		c.e5-1		RAD50_ENST00000265335.6_Splice_Site|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)						DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATATCTTCAAAGATACATTAA	0.308000								Homologous recombination					3	13					0	0	1	0	0
C19orf66	55337	broad.mit.edu	37	19	10197940	10197940	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10197940A>C	ENST00000253110.11	+	3	457	c.159A>C	c.(157-159)aaA>aaC	p.K53N	C19orf66_ENST00000591813.1_Missense_Mutation_p.K53N|C19orf66_ENST00000397881.3_5'UTR	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	53										large_intestine(3)|skin(1)	4						TAAAGCAAAAAGATGGCCAAG	0.612000													11	41					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472048	55472048	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:55472048C>T	ENST00000341048.4	-	4	394	c.243G>A	c.(241-243)ttG>ttA	p.L81L	ANKRD55_ENST00000513241.2_Silent_p.L52L|ANKRD55_ENST00000504958.2_Silent_p.L81L	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	80										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTCCCATCTTCAACAGCAGCT	0.502000													37	60					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678358	100678358	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:100678358T>G	ENST00000306151.4	+	3	3725	c.3661T>G	c.(3661-3663)Tta>Gta	p.L1221V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1221	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCACTCCATTAACAAGTAT	0.522000													97	325					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21175871	21175871	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:21175871C>T	ENST00000381541.3	+	5	634	c.569C>T	c.(568-570)cCa>cTa	p.P190L	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.P143L|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.P190L|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron																							CCCATAGTACCATTGGGGATT	0.383000													32	34					0	0	1	0	0
C18orf32	497661	broad.mit.edu	37	18	47008751	47008751	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr18:47008751T>G	ENST00000318240.3	-	3	406	c.195A>C	c.(193-195)aaA>aaC	p.K65N	RPL17-C18orf32_ENST00000584895.1_3'UTR|C18orf32_ENST00000582392.1_Missense_Mutation_p.K65N|C18orf32_ENST00000579820.1_Missense_Mutation_p.K65N|RPL17-C18orf32_ENST00000332968.6_3'UTR	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	65					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity			large_intestine(2)|lung(1)	3						CTGTTGGTCCTTTTGTTGGTA	0.363000													11	33					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89755011	89755011	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:89755011C>T	ENST00000268125.5	-	7	1086	c.647G>A	c.(646-648)cGg>cAg	p.R216Q		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	216	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	ATCTGAAGTCCGGAGACTAGC	0.547000													20	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075829	9075829	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:9075829C>T	ENST00000397910.4	-	3	11820	c.11617G>A	c.(11617-11619)Gaa>Aaa	p.E3873K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3874	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						GTTGATTTTTCTTTCTCATTC	0.458000													6	34					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714285	183714285	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:183714285G>A	ENST00000511685.1	+	26	6583	c.6460G>A	c.(6460-6462)Gat>Aat	p.D2154N	TENM3_ENST00000406950.2_Missense_Mutation_p.D2154N					teneurin transmembrane protein 3																		GTACAACTACGATCTGAATGG	0.458000													28	84					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56329936	56329936	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:56329936G>A	ENST00000309964.4	-	8	725	c.475C>T	c.(475-477)Cca>Tca	p.P159S	CLOCK_ENST00000381322.1_Missense_Mutation_p.P159S|CLOCK_ENST00000513440.1_Missense_Mutation_p.P159S	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	159	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCCCCTTCTGGGATAAAATTA	0.299000													8	14					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47709991	47709991	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:47709991A>T	ENST00000233146.2	+	16	2931	c.2708A>T	c.(2707-2709)aAc>aTc	p.N903I	MSH2_ENST00000461394.1_Intron|MSH2_ENST00000543555.1_Missense_Mutation_p.N837I|MSH2_ENST00000406134.1_Intron	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	903					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGAAGAAAACATCACAATA	0.323000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				3	12					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130269290	130269290	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:130269290G>A	ENST00000373312.3	-	14	2288	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	FAM129B_ENST00000373314.3_Missense_Mutation_p.S679L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	692							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCAGGCGGCGAGGAGGCCTC	0.721000													8	10					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45598997	45598997	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:45598997A>G	ENST00000336156.4	-	7	791	c.726T>C	c.(724-726)ttT>ttC	p.F242F	KIAA0930_ENST00000443310.3_Silent_p.F224F|KIAA0930_ENST00000391627.2_Silent_p.F208F|KIAA0930_ENST00000251993.7_Silent_p.F247F	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	242							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCATGCGCACAAACTCCATGT	0.637000													5	290					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246126	47246126	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47246126G>A	ENST00000300404.2	+	10	1418	c.1359G>A	c.(1357-1359)agG>agA	p.R453R	B4GALNT2_ENST00000504681.1_Silent_p.R367R|B4GALNT2_ENST00000393354.2_Silent_p.R393R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	453					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTCACAAGAGGATGGGATTTT	0.562000													14	9					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049419	23049419	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:23049419C>T	ENST00000221132.3	-	10	1259	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	399	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCTGTACCAGCTCTGACCACA	0.527000													42	63					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1041937	1041937	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:1041937G>A	ENST00000263094.6	+	4	499	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ABCA7_ENST00000433129.1_Missense_Mutation_p.E90K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	90					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGCGAGGAGCCCGGGCG	0.667000													19	22					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63409814	63409814	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:63409814G>A	ENST00000330258.3	-	2	3625	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGCAAGAGAGGCACCTTGCTC	0.577000													10	2					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472393	123472393	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:123472393T>C	ENST00000280562.5	-	20	3240	c.3035A>G	c.(3034-3036)cAg>cGg	p.Q1012R	PITPNM2_ENST00000392428.1_Missense_Mutation_p.Q739R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.Q1018R|PITPNM2_ENST00000542749.1_Missense_Mutation_p.Q1018R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGTCAGAACCTGGGGGCCGTC	0.622000													5	34					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115885713	115885713	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:115885713A>G	ENST00000369287.3	-	15	2811	c.2545T>C	c.(2545-2547)Tct>Cct	p.S849P	C10orf118_ENST00000543782.1_Intron	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	849										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATTTCCAAAGAGAGCTCCAAT	0.378000													18	24					0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179227054	179227054	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:179227054G>A	ENST00000337755.5	-	7	1741	c.855C>T	c.(853-855)atC>atT	p.I285I	MGAT4B_ENST00000292591.7_Silent_p.I270I	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	270					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTGGCCACGATGTCATCCT	0.617000													19	19					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708487	37708487	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:37708487C>T	ENST00000539465.1	+	4	944	c.351C>T	c.(349-351)gtC>gtT	p.V117V	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.V117V			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	117	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AACGAGCAGTCGATATTCTCA	0.468000													16	34					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186379307	186379307	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:186379307T>C	ENST00000307588.3	-	6	2509	c.2434A>G	c.(2434-2436)Agt>Ggt	p.S812G	CCDC110_ENST00000510617.1_Missense_Mutation_p.S812G|CCDC110_ENST00000393540.3_Missense_Mutation_p.S775G	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	812						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)		AAAGGCCTACTCTGAGGACTA	0.383000													3	19					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49064691	49064691	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:49064691T>C	ENST00000380950.2	-	13	1962	c.1775A>G	c.(1774-1776)gAg>gGg	p.E592G	CEP152_ENST00000399334.3_Missense_Mutation_p.E592G|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.E499G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	592					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TACCTCAACCTCAATGCTTTT	0.348000													17	15					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3157801	3157801	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:3157801C>T	ENST00000262958.3	+	6	1078	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	274					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ATCCGTCATCCTCTTTCTCAA	0.493000													70	107					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62363302	62363302	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:62363302A>C	ENST00000278823.2	-	13	1565	c.1176T>G	c.(1174-1176)gcT>gcG	p.A392A	MTA2_ENST00000527204.1_Silent_p.A219A|MTA2_ENST00000524902.1_Silent_p.A219A	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	392					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCAACAGGAAGCACAGAGGC	0.572000													19	73					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103343686	103343686	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:103343686G>A	ENST00000358392.2	-	67	5663	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	COL11A1_ENST00000512756.1_Silent_p.I1654I|COL11A1_ENST00000370096.3_Silent_p.I1770I|COL11A1_ENST00000353414.4_Silent_p.I1731I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1770	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGTGTATTGATTTCAATGA	0.294000													16	14					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475368	5475368	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5475368C>T	ENST00000341449.2	+	1	731	c.650C>T	c.(649-651)tCc>tTc	p.S217F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTCCTCTCCTATGTGCTC	0.468000													60	72					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371765	240371765	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240371765C>T	ENST00000319653.9	+	5	3883	c.3653C>T	c.(3652-3654)cCa>cTa	p.P1218L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1218	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGGGGATTCCACCTGCTCCA	0.647000													5	8					0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619224	1619224	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:1619224C>T	ENST00000412090.1	-	1	300	c.257G>A	c.(256-258)gGg>gAg	p.G86E	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	86	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACAGCCCCCCTTGGAGCC	0.657000													76	100					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4024697	4024697	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:4024697G>A	ENST00000294016.3	-	10	3381	c.2843C>T	c.(2842-2844)tCg>tTg	p.S948L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	948					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTCAAGGGGCGAAGTTAATAC	0.378000													16	22					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392669	79392669	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:79392669C>T	ENST00000370742.3	-	8	1048	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	329	Poly-Glu.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATGACTCTTTCCTCCTCTTCA	0.323000													21	24					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51362857	51362857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51362857G>A	ENST00000360617.3	+	5	702	c.702G>A	c.(700-702)tgG>tgA	p.W234*	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Nonsense_Mutation_p.W191*|KLK3_ENST00000326003.2_Intron			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	14	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TAGTGCCCTGGAGAGGAGGTG	0.607000													41	50					0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15338390	15338390	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:15338390A>T	ENST00000221730.3	-	7	1161	c.941T>A	c.(940-942)cTg>cAg	p.L314Q	EPHX3_ENST00000602233.1_Missense_Mutation_p.L314Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.L314Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	314						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCTTCCACCAGCCCCAGCTC	0.632000													17	33					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833173	61833173	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:61833173C>T	ENST00000280772.1	-	37	7657	c.7466G>A	c.(7465-7467)gGa>gAa	p.G2489E	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2489					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTAGGGGGTCCTGCATGGTC	0.438000													60	34					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123332191	123332191	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:123332191C>T	ENST00000275162.4	+	3	1786	c.451C>T	c.(451-453)Cct>Tct	p.P151S	CLVS2_ENST00000368438.1_Missense_Mutation_p.P5S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	151	CRAL-TRIO.				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						GATTGAAGATCCTGAGCTTCA	0.408000													32	6					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646030	51646030	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:51646030A>C	ENST00000317643.6	+	1	473	c.404A>C	c.(403-405)aAa>aCa	p.K135T	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.K135T|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.K135T	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	135					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGGAATTATAAATATGACCAG	0.478000													4	74					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101586159	101586159	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:101586159T>C	ENST00000311812.2	-	14	1407	c.1257A>G	c.(1255-1257)agA>agG	p.R419R	SNX31_ENST00000428383.2_Silent_p.R320R	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	419					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCTTGCTTTTTCTTGATAGAA	0.328000													7	51					0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47482503	47482503	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47482503T>G	ENST00000300408.3	-	7	742	c.670A>C	c.(670-672)Att>Ctt	p.I224L	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	prohibitin	224					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAGTTGGCAATCAGCTCAGCT	0.557000													3	19					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141946141	141946141	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:141946141T>A	ENST00000389484.3	-	7	1833	c.862A>T	c.(862-864)Atg>Ttg	p.M288L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	288					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAATCGCCATTTGTTGCACA	0.393000										TSP Lung(27;0.18)			26	16					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24793406	24793406	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:24793406C>T	ENST00000310677.4	-	17	2022		c.e17-1		ADCY4_ENST00000396747.3_Splice_Site|ADCY4_ENST00000418030.2_Splice_Site|ADCY4_ENST00000554068.2_Splice_Site	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGACACACCTCTGTGGAGGGA	0.632000													13	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598552	179598552	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:179598552T>C	ENST00000589042.1	-	53	15788	c.15564A>G	c.(15562-15564)caA>caG	p.Q5188Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.Q4871Q|TTN_ENST00000342992.6_Silent_p.Q3944Q|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4871	Ig-like 32.						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)			TCACAGCAGCTTGCAGGGTAA	0.418000													26	56					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769665	112769665	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:112769665G>A	ENST00000390666.3	-	1	1063	c.872C>T	c.(871-873)tCc>tTc	p.S291F	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	291					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGTTCCCCGGGAACTCTCCCC	0.632000													17	12					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719368	42719368	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:42719368G>T	ENST00000230882.4	+	10	1949	c.1759G>T	c.(1759-1761)Ggt>Tgt	p.G587C	GHR_ENST00000357703.3_Missense_Mutation_p.G565C|GHR_ENST00000537449.1_Missense_Mutation_p.G400C	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	587					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)	ACATGTTCCAGGTTCTGAGAT	0.502000													11	54					3.86212e-05	3.86818e-05	1	1	0
SLC29A4	222962	broad.mit.edu	37	7	5340171	5340171	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:5340171T>C	ENST00000396872.2	+	10	1489	c.1328T>C	c.(1327-1329)cTc>cCc	p.L443P	SLC29A4_ENST00000406453.3_Missense_Mutation_p.L429P|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000297195.4_Missense_Mutation_p.L443P	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	443					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ATGCCCGCCCTCCGTCACCCC	0.662000													14	279					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059834	7059834	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:7059834C>T	ENST00000299481.4	+	2	363	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	6	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATTCATCATCATCTTCTTTC	0.373000													25	70					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090640	115090640	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:115090640A>C	ENST00000361283.1	+	3	1632	c.1323A>C	c.(1321-1323)aaA>aaC	p.K441N		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	441	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGCTCAGAAAACCCTCAGGGT	0.537000													12	139					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186313134	186313134	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:186313134T>G	ENST00000367478.3	-	26	3802	c.3506A>C	c.(3505-3507)aAg>aCg	p.K1169T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1169					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCAACGACCTTGTCACTTAA	0.393000			T	NTRK1	papillary thyroid								9	22					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508753	106508753	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:106508753C>T	ENST00000359195.3	+	2	1057	c.747C>T	c.(745-747)ttC>ttT	p.F249F	PIK3CG_ENST00000440650.2_Silent_p.F249F|PIK3CG_ENST00000496166.1_Silent_p.F249F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	249					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGAGCTTCTTCACCAAGATGG	0.552000													24	83					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147842	70147842	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:70147842G>A	ENST00000374299.3	-	6	993	c.849C>T	c.(847-849)tcC>tcT	p.S283S	SLC7A3_ENST00000298085.4_Silent_p.S283S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	283					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCATCGGGATGGAACGCTGGG	0.522000													16	0					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279080	152279080	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:152279080C>T	ENST00000368799.1	-	3	8317	c.8282G>A	c.(8281-8283)gGa>gAa	p.G2761E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCCTCTAGTGCT	0.572000									Ichthyosis				80	299					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61745786	61745786	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:61745786G>T	ENST00000325324.6	+	4	441	c.272G>T	c.(271-273)cGt>cTt	p.R91L	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.R131L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	91	Importin N-terminal.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ACTACTCTGCGTGCAGGGCTC	0.333000													12	17					9.31168e-06	9.3307e-06	1	1	0
SACS	26278	broad.mit.edu	37	13	23909099	23909099	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:23909099T>G	ENST00000382298.3	-	10	9504	c.8916A>C	c.(8914-8916)ccA>ccC	p.P2972P	SACS_ENST00000402364.1_Silent_p.P2222P|SACS_ENST00000382292.3_Silent_p.P2972P	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2972					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.P2825P(1)|p.P2972P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATATAAATCTGGCTGTAGAT	0.378000													25	59					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27070297	27070297	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:27070297A>C	ENST00000261191.7	-	10	1593	c.1057T>G	c.(1057-1059)Ttt>Gtt	p.F353V	ASUN_ENST00000539625.1_Missense_Mutation_p.F252V	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	353					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTTAGAAGAAAATTAGTAAGG	0.249000													8	29					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071598	240071598	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:240071598C>T	ENST00000255380.4	+	5	1626	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	283					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTTTGTCCACCCCACGGGCAG	0.507000													31	33					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32409397	32409397	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:32409397T>C	ENST00000282587.5	+	5	311	c.274T>C	c.(274-276)Tat>Cat	p.Y92H	SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y63H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y18H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y92H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y132H|SLC30A6_ENST00000357055.3_5'UTR	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	92						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGCCCTGTCTATTCATTTGG	0.274000													3	17					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92613243	92613243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:92613243G>A	ENST00000342818.3	+	9	1258	c.1022G>A	c.(1021-1023)tGg>tAg	p.W341*	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	341						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTTAACAGGTGGATTGTAAAG	0.284000													12	16					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383963	85383963	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:85383963C>T	ENST00000258888.5	+	5	2226	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	687					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGATTTGCCCCTCCAAAGCC	0.607000													29	21					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17764557	17764557	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:17764557A>C	ENST00000378814.5	-	37	5057	c.5058T>G	c.(5056-5058)tcT>tcG	p.S1686S	KIF13A_ENST00000378816.5_Silent_p.S1699S|KIF13A_ENST00000378826.2_Silent_p.S1699S|KIF13A_ENST00000259711.6_Silent_p.S1734S|KIF13A_ENST00000378843.2_Silent_p.S1686S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1734					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTCTGTGAAAGAATGGTCTT	0.473000													8	37					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34234257	34234257	+	RNA	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:34234257A>G	ENST00000587132.1	-	0	3770																											GATTCAGTGGAGTTTGAGCTA	0.468000													6	12					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869456	206869456	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:206869456A>G	ENST00000403263.1	-	11	3124	c.2720T>C	c.(2719-2721)cTc>cCc	p.L907P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	639					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ATCTGCGCCGAGAAGGTTGCT	0.577000													6	38					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87705671	87705671	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:87705671T>G	ENST00000436978.1	+	38	6573	c.6093T>G	c.(6091-6093)acT>acG	p.T2031T	PTPN13_ENST00000427191.2_Silent_p.T2007T|PTPN13_ENST00000411767.2_Silent_p.T2026T|PTPN13_ENST00000511467.1_Silent_p.T2031T|PTPN13_ENST00000316707.6_Silent_p.T1835T	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2026						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGTTCTACTTATCAGATAA	0.333000													10	12					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169353	53169353	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:53169353C>T	ENST00000332411.2	-	2	687	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	212	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACTTGGTCTCCAGGACCTTG	0.567000													67	6					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8639324	8639324	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:8639324G>A	ENST00000378641.3	+	9	1310	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB1_ENST00000338037.6_Missense_Mutation_p.E279K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E279K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	279					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGAAGTATGAACCCAACAA	0.433000													49	75					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78204194	78204194	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:78204194T>G	ENST00000281038.5	-	7	1112	c.737A>C	c.(736-738)aAt>aCt	p.N246T	NARS2_ENST00000528850.1_Missense_Mutation_p.N19T	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	246					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	p.N246I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCTCTGAGAATTTTCAGCTCG	0.388000													21	61					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50411768	50411768	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:50411768T>G	ENST00000596217.1	-	2	3184	c.1297A>C	c.(1297-1299)Acc>Ccc	p.T433P	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.T357P|NUP62_ENST00000597029.1_Missense_Mutation_p.T433P|NUP62_ENST00000352066.3_Missense_Mutation_p.T433P|NUP62_ENST00000413454.1_Missense_Mutation_p.T433P|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.T433P			P37198	NUP62_HUMAN	nucleoporin 62kDa	433					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCTTGTAGGTTTTCTCACGC	0.602000													10	134					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48875584	48875584	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:48875584T>C	ENST00000262105.2	+	6	886	c.677T>C	c.(676-678)cTc>cCc	p.L226P	MCM4_ENST00000523944.1_Missense_Mutation_p.L226P	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	226					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TACAGACAACTCATCTCTTAC	0.299000													3	19					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109542	125109542	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:125109542C>T	ENST00000522917.1	+	36	4932	c.4726C>T	c.(4726-4728)Ccc>Tcc	p.P1576S	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1576S|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1576						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGACATGTTTCCCAAGGATAT	0.507000													31	48					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233398769	233398769	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:233398769C>T	ENST00000258229.8	-	2	528	c.294G>A	c.(292-294)aaG>aaA	p.K98K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	98						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTTTTCTTCCTTTCTGGAGG	0.368000													36	56					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719572	50719572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:50719572G>A	ENST00000449103.1	-	23	3849	c.3709C>T	c.(3709-3711)Cag>Tag	p.Q1237*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.Q1237*			O15031	PLXB2_HUMAN	plexin B2	1237					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTCCAGCTGGGACTTGATC	0.672000													7	35					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475728	120475728	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:120475728C>T	ENST00000355622.6	+	3	1423	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S401L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	441					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGTGAGTTTTCAGTATTCCTA	0.383000													23	50					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735477	54735477	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:54735477G>A	ENST00000306858.7	+	2	549	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	145										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATGATAAAAGAAGCAAGAAA	0.328000													16	15					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170871864	170871864	+	Silent	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:170871864A>C	ENST00000272793.5	+	30	4491	c.4441A>C	c.(4441-4443)Agg>Cgg	p.R1481R	UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000418381.1_Silent_p.R1481R|UBR3_ENST00000392631.1_Silent_p.R302R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1481					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AGCTGGCAAAAGGTCTTGTTT	0.328000													4	33					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335673	57335673	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:57335673G>A	ENST00000326441.9	-	4	714	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000423103.2_Silent_p.L117L|ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000593931.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|PEG3_ENST00000598410.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	117	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCAGAGTGACGAGCTTCTCAC	0.547000													58	115					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123257651	123257651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:123257651G>A	ENST00000451558.1	+	9	832	c.311G>A	c.(310-312)tGg>tAg	p.W104*	ASB15_ENST00000434204.1_Nonsense_Mutation_p.W104*|ASB15_ENST00000540573.1_Nonsense_Mutation_p.W104*|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Nonsense_Mutation_p.W104*|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Nonsense_Mutation_p.W104*			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	104					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AAGACACTCTGGGAATTCAAG	0.383000													25	84					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594855	50594855	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:50594855G>A	ENST00000374139.2	-	4	294	c.284C>T	c.(283-285)gCc>gTc	p.A95V	DRGX_ENST00000434016.1_Missense_Mutation_p.A100V			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	100					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGGTCTGAGGCCCCTCTCTC	0.562000													47	9					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482446	76482446	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:76482446C>T	ENST00000389840.5	-	45	7043	c.6919G>A	c.(6919-6921)Gtg>Atg	p.V2307M	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.V2316M|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTTTGGATCACCGTGATCTCC	0.572000													15	47					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065318	23065318	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:23065318C>T	ENST00000246006.4	-	1	1659	c.1512G>A	c.(1510-1512)agG>agA	p.R504R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	504				R -> G (in Ref. 1; AA sequence).	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCGGGGCCCCTTGTGGGAC	0.632000													54	75					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123839062	123839062	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123839062G>A	ENST00000422452.2	-	5	879	c.816C>T	c.(814-816)atC>atT	p.I272I	TENM1_ENST00000371130.3_Silent_p.I272I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGCACTGAAGATCGCAGAGG	0.488000													40	44					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153420075	153420075	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:153420075C>T	ENST00000369951.4	+	4	665	c.605C>T	c.(604-606)tCa>tTa	p.S202L	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	202					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAAGACTTCATGCGGCCCA	0.637000													35	78					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996162	57996162	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:57996162C>T	ENST00000316770.2	-	1	228	c.186G>A	c.(184-186)ccG>ccA	p.P62P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAAATACATCGGGGTGCGGA	0.527000													40	49					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364190	5364190	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5364190C>T	ENST00000300773.2	-	1	619	c.565G>A	c.(565-567)Gat>Aat	p.D189N	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGTGGTATCAGCACAGGCG	0.433000													73	63					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671370	45671370	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:45671370G>A	ENST00000308064.2	-	4	1774	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	368					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CAAAGGCCACGATGTCGTAGG	0.672000													48	55					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959889	13959889	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:13959889C>T	ENST00000382080.1	-	7	1455	c.740G>A	c.(739-741)gGg>gAg	p.G247E	SGCZ_ENST00000421524.2_Missense_Mutation_p.G200E	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	234					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G247E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACTCACCTCCCCTTCTGTAGA	0.493000													41	32					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46944031	46944031	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:46944031C>T	ENST00000449590.1	+	14	1430	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	PTH1R_ENST00000430002.2_Silent_p.S409S|PTH1R_ENST00000418619.1_Silent_p.S409S|PTH1R_ENST00000313049.5_Silent_p.S409S	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	409						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGCTCAAATCCACGCTGGTGC	0.612000													5	13					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846733	140846733	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:140846733A>C	ENST00000371372.1	+	7	1119	c.974A>C	c.(973-975)gAt>gCt	p.D325A	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.D325A|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D325A|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D325A|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D325A	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	325					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGACAAACGATGCGGCCGGC	0.592000													8	36					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123078867	123078867	+	Silent	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:123078867A>G	ENST00000333479.7	+	43	4467	c.4290A>G	c.(4288-4290)aaA>aaG	p.K1430K	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1430					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCACCAAGAAAGACCTCATTA	0.318000													8	28					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955113	104955113	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:104955113G>A	ENST00000507740.1	+	11	2272	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	RIMS2_ENST00000436393.2_Missense_Mutation_p.R665Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R726Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R887Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	949	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATATGCCACGAAGACAGCTC	0.393000										HNSCC(12;0.0054)			15	33					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12482995	12482995	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr12:12482995T>C	ENST00000535902.1	-	4	1825	c.1262A>G	c.(1261-1263)gAt>gGt	p.D421G	MANSC1_ENST00000545735.1_Missense_Mutation_p.D340G|MANSC1_ENST00000396349.3_Missense_Mutation_p.D387G			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	421						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GATCAAATAATCCAGTCTTGA	0.473000													23	29					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:197404165G>A	ENST00000367397.1	+	5	2173	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	CRB1_ENST00000535699.1_Missense_Mutation_p.E1034K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1058K|CRB1_ENST00000544212.1_Missense_Mutation_p.E539K|CRB1_ENST00000367399.2_Missense_Mutation_p.E946K|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1058	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGACAACGAAACACCTTT	0.443000													40	39					0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259912	71259912	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:71259912G>A	ENST00000528743.2	+	1	447	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	70	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTCCAAGGGAGGCTGTGGT	0.627000													113	152					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68382243	68382243	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:68382243A>G	ENST00000339507.5	+	14	2153		c.e14-1		PRMT7_ENST00000441236.1_Splice_Site|PRMT7_ENST00000449359.3_Splice_Site|PRMT7_ENST00000348497.4_Intron			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7						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)		TTTCTTTCTAAGATCTTCAAG	0.358000													12	32					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754261	140754261	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140754261G>A	ENST00000517434.1	+	1	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGGGAAGGAGAAGCCGTT	0.572000													3	3					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936876	4936876	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:4936876C>T	ENST00000322013.3	-	1	46	c.18G>A	c.(16-18)ctG>ctA	p.L6L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTTTCCCAGGGATCCCA	0.557000													19	22					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31894754	31894754	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr20:31894754G>A	ENST00000253354.1	+	15	1517	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	452						extracellular space	lipid binding										CATTGGTGAAGGCCTTGGGAT	0.577000													34	55					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692973	135692973	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:135692973C>T	ENST00000513104.1	-	2	385	c.103G>A	c.(103-105)Gag>Aag	p.E35K	TRPC7_ENST00000426057.2_Missense_Mutation_p.E35K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E35K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	35					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGCCCTTCTCGTTGAACATG	0.612000													39	45					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	44					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119247	38119247	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:38119247A>C	ENST00000406386.3	+	7	939	c.684A>C	c.(682-684)gaA>gaC	p.E228D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	228					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCGGGGAGAAAGCGGGTTGT	0.647000													3	28					0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940951	185940951	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:185940951C>T	ENST00000338875.4	+	3	438	c.438C>T	c.(436-438)taC>taT	p.Y146Y	HELT_ENST00000515777.1_Silent_p.Y61Y|HELT_ENST00000505610.1_Silent_p.Y61Y	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	146	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCGTTCAGTACCTGAGAGCAC	0.642000													4	19					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328855	23328855	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:23328855G>A	ENST00000597761.2	+	4	1208	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCATAATGGAGAAAAACCCTA	0.353000													5	15					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18020474	18020474	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:18020474C>T	ENST00000262608.8	+	13	1806	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	CECR2_ENST00000400573.4_Silent_p.P601P|CECR2_ENST00000400585.2_Silent_p.P460P	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	643					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCAGGCACCCTTTTTAAACC	0.522000													30	54					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231632	7231632	+	Silent	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:7231632T>G	ENST00000379938.2	+	10	3837	c.3300T>G	c.(3298-3300)gcT>gcG	p.A1100A	RREB1_ENST00000349384.6_Silent_p.A1100A|RREB1_ENST00000334984.6_Silent_p.A1100A|RREB1_ENST00000379933.3_Silent_p.A1100A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1100					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACACCACGGCTTCAGACAGCT	0.627000													22	64					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396550	220396550	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:220396550G>A	ENST00000358078.4	+	2	1048	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.G345E			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	345						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										AGCCGGGCAGGGGGCATGGGC	0.637000													32	90					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44137169	44137169	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:44137169C>T	ENST00000398776.1	+	3	278	c.240C>T	c.(238-240)ttC>ttT	p.F80F	CAPN11_ENST00000542245.1_Silent_p.F80F	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	80	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGAGCTCTTCGAGGACCCCT	0.587000													14	16					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12628378	12628378	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:12628378C>T	ENST00000376223.2	-	6	1283	c.900G>A	c.(898-900)ggG>ggA	p.G300G		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	300					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTATGTCCGCCCTTTGAAAG	0.532000													73	85					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22861793	22861793	+	Nonsense_Mutation	SNP	C	C	T	rs145962755		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:22861793C>T	ENST00000283645.4	+	14	1943	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.R605*	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	605					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTCCCGTCTTCGACATGGAGA	0.403000													29	80					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27401307	27401307	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:27401307C>T	ENST00000521400.1	+	17	1921	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	EPHX2_ENST00000517536.1_Silent_p.F314F|EPHX2_ENST00000518379.1_Silent_p.F465F|EPHX2_ENST00000521780.1_Silent_p.F431F|EPHX2_ENST00000380476.3_Silent_p.F444F	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	497	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AGAAGGACTTCGTGCTCGTTC	0.607000													19	49					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276096	42276096	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:42276096C>T	ENST00000399518.3	-	20	2949	c.2463G>A	c.(2461-2463)aaG>aaA	p.K821K	PLA2G4E_ENST00000413860.2_Silent_p.K792K|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	809	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ATGTCAGCTCCTTGGTGGCAT	0.532000													4	8					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131821	40131821	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:40131821C>T	ENST00000235628.1	-	2	222	c.223G>A	c.(223-225)Ggc>Agc	p.G75S		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	75					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCTCCACGCCCTGCTCCGTG	0.587000													54	39					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10528343	10528343	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10528343G>A	ENST00000380702.2	+	2	56	c.56G>A	c.(55-57)aGg>aAg	p.R19K	PDE4A_ENST00000592685.1_Missense_Mutation_p.R19K			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	0					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGAGGTCGAGGGAGACCCCC	0.682000											OREG0025236	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457109	107457109	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:107457109C>T	ENST00000318763.5	+	1	450	c.407C>T	c.(406-408)tCc>tTc	p.S136F		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATGGTTGTGTCCCTTGGCTTG	0.478000													84	57					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890747	51890747	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:51890747C>T	ENST00000371117.3	-	32	4136	c.3861G>A	c.(3859-3861)gtG>gtA	p.V1287V	PKHD1_ENST00000340994.4_Silent_p.V1287V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1287	IPT/TIG 7.				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	p.V1287V(1)		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)					AGCCTTTCCCCACCAAGCTTG	0.587000													16	70					0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	71992360	71992360	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:71992360C>T	ENST00000257515.8	+	5	747	c.327C>T	c.(325-327)taC>taT	p.Y109Y	FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Silent_p.Y109Y	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	109						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCTCCGCTACCTCCAGATAT	0.577000													10	36					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41973345	41973345	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr22:41973345G>A	ENST00000216259.7	-	8	850	c.766C>T	c.(766-768)Cca>Tca	p.P256S		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	256					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GCTGTCTCTGGGAAGAAAATC	0.577000											OREG0026591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	56					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347680	65347680	+	Silent	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:65347680T>C	ENST00000309295.4	+	5	706	c.441T>C	c.(439-441)gcT>gcC	p.A147A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	147										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGTGCAGGCTGAGCTGAGCC	0.662000													8	70					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575774	22575774	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:22575774G>A	ENST00000357774.5	-	4	384	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGCAAAATAAGAATATACAAC	0.279000													8	12					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47238001	47238001	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:47238001C>T	ENST00000300404.2	+	7	1003	c.944C>T	c.(943-945)cCa>cTa	p.P315L	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.P229L|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.P255L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	315					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GACCCTGGACCAGGTAAGGCC	0.532000													134	9					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123787509	123787509	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:123787509C>T	ENST00000422452.2	-	7	1356	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K	TENM1_ENST00000371130.3_Silent_p.K431K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAATATTGAACTTCAGATATA	0.398000													90	6					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884945	28884945	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr10:28884945C>T	ENST00000375664.3	+	7	1368	c.759C>T	c.(757-759)gtC>gtT	p.V253V	WAC_ENST00000347934.4_Intron|WAC_ENST00000428935.1_Silent_p.V253V|WAC_ENST00000375646.1_Intron|WAC_ENST00000354911.4_Silent_p.V298V			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	298					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CATCTTCTGTCCCTGCACAGA	0.368000													42	46					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18140840	18140840	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:18140840A>T	ENST00000316843.4	+	14	1753	c.1657A>T	c.(1657-1659)Agc>Tgc	p.S553C		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	553					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCAGGCGGTCAGCGTGGCCAT	0.701000													4	52					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121424683	121424683	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:121424683C>T	ENST00000260197.7	+	17	2433	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	768					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGAGGAAATCCATCTACCGCT	0.562000													94	10					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339188	25339188	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:25339188C>T	ENST00000546682.1	+	0	1110				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-24_ENST00000384549.1_RNA	NR_003361.1																						GTGCATGGATCGATGATGACT	0.423000													60	59					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330486	75330486	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:75330486G>A	ENST00000556084.2	-	1	51	c.52C>T	c.(52-54)Cta>Tta	p.L18L	PROX2_ENST00000445876.1_Silent_p.L18L|PROX2_ENST00000556489.2_Silent_p.L18L	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	18					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCTTCTGCTAGGTGGGAGCAG	0.557000													30	32					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752545	151752545	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:151752545G>A	ENST00000368822.1	-	4	936	c.303C>T	c.(301-303)atC>atT	p.I101I	TDRKH_ENST00000458431.2_Silent_p.I101I|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Silent_p.I101I|TDRKH_ENST00000368823.1_Silent_p.I97I|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368824.3_Silent_p.I101I|TDRKH_ENST00000368827.6_Silent_p.I101I			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	101	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAAACCACTGATAAGCAGCA	0.502000													61	62					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006024	118006024	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:118006024A>T	ENST00000310754.4	-	1	712	c.526T>A	c.(526-528)Tgg>Agg	p.W176R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	176	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GCATGAAACCAGTAAGCCAAC	0.418000													29	56					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398364	10398364	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:10398364T>C	ENST00000393717.2	+	2	556	c.547T>C	c.(547-549)Ttc>Ctc	p.F183L	ICAM4_ENST00000340992.4_Missense_Mutation_p.L157P|ICAM4_ENST00000380770.3_Missense_Mutation_p.F183L|CTD-2369P2.8_ENST00000589379.1_RNA	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	183	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTGGAGCGCTTCACCGGCCT	0.622000													15	31					0	0	1	0	0
TMEM41B	440026	broad.mit.edu	37	11	9305129	9305129	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:9305129G>A	ENST00000528080.1	-	7	1056	c.718C>T	c.(718-720)Cct>Tct	p.P240S	TMEM41B_ENST00000527813.1_Silent_p.L193L	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	240						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		ACAAAAGAAGGAGGTGCGACA	0.338000													12	10					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681040	137681040	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:137681040C>T	ENST00000239906.5	+	4	1091	c.663C>T	c.(661-663)tcC>tcT	p.S221S	FAM53C_ENST00000434981.2_Silent_p.S221S|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	221										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATGCTGAGTCCTTGTCACCTT	0.652000													67	90					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100200661	100200661	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:100200661G>A	ENST00000209668.2	-	8	1138	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	342					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCATCCAATGAAAACTTCTT	0.333000													27	66					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727622	13727622	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:13727622G>A	ENST00000265104.4	-	70	12131	c.12027C>T	c.(12025-12027)atC>atT	p.I4009I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4009					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTACCTGGGCGATGGTTCTGT	0.338000									Kartagener syndrome				16	55					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209068	140209068	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:140209068G>A	ENST00000529310.1	+	1	1506	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.V464V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTTCGTGAAGGAGAACA	0.652000													35	41					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87025668	87025668	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:87025668T>G	ENST00000370563.3	+	2	255	c.213T>G	c.(211-213)ttT>ttG	p.F71L	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	71						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAAAAAGATTTTTTTTCAAAA	0.333000													6	75					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84562508	84562508	+	RNA	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:84562508C>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CCCCAAAAAACCATCTCTTGC	0.478000													9	35					0.00829132	0.00829782	1	1	0
CACNB4	785	broad.mit.edu	37	2	152830202	152830202	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:152830202C>T	ENST00000360283.6	-	1	283	c.26G>A	c.(25-27)gGa>gAa	p.G9E	CACNB4_ENST00000539935.1_Intron|CACNB4_ENST00000534999.1_Missense_Mutation_p.G9E|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_5'UTR|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000201943.5_Intron			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	0					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GTCTTCAATTCCATGCAGGTA	0.458000													8	13					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106053512	106053512	+	RNA	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106053512T>G	ENST00000390539.2	-	0	784																											AGTCAGGTACTTCTCGCGGGG	0.647000													7	23					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228364	3228364	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrX:3228364C>T	ENST00000217939.6	-	7	8034	c.7880G>A	c.(7879-7881)aGg>aAg	p.R2627K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2627	Ig-like C2-type 10.					extracellular region		p.R2627K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGACCAGCCTCTCCGTGTG	0.602000													29	1					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411369	5411369	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:5411369C>T	ENST00000328611.3	+	1	763	c.741C>T	c.(739-741)cgC>cgT	p.R247R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	247						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGCAGCGCCGTGCCTTTC	0.572000													20	44					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47220595	47220595	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:47220595C>T	ENST00000319190.5	+	6	1139	c.771C>T	c.(769-771)atC>atT	p.I257I	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000394850.2_Silent_p.I257I|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.I223I	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	257							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCAGGAACATCGTGAAGGGCA	0.562000													51	31					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1581861	1581861	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:1581861A>C	ENST00000572621.1	-	12	2070	c.1805T>G	c.(1804-1806)aTt>aGt	p.I602S	PRPF8_ENST00000304992.6_Missense_Mutation_p.I602S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	602						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCACATGCGAATCTGTCGCAT	0.428000													22	122					0	0	1	0	0
MZB1	51237	broad.mit.edu	37	5	138724328	138724328	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:138724328G>A	ENST00000457570.2	-	2	246	c.206C>T	c.(205-207)cCc>cTc	p.P69L	MZB1_ENST00000302125.8_Intron|MZB1_ENST00000412103.2_Intron			Q8WU39	PERP1_HUMAN	marginal zone B and B1 cell-specific protein	0					apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding										CTCAGTTAGGGGGAGGTGGGG	0.557000													3	2					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734242	28734242	+	RNA	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:28734242C>T	ENST00000550043.1	+	0	647																											TGCAGAATTTCTGAAAGTTTT	0.507000													11	10					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620710	26620710	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:26620710T>C	ENST00000374222.1	-	9	1009	c.545A>G	c.(544-546)aAg>aGg	p.K182R	UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.K182R|UBXN11_ENST00000357089.4_Missense_Mutation_p.K149R|UBXN11_ENST00000374217.2_Missense_Mutation_p.K149R|UBXN11_ENST00000436301.2_Missense_Mutation_p.K107R|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000535108.1_Missense_Mutation_p.K24R			Q5T124	UBX11_HUMAN	UBX domain protein 11	182						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTCCAGAACTTCTTGGCTGT	0.592000													15	135					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30058574	30058574	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr15:30058574T>G	ENST00000346128.6	-	5	958	c.484A>C	c.(484-486)Agt>Cgt	p.S162R	TJP1_ENST00000495972.2_Missense_Mutation_p.S162R|TJP1_ENST00000545208.2_Missense_Mutation_p.S162R|TJP1_ENST00000400011.2_Missense_Mutation_p.S166R|TJP1_ENST00000356107.6_Missense_Mutation_p.S162R	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	162					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTCTCTCTACTTGCACTTCTA	0.498000													11	51					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222399	8222399	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr17:8222399G>A	ENST00000361926.3	+	13	2218	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.G703E|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	703					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GATCCATCTGGACCCCCTACC	0.607000													93	3					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037099	47037099	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:47037099C>T	ENST00000450053.3	+	13	2053	c.1874C>T	c.(1873-1875)cCa>cTa	p.P625L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.P625L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	625							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCACCCGACCACTCCAGCGA	0.627000													14	30					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110755	72110755	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr16:72110755C>T	ENST00000540303.2	+	5	854	c.822C>T	c.(820-822)ccC>ccT	p.P274P	HPR_ENST00000228226.8_Silent_p.P311P|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.P274P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	274	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGGTGCAGCCCATACTGAACG	0.552000													48	2					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130312089	130312089	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:130312089G>A	ENST00000358511.6	+	16	4494	c.4463G>A	c.(4462-4464)gGa>gAa	p.G1488E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1488E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1488	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAGATGAGGGATCTCAGGTA	0.363000													39	1					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16643866	16643866	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:16643866G>A	ENST00000546361.2	-	4	629	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.L160F	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	160	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGCTGCAGGAGGTTGTCAAAC	0.627000													3	3					0	0	1	0	0
NMNAT1	64802	broad.mit.edu	37	1	10042620	10042620	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:10042620A>T	ENST00000377205.1	+	5	845	c.701A>T	c.(700-702)cAg>cTg	p.Q234L		NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	234					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAGGGGCCAGAGCATTCGC	0.473000													18	104					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35694453	35694453	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr5:35694453G>A	ENST00000356031.3	+	13	2117	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	SPEF2_ENST00000509059.1_Intron|SPEF2_ENST00000440995.2_Intron|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	655			E -> G (in dbSNP:rs12332369).		nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACAGAAGGTGAAACAATGCT	0.368000													10	13					0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16835115	16835115	+	Silent	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chrY:16835115C>T	ENST00000297967.5	+	3	750	c.651C>T	c.(649-651)atC>atT	p.I217I	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	197					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GGAACGTCATCGTTATCACCA	0.418000													55	1					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328504	74328504	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:74328504T>A	ENST00000409262.3	+	9	4184	c.4184T>A	c.(4183-4185)cTg>cAg	p.L1395Q		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1395							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGCCCAGCCTGACTGAGAAG	0.632000													13	32					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866576	106866576	+	RNA	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:106866576G>A	ENST00000390618.2	-	0	255																											CCCTTCCCTGGAGCCTGGCGG	0.567000													28	214					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100925672	100925672	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr2:100925672G>A	ENST00000393437.3	-	2	1334	c.695C>T	c.(694-696)tCa>tTa	p.S232L	LONRF2_ENST00000409647.1_5'UTR	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	232					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CAGCAATAATGAATTATCATC	0.363000													15	39					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637012	23637012	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:23637012T>C	ENST00000478691.1	-	10	1814	c.1543A>G	c.(1543-1545)Aac>Gac	p.N515D	HNRNPR_ENST00000606561.1_Missense_Mutation_p.N474D|HNRNPR_ENST00000426846.2_Missense_Mutation_p.N453D|HNRNPR_ENST00000427764.2_Missense_Mutation_p.N575D|HNRNPR_ENST00000374616.3_Missense_Mutation_p.N616D|HNRNPR_ENST00000374612.1_Missense_Mutation_p.N613D|HNRNPR_ENST00000302271.6_Missense_Mutation_p.N613D|HNRNPR_ENST00000476660.1_5'UTR	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	613	RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TAACCATAGTTACCAGAATAG	0.463000													32	194					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39550907	39550907	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr13:39550907C>A	ENST00000379631.4	-	2	424	c.80G>T	c.(79-81)tGt>tTt	p.C27F	STOML3_ENST00000423210.1_Missense_Mutation_p.C18F	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	27						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GATCCAGCCACATACACCAAG	0.448000													13	10					7.03913e-09	7.06794e-09	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36321847	36321847	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:36321847C>T	ENST00000378910.5	-	28	3492	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1125K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1165	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCATCTTCACCTGTGAAA	0.562000													44	47					0	0	1	0	0
C14orf80	283643	broad.mit.edu	37	14	105958612	105958612	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr14:105958612G>A	ENST00000329886.7	+	4	531	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	C14orf80_ENST00000354560.6_Missense_Mutation_p.R132Q|C14orf80_ENST00000334656.7_Missense_Mutation_p.R91Q|C14orf80_ENST00000551054.1_3'UTR|C14orf80_ENST00000392523.4_Missense_Mutation_p.R132Q|C14orf80_ENST00000450383.1_Missense_Mutation_p.R6Q|C14orf80_ENST00000392522.3_Missense_Mutation_p.R132Q|C14orf80_ENST00000392527.1_Missense_Mutation_p.R91Q	NM_001198983.1	NP_001185912.1	Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	132										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		GCCCAGGCCCGAGTGCCTCTG	0.667000													41	69					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50367354	50367354	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:50367354G>A	ENST00000331340.3	+	3	315		c.e3+1		IKZF1_ENST00000440768.2_Splice_Site|IKZF1_ENST00000359197.5_Splice_Site|IKZF1_ENST00000357364.4_Splice_Site|IKZF1_ENST00000438033.1_Splice_Site|IKZF1_ENST00000413698.1_Splice_Site|IKZF1_ENST00000439701.1_Splice_Site|IKZF1_ENST00000492782.1_Splice_Site|IKZF1_ENST00000349824.4_Splice_Site|IKZF1_ENST00000346667.4_Splice_Site|IKZF1_ENST00000343574.5_Splice_Site	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)						cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGTCGTGGGTAAGTGGGTC	0.522000			"""D,T"""	BCL6	"""ALL, DLBCL"""								8	11					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958145	119958145	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:119958145G>A	ENST00000543831.1	+	2	352	c.103G>A	c.(103-105)Gac>Aac	p.D35N	HSD3B2_ENST00000369416.3_Missense_Mutation_p.D35N|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	35					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CAGGGCCTTGGACAAGGCCTT	0.532000													64	47					0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524089	108524089	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr7:108524089G>A	ENST00000379007.2	-	2	377	c.323C>T	c.(322-324)tCt>tTt	p.S108F		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	108						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CTTTGGAAAAGATTTTGCATA	0.328000													15	24					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184985	167184985	+	Silent	SNP	G	G	A			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:167184985G>A	ENST00000476257.1	-	4	634	c.336C>T	c.(334-336)taC>taT	p.Y112Y	SERPINI2_ENST00000461846.1_Silent_p.Y112Y|SERPINI2_ENST00000264677.4_Silent_p.Y112Y|SERPINI2_ENST00000471111.1_Silent_p.Y112Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	112					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTTCTTGAAGGTAGAGGGCAT	0.353000													34	59					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47759202	47759202	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:47759202A>C	ENST00000360380.3	-	9	1163	c.800T>G	c.(799-801)aTt>aGt	p.I267S	STIL_ENST00000243182.6_Missense_Mutation_p.I267S|STIL_ENST00000396221.2_Missense_Mutation_p.I267S|STIL_ENST00000371877.3_Missense_Mutation_p.I267S|STIL_ENST00000337817.5_Missense_Mutation_p.I267S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	267					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GATATGTGTAATTCCAGACAG	0.318000													7	110					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54610386	54610386	+	Silent	SNP	G	G	A	rs150004831		TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:54610386G>A	ENST00000371330.1	-	2	1027	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	60	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGGCCACCACGATCAGCCAGC	0.557000													9	39					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctg>ct	p.LK116del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	116					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													7	137	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145580324	145580324	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:145580324delT	ENST00000369299.3	+	6	897	c.779delT	c.(778-780)ggfs	p.V260fs	PIAS3_ENST00000393045.2_Splice_Site|PIAS3_ENST00000369298.1_Splice_Site			Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	277	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCGGACGGGTGAGCACAGCT	0.552													17	121	---	---	---	---					
C1orf74	148304	broad.mit.edu	37	1	209956724	209956724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr1:209956724delG	ENST00000294811.1	-	2	512	c.256delC	c.(256-258)ttfs	p.L86fs		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	86										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CCAATCTCAAGGATGTGAAGT	0.507													18	23	---	---	---	---					
SATB1	6304	broad.mit.edu	37	3	18428094	18428094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:18428094delA	ENST00000338745.6	-	8	2950	c.1216delT	c.(1216-1218)cafs	p.S406fs	SATB1_ENST00000454909.2_Frame_Shift_Del_p.S406fs|SATB1_ENST00000417717.2_Frame_Shift_Del_p.S406fs|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	406	Matrix attachment region (MAR) DNA- binding.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGGATTTCTGAAAGCAAGCCC	0.507													13	32	---	---	---	---					
PLCH1	23007	broad.mit.edu	37	3	155200519	155200519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr3:155200519delA	ENST00000460012.1	-	23	3563	c.3206delT	c.(3205-3207)acfs	p.I1069fs	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.I1069fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.I1107fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.I1069fs			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1107					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTTTTCCTTGATTTTCACACC	0.478													14	173	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													4	5	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46656773	46656781	+	In_Frame_Del	DEL	GGGAGGAGA	GGGAGGAGA	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr6:46656773_46656781delGGGAGGAGA	ENST00000544460.1	+	1	1162_1170	c.908_916delGGGAGGAGA	c.(907-918)tgg>t	p.WEER303del	TDRD6_ENST00000316081.6_In_Frame_Del_p.WEER303del	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	303					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTGCCACCTGGGAGGAGAGGGAGGAGAG	0.622													15	40	---	---	---	---					
ATP6V0D2	245972	broad.mit.edu	37	8	87162450	87162450	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr8:87162450delA	ENST00000285393.3	+	6	891	c.749delA	c.(748-750)ggfs	p.E250fs	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	250					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CTCTATCCTGAGGGGTTGCGG	0.478													13	99	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													4	8	---	---	---	---					
OR4C6	219432	broad.mit.edu	37	11	55433386	55433386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:55433386delC	ENST00000314259.3	+	1	773	c.744delC	c.(742-744)ttfs	p.F249fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTGTATTGTTCTTTGTCCCCT	0.502													34	117	---	---	---	---					
TRIM29	23650	broad.mit.edu	37	11	119998107	119998107	+	Frame_Shift_Del	DEL	C	C	-	rs142021032	byFrequency	TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr11:119998107delC	ENST00000341846.5	-	3	1492	c.1071delG	c.(1069-1071)ctfs	p.L357fs	TRIM29_ENST00000541857.1_Frame_Shift_Del_p.L90fs|TRIM29_ENST00000529044.1_Frame_Shift_Del_p.L96fs	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	357					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGTCCTCATGCAGCACCTTGG	0.557													30	46	---	---	---	---					
ZNF625	90589	broad.mit.edu	37	19	12256895	12256896	+	Frame_Shift_Ins	INS	-	-	AGGG			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:12256895_12256896insAGGG	ENST00000355738.1	-	4	486_487	c.137_138insCCCT	c.(136-138)caafs	p.Q46fs	ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.Q46fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.Q112fs|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GGTGCCTATTAAGGGATGCATG	0.446													28	54	---	---	---	---					
ZNF28	7576	broad.mit.edu	37	19	53303367	53303367	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D9-A6EC-06A-11D-A30X-08	TCGA-D9-A6EC-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37899624-d836-4d55-92e0-edfc1b55a1dc	a9f39989-0e6a-47aa-83f3-e5d08f119c96	g.chr19:53303367delT	ENST00000438150.2	-	2	2465	c.1572delA	c.(1570-1572)aafs	p.K524fs	ZNF28_ENST00000414252.2_Frame_Shift_Del_p.K524fs|ZNF28_ENST00000457749.2_Frame_Shift_Del_p.K577fs|ZNF28_ENST00000360272.4_Frame_Shift_Del_p.K524fs			P17035	ZNF28_HUMAN	zinc finger protein 28	577			M -> T (in dbSNP:rs8107444).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGTACGGTTTCTCTCCAG	0.418													18	224	---	---	---	---