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
LRP1	4035	broad.mit.edu	37	12	57553625	57553625	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57553625G>A	ENST00000243077.3	+	12	2282	c.1816G>A	c.(1816-1818)Ggt>Agt	p.G606S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	606					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAATGTGGAGGGTGTGGCCGT	0.577000													25	85					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69725771	69725771	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:69725771G>A	ENST00000349945.1	+	14	3313	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	NFAT5_ENST00000432919.1_Silent_p.Q681Q|NFAT5_ENST00000566899.1_Silent_p.Q587Q|NFAT5_ENST00000393742.2_Silent_p.Q587Q|NFAT5_ENST00000567239.1_Silent_p.Q680Q|NFAT5_ENST00000354436.2_Silent_p.Q663Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	663					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						AAAAACAGCAGCAGATTCAGC	0.438000													9	95					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149642	34149642	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:34149642G>C	ENST00000346193.3	-	1	805	c.754C>G	c.(754-756)Ccc>Gcc	p.P252A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	252	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						CGAGTGATGGGAGGCCCCGGG	0.632000													20	71					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945893	88945893	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:88945893G>A	ENST00000556564.1	-	13	2166	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	PTPN21_ENST00000328736.3_Missense_Mutation_p.R628C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	628						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCGCGTGGCGCGCGGCGGTG	0.711000													17	44					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794268	109794268	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:109794268C>T	ENST00000271332.3	+	1	1628	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	523	Cadherin 4.				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)		CTTAGGCTACCTGGTTCTCCA	0.562000													19	113					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811145	123811145	+	Silent	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:123811145A>G	ENST00000307033.2	+	1	896	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTCTGTGCTATACACAATTG	0.488000													16	131					0	0	1	0	0
FOSL1	8061	broad.mit.edu	37	11	65660431	65660431	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:65660431G>T	ENST00000312562.2	-	4	928	c.742C>A	c.(742-744)Cat>Aat	p.H248N	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.H212N|FOSL1_ENST00000448083.2_Missense_Mutation_p.H146N	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	248					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CTCTTGCGATGAGCTGAGGCA	0.612000													12	82					5.50884e-06	5.74128e-06	1	1	0
TRPV4	59341	broad.mit.edu	37	12	110226428	110226428	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:110226428T>A	ENST00000418703.2	-	12	2079	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	TRPV4_ENST00000346520.2_Missense_Mutation_p.D602V|TRPV4_ENST00000261740.2_Missense_Mutation_p.D662V|TRPV4_ENST00000392719.2_Missense_Mutation_p.D615V|TRPV4_ENST00000541794.1_Missense_Mutation_p.D615V|TRPV4_ENST00000537083.1_Missense_Mutation_p.D602V|TRPV4_ENST00000536838.1_Missense_Mutation_p.D628V|TRPV4_ENST00000544971.1_Missense_Mutation_p.D555V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	662					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGTCTCGCTGTCACGGCACGA	0.597000													17	179					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595385	167595385	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:167595385G>C	ENST00000366832.2	+	8	1174	c.1043G>C	c.(1042-1044)aGa>aCa	p.R348T		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	348										endometrium(1)|kidney(2)|lung(3)	6						GCTCCCTCCAGACAGGACATG	0.522000													9	16					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93547975	93547975	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:93547975C>T	ENST00000394196.4	+	34	5475	c.4407C>T	c.(4405-4407)ttC>ttT	p.F1469F	CHD2_ENST00000557381.1_Silent_p.F1469F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1469					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGGAGACATTCAGCATAGTAA	0.512000													36	69					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35707817	35707817	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:35707817G>C	ENST00000314888.9	-	35	4896	c.4543C>G	c.(4543-4545)Cgt>Ggt	p.R1515G	TLN1_ENST00000540444.1_Missense_Mutation_p.R1515G|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1515	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGTGGTACGGGCAGAAGCC	0.542000													21	179					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754892	29754892	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:29754892G>A	ENST00000389048.3	-	4	1949	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	348	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)	CACCGAGACGGCCAGTGTGCA	0.592000			"""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				9	79					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66322064	66322064	+	RNA	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:66322064G>A	ENST00000502692.1	+	0	772				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	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						GCACCGTACCGCAACGTCAAC	0.587000													6	24					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594317	140594317	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140594317G>A	ENST00000341948.4	+	1	809	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		208	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAAGCTGAGCTCAGGTT	0.562000													5	116					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712553	1712553	+	Silent	SNP	G	G	T	rs145575351		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:1712553G>T	ENST00000313871.3	+	2	394	c.198G>T	c.(196-198)acG>acT	p.T66T	AKAP17A_ENST00000381261.3_Silent_p.T66T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	66					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGTTCTCCACGCTGCGTATTT	0.592000													28	254					3.73148e-12	4.06024e-12	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8745842	8745842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:8745842C>T	ENST00000378641.3	+	26	3242	c.2767C>T	c.(2767-2769)Caa>Taa	p.Q923*	PLCB1_ENST00000338037.6_Nonsense_Mutation_p.Q923*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Q923*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	923					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						TGTGAAACTTCAAAAGAAACA	0.378000													6	40					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475982	108475982	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:108475982C>T	ENST00000295755.6	-	1	249	c.51G>A	c.(49-51)ctG>ctA	p.L17L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	17					cell proliferation	extracellular region	hormone activity	p.L17L(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCGGGTTGATCAGCTGGAGAA	0.522000													18	36					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818701	21818701	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:21818701C>T	ENST00000328843.6	+	58	9514	c.9483C>T	c.(9481-9483)atC>atT	p.I3161I	DNAH11_ENST00000409508.3_Silent_p.I3154I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3161	Stalk (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						AAAAGACCATCGCTGATGCTG	0.463000									Kartagener syndrome				6	34					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962366	34962366	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:34962366G>C	ENST00000329357.5	+	1	1454	c.1418G>C	c.(1417-1419)gGa>gCa	p.G473A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	473										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						GGAGACCTAGGAGTTAATGAA	0.453000													15	135					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216495239	216495239	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:216495239T>C	ENST00000366943.2	-	9	2016	c.1630A>G	c.(1630-1632)Act>Gct	p.T544A	USH2A_ENST00000307340.3_Missense_Mutation_p.T544A|USH2A_ENST00000366942.3_Missense_Mutation_p.T544A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	544	Laminin EGF-like 1.				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)		AGTCCTTCAGTGAAGCTCTCC	0.413000										HNSCC(13;0.011)			13	72					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41975692	41975692	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41975692C>G	ENST00000269095.4	-	3	392	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.E75Q|MPP2_ENST00000377184.3_Missense_Mutation_p.E47Q|MPP2_ENST00000461854.1_Missense_Mutation_p.E30Q|MPP2_ENST00000536246.1_Missense_Mutation_p.E19Q|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000523501.1_Missense_Mutation_p.E19Q	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	30	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGTCCAGCTCTGCAGCCCCC	0.592000													6	42					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9077436	9077436	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:9077436C>T	ENST00000457346.2	-	10	1185	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	SCUBE2_ENST00000450649.2_Missense_Mutation_p.D371N|SCUBE2_ENST00000520467.1_Missense_Mutation_p.D371N|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.D371N			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	371	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAGGTCCTATCCAAAGAGCAC	0.498000													16	200					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313706	54313706	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:54313706C>T	ENST00000324134.6	-	3	1375	c.1207G>A	c.(1207-1209)Gtc>Atc	p.V403I	NLRP12_ENST00000535162.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V403I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V403I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V403I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	403	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	p.V403F(1)		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)		ACCAGGGGGACGAAGCACATG	0.557000													46	258					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587459	55587459	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:55587459G>A	ENST00000333976.4	+	1	374	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	118			V -> M (in dbSNP:rs11231180).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATTAGCTGTGATGGCCTATG	0.443000													32	174					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158650472	158650472	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:158650472G>A	ENST00000368148.3	-	5	759	c.579C>T	c.(577-579)acC>acT	p.T193T	SPTA1_ENST00000368147.3_Silent_p.T193T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	193					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)					GCAGAACTTCGGTGCGCTCCC	0.463000													8	63					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224897	45224897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:45224897C>T	ENST00000279027.4	-	5	711	c.693G>A	c.(691-693)tgG>tgA	p.W231*	SLC13A3_ENST00000413164.2_Missense_Mutation_p.G209E|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000372121.1_Missense_Mutation_p.G209E|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W184*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	231						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGAAGCCCTTCCAGATGTTCC	0.552000													13	122					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	22					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57860075G>T	ENST00000228682.2	+	8	906	c.815G>T	c.(814-816)tGg>tTg	p.W272L	GLI1_ENST00000543426.1_Missense_Mutation_p.W144L|GLI1_ENST00000546141.1_Missense_Mutation_p.W231L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597000													38	244					5.04308e-16	5.5609e-16	1	1	0
OR51A7	119687	broad.mit.edu	37	11	4929490	4929490	+	Silent	SNP	A	A	G	rs145385072		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:4929490A>G	ENST00000359350.4	+	1	891	c.891A>G	c.(889-891)caA>caG	p.Q297Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		AGACTCGACAAATCTGGGAGA	0.408000													8	90					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831646	110831646	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:110831646G>A	ENST00000375820.4	-	30	2437	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	772	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGTCCGATCGCTCCAT	0.577000													41	115					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21097543	21097543	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:21097543C>G	ENST00000377122.4	-	26	3053	c.2657G>C	c.(2656-2658)aGc>aCc	p.S886T	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	886	Linker.				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						GAAAGTACTGCTGGAATGGGA	0.443000													10	88					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912107	23912107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:23912107C>A	ENST00000382298.3	-	10	6496	c.5908G>T	c.(5908-5910)Gga>Tga	p.G1970*	SACS_ENST00000382292.3_Nonsense_Mutation_p.G1970*|SACS_ENST00000402364.1_Nonsense_Mutation_p.G1220*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1970					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)		TTCCCTTTTCCATGAGCTATA	0.358000													3	42					1	1	1	1	0
CCNJ	54619	broad.mit.edu	37	10	97816658	97816658	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:97816658G>A	ENST00000265992.5	+	4	848	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.E161K|CCNJ_ENST00000465148.2_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	161						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGCAGTACACGAAACAGATCT	0.413000													14	65					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598261	175598261	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:175598261G>C	ENST00000274093.3	-	7	1397	c.895C>G	c.(895-897)Cag>Gag	p.Q299E	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q299E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	299					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)	CCTGAACTCTGTGTAGTCATC	0.448000													3	33					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77092692	77092692	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:77092692C>T	ENST00000563290.1	-	7	603	c.508G>A	c.(508-510)Gca>Aca	p.A170T	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.A170T			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	169						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTTCCCATGCCAATGATGTT	0.363000													3	30					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100709390	100709390	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:100709390G>A	ENST00000360820.2	+	9	1587	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	384					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						TGTAAACCCTGACATGGTACC	0.328000													7	68					0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43108867	43108867	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:43108867C>T	ENST00000372904.3	+	3	371	c.228C>T	c.(226-228)ctC>ctT	p.L76L	TTPAL_ENST00000262605.4_Silent_p.L76L|TTPAL_ENST00000372906.2_Silent_p.L76L	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	76						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GCACATCCCTCGACGATGCCT	0.597000													7	52					0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36142542	36142542	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:36142542C>T	ENST00000449924.2	-	11	1191	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	RBFOX2_ENST00000262829.7_Missense_Mutation_p.A313T|RBFOX2_ENST00000414461.2_Silent_p.P321P|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A406T|RBFOX2_ENST00000359369.4_Silent_p.P321P|RBFOX2_ENST00000405409.2_Silent_p.P318P|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A312T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A331T			O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	345	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						gcggctgcagcggctgcagca	0.527000													16	78					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846413	58846413	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:58846413C>T	ENST00000329665.4	+	2	392	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	82	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAGCCCGAGGCGCACTCCAAG	0.667000													5	73					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998227	29998227	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:29998227G>A	ENST00000308893.4	+	16	3677	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.E705E|TAOK2_ENST00000543033.1_Silent_p.E765E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	878	Glu-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						AGGAGGATGAGAGTCTTCTGG	0.597000													10	52					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70812088	70812088	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:70812088G>A	ENST00000322773.4	+	16	1354	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G40R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	418	Triple-helical region 2 (COL2).				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						AGGACCTCCCGGAAAACCAGG	0.378000													8	79					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3262362	3262362	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:3262362G>C	ENST00000252032.9	-	28	2604	c.2537C>G	c.(2536-2538)tCa>tGa	p.S846*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	846										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTTGACATTTGAGTCTGGGTG	0.488000													8	97					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743800	179743800	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:179743800C>G	ENST00000253778.8	-	12	1285	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	372	SIS 1.				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)	CACAGCCAATCACGATGAGCC	0.572000													4	41					0	0	1	0	0
TMED3	23423	broad.mit.edu	37	15	79606257	79606257	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:79606257C>G	ENST00000299705.5	+	2	515	c.327C>G	c.(325-327)ttC>ttG	p.F109L	TMED3_ENST00000424155.2_Missense_Mutation_p.F109L|TMED3_ENST00000536821.1_Missense_Mutation_p.F109L	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	109	GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						TTTCCACCTTCTCTCACAAGA	0.502000													21	86					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237209	56237209	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:56237209G>A	ENST00000312240.2	-	1	805	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F255L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAGATACATGAAGATCAGAG	0.493000													6	56					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38834102	38834102	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:38834102C>T	ENST00000302495.4	+	3	715	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	205	Serine protease.				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)			GCTCTGGGTTCATAGTGTCTG	0.507000													9	79					0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102968693	102968693	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:102968693G>C	ENST00000319560.6	+	3	465	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	92						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCTCTTTTTGAGCTTTATCC	0.453000													28	155					0	0	1	0	0
NRN1L	123904	broad.mit.edu	37	16	67919692	67919692	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:67919692C>T	ENST00000339176.3	+	2	246	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_5'UTR	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	49						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		ACCAGGGCTTCGCCGAGTGTC	0.652000													17	89					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293071	62293071	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62293071C>G	ENST00000378024.4	-	5	9092	c.8818G>C	c.(8818-8820)Gaa>Caa	p.E2940Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2940					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)				TCTGGTCCTTCAATGTTAACA	0.502000													56	268					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128263003	128263003	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:128263003G>C	ENST00000295321.4	-	3	735	c.476C>G	c.(475-477)tCt>tGt	p.S159C	IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S166C	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	159	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCAATCTCAGAATCACTGGC	0.463000													20	79					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69622516	69622516	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:69622516A>G	ENST00000374403.3	+	23	2672	c.2590A>G	c.(2590-2592)Aag>Gag	p.K864E	KIF4A_ENST00000374388.3_Missense_Mutation_p.K864E	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	864	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGGAAGCCAAGTGTGCCCT	0.463000													6	24					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23934385	23934385	+	Silent	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:23934385T>C	ENST00000379211.3	+	5	912	c.363T>C	c.(361-363)caT>caC	p.H121H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	121										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTTTCTTCATACTGATGGCC	0.318000													7	19					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158397619	158397619	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:158397619C>T	ENST00000243349.7	-	7	1568	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q	ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323Q|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353Q|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246Q	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	403	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGAACACCTCCGGGCTATTTC	0.388000													11	72					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	79					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1498917	1498917	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:1498917C>G	ENST00000297508.7	-	1	221	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	MICALL2_ENST00000405088.4_Missense_Mutation_p.E16Q	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	16	CH.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CGGTAGCCCTCGCACTGCTGC	0.701000													4	22					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989412	120989412	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:120989412C>T	ENST00000392793.1	+	7	1459	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	TECTA_ENST00000264037.2_Silent_p.S396S			O75443	TECTA_HUMAN	tectorin alpha	396	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCAAAGGAAGCTATGGAAGAG	0.522000													23	77					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131870200	131870200	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:131870200C>G	ENST00000318080.2	-	2	478	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	CRAT_ENST00000393384.3_Missense_Mutation_p.E62Q|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	62					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGGGCCCACTCCTCCTCACTC	0.657000													10	74					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960759	73960759	+	Silent	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:73960759T>A	ENST00000373468.1	-	3	4284	c.3633A>T	c.(3631-3633)ccA>ccT	p.P1211P	KIAA2022_ENST00000055682.5_Silent_p.P1211P			Q5QGS0	K2022_HUMAN	KIAA2022	1211					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						TTTTGCCAGGTGGTTTTTCAA	0.468000													7	54					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164748501	164748501	+	Splice_Site	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:164748501G>A	ENST00000264382.3	-	25	2953	c.2892_splice	c.e25+1	p.T964_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	964	Isomaltase.|P-type 2.				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)	TATTATTACCGTTCTCCATAC	0.299000										HNSCC(35;0.089)			27	44					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911996	100911996	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:100911996C>T	ENST00000328766.5	-	5	1032	c.579G>A	c.(577-579)gtG>gtA	p.V193V	ARMCX2_ENST00000356824.4_Silent_p.V193V|ARMCX2_ENST00000330154.2_Silent_p.V193V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	193	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GACCCTCGGTCACCTCAGTGG	0.652000													16	63					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167944229	167944229	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:167944229G>A	ENST00000367840.3	+	4	508	c.414G>A	c.(412-414)acG>acA	p.T138T	DCAF6_ENST00000432587.2_Silent_p.T107T|DCAF6_ENST00000367843.3_Silent_p.T138T|DCAF6_ENST00000312263.6_Silent_p.T138T|DCAF6_ENST00000470919.1_3'UTR	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	138					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						GCCAATTTACGTGTCATTATG	0.313000													12	64					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735784	158735784	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:158735784G>C	ENST00000335094.2	-	1	708	c.689C>G	c.(688-690)tCa>tGa	p.S230*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCCGGCAGCTGAGGGAATTCT	0.498000													22	116					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474743	5474743	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:5474743C>G	ENST00000341449.2	+	1	106	c.25C>G	c.(25-27)Cct>Gct	p.P9A	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	9					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)		TGTCACTCACCCTGCATTCTT	0.507000													6	68					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228847	47228847	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:47228847G>A	ENST00000391910.3	-	10	1778	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	STRN4_ENST00000539396.1_Missense_Mutation_p.S317L|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.S436L			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	436						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTCGTAGTGCGAGCGCAGGGT	0.602000													12	69					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101103624	101103624	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:101103624C>T	ENST00000369162.2	-	17	3118	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGCTCTCATCCGTACATAAAG	0.338000													7	65					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135455200	135455200	+	Missense_Mutation	SNP	T	T	G	rs145241863		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:135455200T>G	ENST00000394143.1	+	15	8044	c.7753T>G	c.(7753-7755)Tat>Gat	p.Y2585D	GPR112_ENST00000412101.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000370652.1_Missense_Mutation_p.Y2585D|GPR112_ENST00000287534.4_Missense_Mutation_p.Y2383D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2585					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)					CATTCACTCCTATGAAGAAGG	0.537000													29	302					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584120	42584120	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:42584120G>A	ENST00000600245.1	+	2	2017	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.E544E|ZNF574_ENST00000359044.4_Silent_p.E454E			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	454					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)				CTGTGTCTGAGGAGACCTCAG	0.632000													10	93					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917869	11917869	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:11917869C>G	ENST00000323169.5	+	3	1432	c.1101C>G	c.(1099-1101)gtC>gtG	p.V367V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TTCATTGTGTCAGCTCCTTTC	0.403000													10	56					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135455215	135455215	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:135455215G>C	ENST00000394143.1	+	15	8059	c.7768G>C	c.(7768-7770)Gac>Cac	p.D2590H	GPR112_ENST00000412101.1_Missense_Mutation_p.D2385H|GPR112_ENST00000394141.1_Missense_Mutation_p.D2385H|GPR112_ENST00000370652.1_Missense_Mutation_p.D2590H|GPR112_ENST00000287534.4_Missense_Mutation_p.D2388H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2590					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)					AGAAGGCACAGACCCTGAGGT	0.552000													27	270					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72277669	72277669	+	RNA	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:72277669C>G	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTTGGTGTCTCTGTGATGCAA	0.512000													6	27					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216136	55216136	+	Silent	SNP	T	T	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:55216136T>G	ENST00000340465.2	+	5	542	c.456T>G	c.(454-456)ctT>ctG	p.L152L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	152						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)			CCTCTTACCTTAAAGCTTGCT	0.443000													8	174					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43692470	43692470	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:43692470C>G	ENST00000395809.1	-	11	3808	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K434N|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K442N			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	434	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCTGAATCTTCTTGTCCTTCT	0.537000													12	37					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800792	185800792	+	Silent	SNP	C	C	T	rs148931756	byFrequency	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:185800792C>T	ENST00000302277.6	+	4	1263	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	223						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						AGAAAGCGTCCGTGAAGCTAG	0.428000													12	49					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45533706	45533706	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:45533706C>G	ENST00000379161.4	-	7	877	c.831G>C	c.(829-831)aaG>aaC	p.K277N		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	277					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCCCCTTCATCTTGCTGGAGT	0.368000													14	104					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811135	123811135	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:123811135T>A	ENST00000307033.2	+	1	886	c.812T>A	c.(811-813)gTc>gAc	p.V271D		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACAAGGCCGTCTCTGTGCTA	0.493000													20	128					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111749772	111749772	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:111749772G>C	ENST00000524880.1	-	1	377	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E	FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q29E			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	329					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGGTAAGTTGAGTGCTCTGA	0.672000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	36					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123694622	123694622	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:123694622G>T	ENST00000606320.1	-	8	1381	c.1175C>A	c.(1174-1176)aCa>aAa	p.T392K	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.T240K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.T362K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.T240K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	240					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGACACATCTGTGGAAGACAA	0.493000													19	62					6.94344e-10	7.48922e-10	1	1	0
RB1	5925	broad.mit.edu	37	13	48936965	48936965	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:48936965C>G	ENST00000267163.4	+	8	871	c.733C>G	c.(733-735)Ccc>Gcc	p.P245A		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	245					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCTGTTATACCCATTAATGG	0.343000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	58					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41828539	41828539	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:41828539C>T	ENST00000269967.3	+	5	1073	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	317										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCTCGACATCGTGGCACGGG	0.617000													17	122					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21331013	21331013	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:21331013C>T	ENST00000399167.2	+	12	1344	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	AIFM3_ENST00000399163.2_Silent_p.F368F|AIFM3_ENST00000335375.5_Silent_p.F356F|AIFM3_ENST00000405089.1_Silent_p.F374F|AIFM3_ENST00000440238.2_Silent_p.F368F|AIFM3_ENST00000333607.6_Silent_p.F368F|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACGCCCTTCAGGAGGTTCC	0.692000													5	13					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38881948	38881948	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:38881948G>A	ENST00000396821.3	-	13	2287	c.2188C>T	c.(2188-2190)Cgt>Tgt	p.R730C	DDX17_ENST00000381633.3_Missense_Mutation_p.R651C|DDX17_ENST00000444597.1_Missense_Mutation_p.R180C	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	649					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTTCATTTACGTGAaggagga	0.453000													13	61					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979424	107979424	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:107979424G>A	ENST00000372129.2	-	1	227	c.151C>T	c.(151-153)Ccg>Tcg	p.P51S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	51						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATGGCTCCCGGACAAGACGAC	0.667000													13	124					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62376895	62376895	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62376895G>A	ENST00000394773.2	-	6	996	c.689C>T	c.(688-690)cCg>cTg	p.P230L	EML3_ENST00000531557.1_Missense_Mutation_p.P13L|EML3_ENST00000529309.1_Missense_Mutation_p.P230L|EML3_ENST00000278845.4_Missense_Mutation_p.P231L|EML3_ENST00000494176.2_Missense_Mutation_p.P202L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	230						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						GATGCCAGACGGGATGTACAT	0.582000													38	176					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464242	2464242	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:2464242G>A	ENST00000278772.4	-	6	1852	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GCGTCCGCTCGTGTATGATGA	0.522000													8	102					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199751	4199751	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:4199751G>A	ENST00000296358.4	-	5	834	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	270					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAAGGGGTAGAGGTAGTAGA	0.527000													6	82					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148586584	148586584	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:148586584C>T	ENST00000340855.6	-	1	293	c.84G>A	c.(82-84)acG>acA	p.T28T	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Silent_p.T28T|IDS_ENST00000370441.4_Silent_p.T28T|IDS_ENST00000370443.4_Silent_p.T28T|IDS_ENST00000541269.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	28						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGTTGGCCTGCGTTTCGGATC	0.647000													7	103					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84777021	84777021	+	Missense_Mutation	SNP	G	G	A	rs145235960		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:84777021G>A	ENST00000389394.3	+	9	1462	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	DNAH6_ENST00000237449.6_Missense_Mutation_p.R442H|DNAH6_ENST00000398278.2_Missense_Mutation_p.R442H	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	442	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGCTTTATTCGTCTAAACGAC	0.303000													8	23					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38305189	38305189	+	RNA	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:38305189A>G	ENST00000443402.2	-	0	90					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					AAGAAGACAAAGGTATGTTCC	0.423000													23	137					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70467620	70467620	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:70467620C>A	ENST00000373998.1	-	12	2809	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	ZMYM3_ENST00000353904.2_Missense_Mutation_p.E704D|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E706D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E706D|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E704D|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	704					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTACAGTCCTCACTGCAGA	0.592000													19	54					3.99206e-14	4.363e-14	1	1	0
BCAP31	10134	broad.mit.edu	37	X	152967530	152967530	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:152967530T>A	ENST00000458587.2	-	7	1264	c.835A>T	c.(835-837)Atg>Ttg	p.M279L	BCAP31_ENST00000345046.6_Missense_Mutation_p.M212L|BCAP31_ENST00000441714.1_Missense_Mutation_p.M212L|BCAP31_ENST00000477175.1_Intron	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	212					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCCGCATGGCCAGAACC	0.522000													13	40					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179810	65179810	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:65179810G>A	ENST00000310045.7	-	2	3539	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	679						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAGACATATGCAATTCTTGT	0.368000													6	30					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185290	154185290	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:154185290C>G	ENST00000360256.4	-	11	1894	c.1694G>C	c.(1693-1695)gGa>gCa	p.G565A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	565	F5/8 type A 2.|Plastocyanin-like 3.				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)	GCCAATGAGTCCTGAAGCTAG	0.463000													25	191					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087415	47087415	+	Missense_Mutation	SNP	G	G	A	rs147108354		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:47087415G>A	ENST00000374312.1	+	3	1051	c.632G>A	c.(631-633)cGc>cAc	p.R211H	NPY4R_ENST00000395716.1_Missense_Mutation_p.R211H	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GCTCACCACCGCACCATCTAC	0.582000													9	147					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182628	140182628	+	Missense_Mutation	SNP	G	G	A	rs142788061		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140182628G>A	ENST00000522353.2	+	1	1846	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	PCDHA3_ENST00000532566.2_Missense_Mutation_p.G616S|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	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)			GCCTGGGACCGGCGGTGCGCG	0.677000													22	98					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31818596	31818596	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:31818596G>A	ENST00000382902.1	-	6	941	c.849C>T	c.(847-849)agC>agT	p.S283S	OTUD7A_ENST00000307050.4_Silent_p.S276S			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	276	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGCGCGGCTCGCTGGAGGCCA	0.677000													4	9					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74273738	74273738	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:74273738G>T	ENST00000409262.3	+	1	289	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	97							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						GAGTCGTGAGGCTGGGAACAA	0.637000													5	48					0.014758	0.0149394	1	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42406962	42406962	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:42406962G>A	ENST00000599846.1	+	19	1945	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R533H|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R566H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R551H|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R518H			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	551					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CGGTGCCGCCGCCTGCAGCTG	0.667000													27	99					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122757984	122757984	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:122757984C>T	ENST00000245838.8	-	27	3276	c.3245G>A	c.(3244-3246)gGa>gAa	p.G1082E	THOC2_ENST00000355725.4_Missense_Mutation_p.G1082E|THOC2_ENST00000491737.1_Missense_Mutation_p.G967E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1082					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGCCTTATTTCCACCATCAAA	0.313000													4	62					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77818038	77818038	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:77818038C>T	ENST00000216468.7	-	2	230	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	59					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCAGGGTTCTGGATCGGTG	0.408000													16	96					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6750447	6750447	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:6750447G>A	ENST00000230859.6	+	10	1070	c.941G>A	c.(940-942)aGc>aAc	p.S314N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	314					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCCACAGACAGCAGGATCAAG	0.587000													21	78					0	0	1	0	0
TRAJ12	28743	broad.mit.edu	37	14	23000917	23000917	+	RNA	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:23000917C>T	ENST00000390525.1	+	0	29																											AATTGATCTTCGGGAGTGGGA	0.443000													6	101					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26270302	26270302	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:26270302A>C	ENST00000335473.7	+	23	4251	c.4001A>C	c.(4000-4002)aAg>aCg	p.K1334T	MYO18B_ENST00000407587.2_Missense_Mutation_p.K1335T|MYO18B_ENST00000536101.1_Missense_Mutation_p.K1334T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1334						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						CAGCGAGAGAAGCTGGTATCT	0.532000													21	45					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	288131	288131	+	Silent	SNP	C	C	T	rs139859911		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:288131C>T	ENST00000269812.3	-	2	142	c.93G>A	c.(91-93)ccG>ccA	p.P31P	PPAP2C_ENST00000434325.2_5'UTR|PPAP2C_ENST00000327790.3_Silent_p.P52P	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	31					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCTTGTACGGGGCGTTCA	0.622000													47	67					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152580789	152580789	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:152580789G>A	ENST00000427231.2	-	8	799	c.597C>T	c.(595-597)acC>acT	p.T199T	NEB_ENST00000172853.10_Silent_p.T199T|NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000409198.1_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T|NEB_ENST00000397345.3_Silent_p.T199T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	199					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)		TGAACATGGCGGTGTTCTTAA	0.453000													6	16					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42153283	42153283	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:42153283C>G	ENST00000269097.4	+	6	1144	c.913C>G	c.(913-915)Cag>Gag	p.Q305E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	305					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACCCCCCTCAGATCAGCCT	0.617000													11	109					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414511	73414511	+	Missense_Mutation	SNP	G	G	A	rs145300703		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:73414511G>A	ENST00000286657.4	-	3	224	c.188C>T	c.(187-189)gCg>gTg	p.A63V	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	63					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)			TTTGTGACTCGCAGAAAGAGT	0.448000													13	55					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991248	21991248	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:21991248T>C	ENST00000594012.1	-	7	2087	c.1573A>G	c.(1573-1575)Act>Gct	p.T525A	ZNF43_ENST00000598381.1_Missense_Mutation_p.T525A|ZNF43_ENST00000595461.1_Missense_Mutation_p.T525A|ZNF43_ENST00000354959.4_Missense_Mutation_p.T531A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCAGTATGAGTTATCTTATGT	0.348000													15	41					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142680152	142680152	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:142680152C>T	ENST00000343796.2	-	5	2638	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	NR3C1_ENST00000503201.1_Missense_Mutation_p.D549N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D550N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D549N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D523N|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000416954.2_Missense_Mutation_p.D152N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D550N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D549N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D550N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	549	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	ACAGAGCTATCATATCCTGCA	0.463000													27	150					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86378626	86378626	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:86378626C>T	ENST00000410111.3	-	12	1582	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	IMMT_ENST00000254636.5_Missense_Mutation_p.D300N|IMMT_ENST00000442664.2_Missense_Mutation_p.D398N|IMMT_ENST00000449247.2_Missense_Mutation_p.D388N|IMMT_ENST00000409051.2_Missense_Mutation_p.D352N	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	399						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCAGATCATCAGTAGAGAGC	0.408000													8	49					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892339	58892339	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:58892339G>C	ENST00000343597.3	+	4	960	c.769G>C	c.(769-771)Gat>Cat	p.D257H	FAM111B_ENST00000411426.1_Missense_Mutation_p.D227H|FAM111B_ENST00000529618.1_Missense_Mutation_p.D227H	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	257							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTCCATGGTGGATGAAGTATC	0.343000													14	46					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177067180	177067180	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:177067180G>C	ENST00000393643.2	+	12	1816	c.1564G>C	c.(1564-1566)Gtt>Ctt	p.V522L	WDR17_ENST00000508596.1_Missense_Mutation_p.V522L|WDR17_ENST00000280190.4_Missense_Mutation_p.V546L|WDR17_ENST00000507824.2_Missense_Mutation_p.V529L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	546										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)		AGACACAAATGTTCGTGTTTA	0.343000													13	36					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109501	64109501	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:64109501C>T	ENST00000356786.5	+	8	755	c.711C>T	c.(709-711)ctC>ctT	p.L237L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	237					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGAACCCCTCTGCTTGAGGC	0.652000													4	40					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67163752	67163752	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:67163752C>G	ENST00000307980.2	+	9	846	c.753C>G	c.(751-753)atC>atG	p.I251M	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	251					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTTCACCATCAAGGACTCTT	0.637000								Other conserved DNA damage response genes					24	289					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35641860	35641860	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:35641860G>C	ENST00000353139.5	-	4	831	c.350C>G	c.(349-351)tCt>tGt	p.S117C	ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000394406.2_Missense_Mutation_p.S80C|ACACA_ENST00000360679.3_Missense_Mutation_p.S22C|ACACA_ENST00000335166.5_Missense_Mutation_p.S2C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	80	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)	GTGCAAGCCAGACATGCTGGA	0.423000													12	74					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10535035	10535035	+	Silent	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:10535035G>C	ENST00000356607.4	+	1	92	c.12G>C	c.(10-12)tcG>tcC	p.S4S	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	4					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGTCCTCGGAGCAGGCAG	0.692000													6	15					0	0	1	0	0
NDP	4693	broad.mit.edu	37	X	43809195	43809195	+	Silent	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:43809195G>C	ENST00000378062.5	-	3	659	c.252C>G	c.(250-252)gtC>gtG	p.V84V	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	84	CTCK.				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						GTTGCTTGAGGACAGTGCTGA	0.627000											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14568886	14568886	+	Silent	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:14568886G>T	ENST00000242783.6	+	8	1374	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G	PKN1_ENST00000342216.4_Silent_p.G409G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	403	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						CAGTGGTGGGGCAGACGTCTT	0.572000													53	234					8.28887e-21	9.2223e-21	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151808895	151808895	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:151808895G>C	ENST00000370306.2	+	2	226	c.206G>C	c.(205-207)aGa>aCa	p.R69T		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	69						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)					GTGCTGTCAAGATACGATGTC	0.473000													11	145					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70263192	70263192	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:70263192C>A	ENST00000346329.3	+	8	839	c.531C>A	c.(529-531)gaC>gaA	p.D177E	CTTN_ENST00000376561.3_Missense_Mutation_p.D177E|CTTN_ENST00000301843.8_Missense_Mutation_p.D177E	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	177						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGGCTTCGACTACCAGGGCA	0.587000													15	148					2.23348e-06	2.35757e-06	1	1	0
CPNE8	144402	broad.mit.edu	37	12	39268294	39268294	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:39268294T>C	ENST00000331366.5	-	2	214	c.118A>G	c.(118-120)Aca>Gca	p.T40A	CPNE8_ENST00000360449.3_Missense_Mutation_p.T28A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	40	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTAGAAAATGTGTCTCTGTCA	0.264000													9	31					0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3037154	3037154	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:3037154C>T	ENST00000398052.4	+	13	1654	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	GRK4_ENST00000398051.4_Silent_p.G405G|GRK4_ENST00000504933.1_Silent_p.G437G|GRK4_ENST00000345167.6_Silent_p.G405G|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	437	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCAGGGGCGAGGGAGCGG	0.537000													18	69					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30791922	30791922	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:30791922C>G	ENST00000383096.3	-	20	2358	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	CCDC178_ENST00000300227.8_Missense_Mutation_p.E688Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E726Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.E726Q					coiled-coil domain containing 178																		TGATCTTCCTCAAAGATTCTC	0.328000													4	30					0	0	1	0	0
DUSP18	150290	broad.mit.edu	37	22	31059456	31059456	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:31059456C>G	ENST00000334679.3	-	2	1040	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.E179Q|DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000404885.1_Missense_Mutation_p.E179Q	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	179						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTTCCTTCTCATAGATGTCA	0.488000													14	51					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98392731	98392731	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:98392731C>T	ENST00000371109.3	-	1	267	c.86G>A	c.(85-87)gGa>gAa	p.G29E	PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000339364.5_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	0						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		agctggtcttcctttgagcca	0.493000													8	54					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398448	126398448	+	Silent	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:126398448G>T	ENST00000394329.3	+	13	12445	c.12432G>T	c.(12430-12432)ctG>ctT	p.L4144L	FAT4_ENST00000335110.5_Silent_p.L2407L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4144	Laminin G-like 1.				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						GAAGGCCTCTGGAACCCAGCC	0.408000													18	115					5.3912e-06	5.64249e-06	1	1	0
ZNF662	389114	broad.mit.edu	37	3	42956616	42956616	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:42956616C>A	ENST00000541208.1	+	5	1420	c.1051C>A	c.(1051-1053)Cag>Aag	p.Q351K	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.Q351K|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.Q377K			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	351					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)		TTCTCAGCACCAGAGGGTCCA	0.483000													4	57					0.00909568	0.0092454	1	1	0
FAAH2	158584	broad.mit.edu	37	X	57367792	57367792	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:57367792C>G	ENST00000374900.4	+	5	831	c.711C>G	c.(709-711)ttC>ttG	p.F237L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	237						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CTGCTTTCTTCAATGGTATAT	0.423000										HNSCC(52;0.14)			25	179					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326137	68326137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:68326137C>T	ENST00000393799.2	+	8	1102	c.835C>T	c.(835-837)Cga>Tga	p.R279*	PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000534534.1_Intron			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	279					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGAGACACGACGACCAAC	0.348000													11	90					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9496196	9496196	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:9496196C>G	ENST00000281419.3	+	13	1472	c.1132C>G	c.(1132-1134)Caa>Gaa	p.Q378E	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q378E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	378	PH.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTACCACTTTCAAGCTGAAGA	0.413000													9	86					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131231550	131231550	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:131231550A>G	ENST00000303890.5	+	7	851	c.266A>G	c.(265-267)gAt>gGt	p.D89G	ODF2_ENST00000444119.2_Missense_Mutation_p.D89G|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000351030.3_Missense_Mutation_p.D108G|ODF2_ENST00000372814.3_Missense_Mutation_p.D157G|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372807.5_Missense_Mutation_p.D108G|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000434106.2_Missense_Mutation_p.D113G|ODF2_ENST00000546203.1_Missense_Mutation_p.D94G|ODF2_ENST00000372796.4_Missense_Mutation_p.D113G|ODF2_ENST00000393533.2_Missense_Mutation_p.D113G|ODF2_ENST00000372791.3_Missense_Mutation_p.D94G	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	113					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						ACAGAAGATGATGACTCAGGT	0.468000													11	99					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159996983	159996983	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:159996983T>G	ENST00000326448.7	-	16	2266	c.1834A>C	c.(1834-1836)Aag>Cag	p.K612Q	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.K783Q|IFT80_ENST00000483465.1_Missense_Mutation_p.K475Q|IFT80_ENST00000496589.1_Missense_Mutation_p.K475Q	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	612						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)			TAAATTACCTTAACAAAGCGA	0.338000													5	43					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53992565	53992565	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:53992565C>T	ENST00000263634.3	-	2	279	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E87K|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.E84K	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		84					intracellular signal transduction												TAAGCTGCTTCATGAATTGGC	0.408000													18	130					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008621	184008621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:184008621G>T	ENST00000402825.3	+	16	2161	c.2161G>T	c.(2161-2163)Gag>Tag	p.E721*	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Nonsense_Mutation_p.E603*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.E574*|ECE2_ENST00000357474.5_Nonsense_Mutation_p.E649*	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	721	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATGGGCCATGAGTTGACGCA	0.577000													11	151					1.5842e-08	1.68663e-08	1	1	0
CDK10	8558	broad.mit.edu	37	16	89755672	89755672	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:89755672C>T	ENST00000353379.7	+	2	143	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_3'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	34					negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGACGATGCCGGAGTGTGAA	0.527000													13	64					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44050066	44050066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:44050066C>A	ENST00000262887.5	-	14	2072	c.1525G>T	c.(1525-1527)Gag>Tag	p.E509*	XRCC1_ENST00000543982.1_Nonsense_Mutation_p.E478*			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	509					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCCCATTCTCCTCCTGGCCA	0.617000								Other BER factors					6	50					0.00116845	0.00119754	1	1	0
LRP1	4035	broad.mit.edu	37	12	57553626	57553626	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57553626G>T	ENST00000243077.3	+	12	2283	c.1817G>T	c.(1816-1818)gGt>gTt	p.G606V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	606					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AATGTGGAGGGTGTGGCCGTG	0.582000													25	84					3.65163e-15	4.00868e-15	1	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95614203	95614203	+	Silent	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:95614203G>T	ENST00000324972.6	+	8	901	c.708G>T	c.(706-708)cgG>cgT	p.R236R	DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000447467.2_Silent_p.R219R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTTTGACCGGACAATACGGG	0.403000													21	114					7.41877e-09	7.96712e-09	1	1	0
ENOX2	10495	broad.mit.edu	37	X	129771375	129771375	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:129771375G>C	ENST00000338144.3	-	12	1643	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*	ENOX2_ENST00000370927.1_Nonsense_Mutation_p.S409*|ENOX2_ENST00000370935.1_Nonsense_Mutation_p.S380*|ENOX2_ENST00000394363.1_Nonsense_Mutation_p.S380*	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	409					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCTGCCTGTGATACTAAGGC	0.408000													13	72					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95305516	95305516	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:95305516C>T	ENST00000271227.6	+	7	785	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC44A3_ENST00000529450.1_Missense_Mutation_p.A196V|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A180V|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A148V|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A192V|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A160V|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	228						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTGTCTTTGGCCATGATGTTT	0.388000													12	82					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428530	428530	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:428530G>T	ENST00000332826.6	-	13	1214	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	377						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						CACCACCACGGCCGTGGTCAC	0.677000													7	100					0.00198382	0.00202481	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47426585	47426585	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:47426585A>G	ENST00000426342.1	-	9	1933	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P	MDGA2_ENST00000357362.3_Missense_Mutation_p.L396P|MDGA2_ENST00000439988.2_Missense_Mutation_p.L625P|MDGA2_ENST00000399232.2_Missense_Mutation_p.L694P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	625	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACCTGTAACAAGAAAGCTGCA	0.343000													3	38					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58258922	58258922	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:58258922C>T	ENST00000300896.4	-	32	4505	c.4311G>A	c.(4309-4311)caG>caA	p.Q1437Q	USP32_ENST00000592339.1_Silent_p.Q1107Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1437					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCTCACATATCTGCCCAGCCC	0.547000													13	61					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726909	63726909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:63726909G>T	ENST00000421025.1	+	5	1167	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E300*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	300					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						CACATGTGAAGAATGTGGCAA	0.443000													24	26					2.32416e-17	2.57429e-17	1	1	0
CDH11	1009	broad.mit.edu	37	16	65016096	65016096	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:65016096C>T	ENST00000394156.3	-	8	1561	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	CDH11_ENST00000268603.4_Missense_Mutation_p.V370I|CDH11_ENST00000566827.1_Missense_Mutation_p.V244I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	370	Cadherin 3.				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)		GAGATCTTGACGGTCACAGTG	0.498000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			15	95					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824339	13824339	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:13824339C>T	ENST00000265104.4	-	39	6652	c.6548G>A	c.(6547-6549)cGt>cAt	p.R2183H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2183					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2183L(1)		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)					CCGTAGTACACGCATGACAAT	0.448000									Kartagener syndrome				13	60					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111020092	111020092	+	Missense_Mutation	SNP	G	G	A	rs138566611		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:111020092G>A	ENST00000262839.2	-	11	3289	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATTTGGCCCGAGCCCCACCA	0.488000													31	253					0	0	1	0	0
FAM181B	220382	broad.mit.edu	37	11	82444685	82444685	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:82444685G>A	ENST00000329203.3	-	1	221	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	29										large_intestine(1)|lung(2)|prostate(1)	4						CCAGGGCTCCGAAGGCGCCCC	0.736000													6	17					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31830292	31830292	+	Splice_Site	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:31830292G>C	ENST00000354297.4	+	8	801		c.e8-1		BPIFA1_ENST00000375422.2_Splice_Site|BPIFA1_ENST00000375413.4_Splice_Site	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1						innate immune response	extracellular region	lipid binding										TGTTTGTTTAGACATGCTGAT	0.512000													4	46					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100358105	100358105	+	Silent	SNP	T	T	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:100358105T>G	ENST00000294724.4	+	24	3679	c.3201T>G	c.(3199-3201)ccT>ccG	p.P1067P	AGL_ENST00000361915.3_Silent_p.P1067P|AGL_ENST00000361302.3_Silent_p.P1051P|AGL_ENST00000361522.4_Silent_p.P1050P|AGL_ENST00000370165.3_Silent_p.P1067P|AGL_ENST00000370163.3_Silent_p.P1067P|AGL_ENST00000370161.2_Silent_p.P1051P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1067			P -> S (in dbSNP:rs3753494).		glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGATGTACCTTATAGGTTAA	0.383000													6	28					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392364	60392364	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:60392364G>C	ENST00000371204.3	-	1	98	c.55C>G	c.(55-57)Cgg>Ggg	p.R19G		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	19					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AGGAGAGTCCGAGGATGGACC	0.657000													6	49					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81712170	81712170	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:81712170G>C	ENST00000537098.3	+	10	1397	c.1325G>C	c.(1324-1326)aGc>aCc	p.S442T	CMIP_ENST00000539778.2_Missense_Mutation_p.S348T|CMIP_ENST00000398040.4_Missense_Mutation_p.S289T|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	408						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AGCACCATGAGCATCGAGCTG	0.711000													4	21					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864034	6864034	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:6864034C>G	ENST00000307659.5	+	7	2380	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S642C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	642							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AATGAAGGATCTGGTATAAAC	0.378000													3	28					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37282705	37282705	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:37282705C>G	ENST00000373091.3	-	13	2063	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	GRIK3_ENST00000373093.4_Missense_Mutation_p.E683Q	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	683					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)	GCCCCATACTCGATTTTGGTT	0.562000													5	40					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32212681	32212681	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:32212681C>G	ENST00000346541.3	+	7	1368	c.831C>G	c.(829-831)ctC>ctG	p.L277L	CBFA2T2_ENST00000397800.1_Silent_p.L248L|CBFA2T2_ENST00000375279.2_Silent_p.L277L|CBFA2T2_ENST00000342704.5_Silent_p.L268L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Silent_p.L287L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	277						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CTGTGCCCCTCATGAATCCCG	0.517000													36	67					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:152325523G>C	ENST00000388718.5	-	3	4811	c.4739C>G	c.(4738-4740)aCt>aGt	p.T1580S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507000													5	252					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669771	49669771	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:49669771G>A	ENST00000561648.1	-	4	3345	c.3292C>T	c.(3292-3294)Cgc>Tgc	p.R1098C	ZNF423_ENST00000535559.1_Missense_Mutation_p.R981C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1098C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1038C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R981C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1098					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGCGCTGCGGGCCATGCAG	0.692000													5	48					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339064	16339064	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr21:16339064G>C	ENST00000400202.1	-	3	2162	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E	NRIP1_ENST00000318948.4_Missense_Mutation_p.Q484E|NRIP1_ENST00000400199.1_Missense_Mutation_p.Q484E			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	484	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GAGGTATCTTGATCTTCTTTG	0.363000													6	64					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98633879	98633879	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:98633879C>G	ENST00000295268.3	-	10	1380	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GGAGTAATCTCTTTGGACTCT	0.383000													6	40					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318210	48318210	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:48318210A>T	ENST00000435803.1	+	18	7443	c.7419A>T	c.(7417-7419)gaA>gaT	p.E2473D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2473					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						CAACATTAGAAATTACTAAGA	0.373000													20	82					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50686430	50686430	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:50686430C>G	ENST00000355832.5	-	11	2334	c.2256G>C	c.(2254-2256)atG>atC	p.M752I	ERCC6_ENST00000542458.1_Missense_Mutation_p.M122I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	752					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGAAAGGCTCATCTTGACAT	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)					19	149					0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76183295	76183295	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:76183295C>T	ENST00000267938.4	+	11	1351	c.969C>T	c.(967-969)atC>atT	p.I323I	UBE2Q2_ENST00000569423.1_Silent_p.I288I|UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000561851.1_Silent_p.I307I	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	323					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AATCGGTCATCATGCAAATAA	0.388000													9	57					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910357	29910357	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:29910357C>G	ENST00000396634.1	+	3	368	c.27C>G	c.(25-27)ctC>ctG	p.L9L	HLA-A_ENST00000376802.2_Silent_p.L9L|HLA-A_ENST00000376809.5_Silent_p.L9L|HLA-A_ENST00000376806.5_Silent_p.L9L			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	9					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCCGAACCCTCCTCCTGCTAC	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			19	99					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17999159	17999159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:17999159C>T	ENST00000222248.3	+	13	1893	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	516					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACGCCAGCCGACCCGCCTT	0.577000													26	160					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80041239	80041239	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:80041239C>T	ENST00000306749.2	-	32	5622	c.5404G>A	c.(5404-5406)Gag>Aag	p.E1802K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1802	Enoyl reductase (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)	GCACTGCTCTCGTTGAAGAAC	0.642000													8	60					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10500162	10500162	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:10500162C>T	ENST00000396554.3	+	3	679	c.338C>T	c.(337-339)cCg>cTg	p.P113L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	104					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCAGCCAGTCCGGCCATGTCT	0.592000													34	324					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41209136	41209136	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41209136C>G	ENST00000309486.4	-	18	5349	c.4322G>C	c.(4321-4323)aGa>aCa	p.R1441T	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1737T|BRCA1_ENST00000352993.3_Missense_Mutation_p.R595T|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1472T|BRCA1_ENST00000591534.1_Missense_Mutation_p.R228T|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1690T|BRCA1_ENST00000468300.1_Missense_Mutation_p.R633T|BRCA1_ENST00000351666.3_Missense_Mutation_p.R554T|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1498T|BRCA1_ENST00000491747.2_Missense_Mutation_p.R633T|BRCA1_ENST00000586385.1_Missense_Mutation_p.R47T|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1758T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1737					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)		CACATCTCCTCTGACTTCAAA	0.433000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			18	123					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111749847	111749847	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:111749847G>C	ENST00000524880.1	-	1	302	c.10C>G	c.(10-12)Cgg>Ggg	p.R4G	C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.R4G			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGAGGCGCCGAGGGGCCATG	0.637000											OREG0010943|OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	4	60					0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35778161	35778161	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:35778161G>A	ENST00000261479.4	+	3	333	c.213G>A	c.(211-213)aaG>aaA	p.K71K	PSMA6_ENST00000540871.1_Silent_p.K52K|PSMA6_ENST00000556506.1_Silent_p.K71K|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Silent_p.K71K|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	71					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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		ACTTATTCAAGATAACTGAAA	0.299000													6	86					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161710	29161710	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:29161710A>C	ENST00000321990.4	+	2	989	c.611A>C	c.(610-612)aAg>aCg	p.K204T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	204					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GACTTCAAAAAGTTGAGAAAA	0.323000													5	100					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75929421	75929421	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:75929421C>T	ENST00000321027.3	-	3	656	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.E175K|GCFC2_ENST00000470503.1_Missense_Mutation_p.E175K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	175					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										GGGTCATCTTCGCTCTCTCTC	0.453000													24	67					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108714761	108714761	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:108714761C>T	ENST00000361189.2	-	4	666	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PJA2_ENST00000361557.3_Missense_Mutation_p.E143K	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	143					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TACTCTCCCTCAGAGTGATTA	0.428000													12	53					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100964680	100964680	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:100964680C>T	ENST00000193391.7	-	12	1696	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	503					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGTCCTTTCCTCAGAAGCCA	0.473000													5	190					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593777	16593777	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:16593777C>T	ENST00000443444.2	+	1	203	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667000													8	31					0	0	1	0	0
SOST	50964	broad.mit.edu	37	17	41832885	41832885	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41832885G>A	ENST00000301691.2	-	2	513	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	156	CTCK.				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CACCTTGCGCGCGCGCGGCGC	0.711000													9	49					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31256665	31256665	+	Splice_Site	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:31256665G>A	ENST00000407793.2	+	26	2937	c.2686_splice	c.e26+1	p.V896_splice	DDX11_ENST00000545668.1_Splice_Site_p.V896_splice|DDX11_ENST00000542838.1_Splice_Site_p.K897_splice|DDX11_ENST00000228264.6_Splice_Site_p.K871_splice|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Splice_Site_p.K847_splice	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	896					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGTGCAGAAGGTCAGTCCTA	0.597000										Multiple Myeloma(12;0.14)			39	108					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16887242	16887242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:16887242G>A	ENST00000380087.2	-	2	478	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	RBBP7_ENST00000404022.1_Nonsense_Mutation_p.Q40*|RBBP7_ENST00000380084.4_Nonsense_Mutation_p.Q84*			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	40					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CTGGGCCACTGAAGAGCATGG	0.398000													15	87					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79752906	79752906	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:79752906G>C	ENST00000338008.5	+	13	4118	c.3938G>C	c.(3937-3939)aGa>aCa	p.R1313T	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.R1313T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.R1313T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1313					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GGCCATCCTAGAAAAGGTGAG	0.368000													4	46					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82752438	82752438	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:82752438T>A	ENST00000248306.3	+	1	163	c.94T>A	c.(94-96)Tcc>Acc	p.S32T	CCDC59_ENST00000548126.1_Intron|METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		GGATGCCCTGTCCATTTCCAA	0.612000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	97					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10557019	10557019	+	Missense_Mutation	SNP	C	C	G	rs55910733		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:10557019C>G	ENST00000316170.3	+	1	780	c.363C>G	c.(361-363)atC>atG	p.I121M	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	123						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CCCAAAATATCTACTGTGTTC	0.418000													14	83					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14748918	14748918	+	Splice_Site	SNP	G	G	T	rs149254238		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:14748918G>T	ENST00000253673.5	-	11	1583	c.1484_splice	c.e11+1	p.R495_splice	EMR3_ENST00000443157.2_Splice_Site_p.R369_splice|EMR3_ENST00000599900.1_Splice_Site_p.R280_splice|EMR3_ENST00000344373.4_Splice_Site_p.R443_splice	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	495					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R495*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAAGCTCACCGATCAGCAGTT	0.498000													7	109					5.18039e-06	5.44492e-06	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117278774	117278774	+	Splice_Site	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:117278774T>A	ENST00000355044.3	+	25	3782	c.3654_splice	c.e25-1	p.I1219_splice	ATRNL1_ENST00000423111.2_Splice_Site_p.I270_splice|ATRNL1_ENST00000303745.7_Splice_Site_p.I12_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1219						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTTTTCAGATTGCATTCTCA	0.313000													7	9					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57358464	57358464	+	Missense_Mutation	SNP	C	C	T	rs10711116		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:57358464C>T	ENST00000314922.3	-	1	125	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PENK_ENST00000523051.1_Missense_Mutation_p.G17R|PENK_ENST00000451791.2_Missense_Mutation_p.G17R|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000518770.1_Missense_Mutation_p.G17R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	17					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCAGGAGCCCGGGGCCGAGC	0.667000													20	66					0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21384911	21384911	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:21384911G>A	ENST00000380206.2	-	1	485	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	140					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|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			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTCACAGCCAGAATGGAGTCC	0.488000													26	176					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51561606	51561606	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:51561606G>A	ENST00000298355.3	-	1	1173	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	TRIM9_ENST00000338969.5_Missense_Mutation_p.R18W|TRIM9_ENST00000360392.4_Missense_Mutation_p.R18W	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	18					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)					ATGGGCTCCCGATAGAAGGAG	0.627000													4	31					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347000	140347000	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140347000C>T	ENST00000289269.5	+	1	1181	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		217	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCTAGACCGGGAGCAGGC	0.627000													7	55					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22337506	22337506	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:22337506C>G	ENST00000299853.5	+	18	1940	c.1773C>G	c.(1771-1773)agC>agG	p.S591R	POLR3E_ENST00000418581.2_Missense_Mutation_p.S555R|POLR3E_ENST00000564209.1_Missense_Mutation_p.S591R|POLR3E_ENST00000359210.4_Missense_Mutation_p.S591R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	591					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACTTGGCCAGCCTGCCCCCCG	0.602000													7	38					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999616	160999616	+	Silent	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:160999616C>A	ENST00000447678.1	-	28	4530	c.4410G>T	c.(4408-4410)tcG>tcT	p.S1470S	LPA_ENST00000316300.5_Silent_p.S1470S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3978	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)	TGAGGACACTCGATTCTGTCA	0.507000													22	105					1.66031e-10	1.79866e-10	1	1	0
TLR8	51311	broad.mit.edu	37	X	12938750	12938750	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:12938750C>T	ENST00000218032.6	+	2	1678	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	TLR8_ENST00000311912.5_Missense_Mutation_p.H549Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	531					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGCCATTCCTCATGTCAAATA	0.363000													6	43					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221559	55221559	+	RNA	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:55221559G>T	ENST00000413439.1	+	0	1339																											ACGGGGGCCAGTACAGATGCT	0.672000													4	79					3.59834e-05	3.71878e-05	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21015380	21015380	+	Silent	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:21015380C>A	ENST00000381545.3	+	7	735	c.516C>A	c.(514-516)atC>atA	p.I172I	LST3_ENST00000540229.1_Silent_p.I172I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.I172I|SLCO1B3_ENST00000261196.2_Silent_p.I172I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	172					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACATGTGGATCTATGTCTTCA	0.358000													11	73					0.0167234	0.0168599	1	1	0
SOHLH2	54937	broad.mit.edu	37	13	36776120	36776120	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:36776120C>T	ENST00000379881.3	-	2	247	c.159G>A	c.(157-159)acG>acA	p.T53T	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.T130T|SOHLH2_ENST00000317764.6_Silent_p.T53T|SOHLH2_ENST00000554962.1_Silent_p.T130T	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTGCCTCCTTCGTGTCACTGA	0.453000													10	79					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88247959	88247959	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:88247959G>C	ENST00000357081.3	-	14	1777	c.1633C>G	c.(1633-1635)Caa>Gaa	p.Q545E	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.Q383E|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Q557E|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Q505E			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	545					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGGGCTGTTTGAGAAGGAATA	0.423000													6	44					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96418829	96418829	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:96418829G>A	ENST00000359246.4	+	9	1466	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	367					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCCCAACTTTGAAACTGCGTG	0.552000													19	146					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63525171	63525171	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:63525171T>A	ENST00000536984.2	+	8	2049	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	CDH7_ENST00000323011.3_Missense_Mutation_p.V452D|CDH7_ENST00000397968.2_Missense_Mutation_p.V452D			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATATCACAGTCCTTGCAATG	0.408000													11	42					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60789691	60789691	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:60789691G>C	ENST00000335670.6	-	11	1635	c.1535C>G	c.(1534-1536)aCt>aGt	p.T512S	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.T457S|RORA_ENST00000261523.5_Missense_Mutation_p.T545S|RORA_ENST00000309157.4_Missense_Mutation_p.T537S	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	545	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AAATTCTGAAGTGAACAACTC	0.358000													3	37					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8131624	8131624	+	Silent	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:8131624T>C	ENST00000315684.8	-	23	3535	c.3528A>G	c.(3526-3528)ctA>ctG	p.L1176L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1176					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGAATCGCTGTAGCCGAGGAG	0.532000													32	59					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119020845	119020845	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:119020845C>G	ENST00000307417.3	+	2	534	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ABCG4_ENST00000531739.1_Nonsense_Mutation_p.S57*|ABCG4_ENST00000449422.2_Nonsense_Mutation_p.S57*	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	57					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAAGCGCTCAGCCGTGGAC	0.642000													11	128					0	0	1	0	0
NPVF	64111	broad.mit.edu	37	7	25267994	25267994	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:25267994G>C	ENST00000222674.2	-	1	111	c.65C>G	c.(64-66)tCa>tGa	p.S22*		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	22					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AAAAATGTTTGATGTTAACAA	0.289000													6	28					0	0	1	0	0
WASH4P	374677	broad.mit.edu	37	16	67035	67035	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:67035A>G	ENST00000326592.9	-	5	1259	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L																								GGGTCCAGGAAGACATACTTC	0.567000													4	28					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544334	82544334	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:82544334G>A	ENST00000423517.2	-	7	13305	c.12968C>T	c.(12967-12969)gCt>gTt	p.A4323V	PCLO_ENST00000333891.8_Missense_Mutation_p.A4323V|PCLO_ENST00000437081.1_Missense_Mutation_p.A1043V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4254					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						AACATCTAGAGCTTCAGCCTC	0.443000													8	30					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72400775	72400775	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:72400775A>C	ENST00000357731.4	-	2	635	c.396T>G	c.(394-396)caT>caG	p.H132Q	NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	132	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCACAGTTAGATGCACCTGCA	0.393000													4	19					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32777928	32777928	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:32777928G>A	ENST00000427716.2	+	13	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	FGD4_ENST00000546442.1_Missense_Mutation_p.D428N|FGD4_ENST00000534526.2_Missense_Mutation_p.D658N|FGD4_ENST00000531134.1_Missense_Mutation_p.D606N|FGD4_ENST00000525053.1_Missense_Mutation_p.D633N|FGD4_ENST00000266482.3_Missense_Mutation_p.D273N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	521	PH 1.				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)					AGAAACCATCGATGCTTTTCA	0.308000													11	89					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153524217	153524217	+	Missense_Mutation	SNP	C	C	T	rs141543964		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:153524217C>T	ENST00000369915.3	+	1	194	c.5C>T	c.(4-6)gCg>gTg	p.A2V	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	2					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACTAATGGCGGATGCTGAG	0.597000													46	91					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44951326	44951326	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:44951326C>T	ENST00000261866.7	-	3	634	c.618G>A	c.(616-618)acG>acA	p.T206T	SPG11_ENST00000558319.1_Silent_p.T206T|SPG11_ENST00000535302.2_Silent_p.T206T|SPG11_ENST00000427534.2_Silent_p.T206T|SPG11_ENST00000559193.1_Silent_p.T206T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	206					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGCAGAGCTGCGTGTCAATAA	0.418000													19	98					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216371768	216371768	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:216371768T>C	ENST00000366943.2	-	18	4356	c.3970A>G	c.(3970-3972)Aca>Gca	p.T1324A	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1324A|USH2A_ENST00000366942.3_Missense_Mutation_p.T1324A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1324	Fibronectin type-III 3.				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)		GTGATGGTTGTCATTGTTTGA	0.443000										HNSCC(13;0.011)			9	70					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612782	20612782	+	Silent	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:20612782T>A	ENST00000333629.1	+	1	888	c.888T>A	c.(886-888)gcT>gcA	p.A296A		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AGGTGAAAGCTTCCATGAGGA	0.393000													8	86					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640716	32640716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:32640716C>A	ENST00000421745.2	+	10	2491	c.2357C>A	c.(2356-2358)tCa>tAa	p.S786*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	786					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.S786*(1)|p.S758*(1)		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)					GAGCTGGAATCAAATCTTGCT	0.368000													12	54					1.5842e-08	1.68663e-08	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327663	88327663	+	Missense_Mutation	SNP	C	C	A	rs141503904		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:88327663C>A	ENST00000325089.6	+	2	239	c.20C>A	c.(19-21)cCa>cAa	p.P7Q	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	7						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)					TGCTGCCCCCCAGTAACTTTG	0.438000													10	84					1.58986e-06	1.68539e-06	1	1	0
DAPK2	23604	broad.mit.edu	37	15	64231510	64231510	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:64231510C>T	ENST00000261891.3	-	4	509	c.504G>A	c.(502-504)aaG>aaA	p.K168K	DAPK2_ENST00000457488.1_Silent_p.K168K|DAPK2_ENST00000558069.1_Silent_p.K168K|DAPK2_ENST00000558482.1_5'UTR			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	168	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGTCAATCAGCTTGATGTGTG	0.358000													12	45					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731813	92731813	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:92731813C>G	ENST00000379958.2	-	3	3867	c.3598G>C	c.(3598-3600)Gag>Cag	p.E1200Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338000													23	94					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122422803	122422816	+	Frame_Shift_Del	DEL	ATGGTAGCACATCT	ATGGTAGCACATCT	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:122422803_122422816delATGGTAGCACATCT	ENST00000474629.2	+	7	3562_3575	c.3296_3309delATGGTAGCACATCT	c.(3295-3309)afs	p.NGSTS1099fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1099	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAGTGGAGAAATGGTAGCACATCTTCACTCAAGG	0.500													15	121	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178952146	178952147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:178952146_178952147insA	ENST00000263967.3	+	21	3358_3359	c.3201_3202insA	c.(3199-3204)ttactgfs	p.L1068fs		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1068	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCATGCATTGAACTGAAAAGA	0.396		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	55	---	---	---	---					
PCDHGB1	56104	broad.mit.edu	37	5	140730249	140730250	+	Frame_Shift_Ins	INS	-	-	GTCAG			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140730249_140730250insGTCAG	ENST00000523390.1	+	1	422_423	c.422_423insGTCAG	c.(421-423)gtcfs	p.V141fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTTGTGAGTCAGCCTTAC	0.406													8	140	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													11	55	---	---	---	---					
AC005077.5	0	broad.mit.edu	37	7	75804673	75804673	+	RNA	DEL	A	A	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:75804673delA	ENST00000437494.1	+	0	57																											atctcgaaccaaaaaaaaaag	0.542													2	4	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	144993251	144993262	+	In_Frame_Del	DEL	GGCTGCCGCCGC	GGCTGCCGCCGC	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:144993251_144993262delGGCTGCCGCCGC	ENST00000322810.4	-	32	11307_11318	c.11138_11149delGCGGCGGCAGCC	c.(11137-11151)gac>g	p.GGGSH3713del	PLEC_ENST00000357649.2_In_Frame_Del_p.GGGSH3580del|PLEC_ENST00000345136.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000354589.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000527096.1_In_Frame_Del_p.GGGSH3599del|PLEC_ENST00000354958.2_In_Frame_Del_p.GGGSH3554del|PLEC_ENST00000398774.2_In_Frame_Del_p.GGGSH3544del|PLEC_ENST00000436759.2_In_Frame_Del_p.GGGSH3603del|PLEC_ENST00000356346.3_In_Frame_Del_p.GGGSH3562del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3713	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.G3715G(1)|p.G3605G(1)|p.G3578G(1)		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						GAGCCGCCGTGGCTGCCGCCGCCGGGAATGTC	0.642													30	225	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)cccfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													7	93	---	---	---	---					
FADS3	3995	broad.mit.edu	37	11	61658681	61658681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:61658681delC	ENST00000540820.1	-	1	245	c.173delG	c.(172-174)gcfs	p.G58fs	FADS3_ENST00000525588.1_Frame_Shift_Del_p.G58fs|FADS3_ENST00000527697.1_Intron|FADS3_ENST00000278829.2_Frame_Shift_Del_p.G58fs|FADS3_ENST00000529525.1_5'UTR			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	58	Cytochrome b5 heme-binding.				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						GAGGCGGCTGCCCCCTGGGTG	0.706													2	4	---	---	---	---					
TTC9C	283237	broad.mit.edu	37	11	62496334	62496350	+	Frame_Shift_Del	DEL	TGCAGGAGGCTCAGCTG	TGCAGGAGGCTCAGCTG	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62496334_62496350delTGCAGGAGGCTCAGCTG	ENST00000513247.2	+	2	665_681	c.413_429delTGCAGGAGGCTCAGCTG	c.(412-429)cfs	p.LQEAQL138fs	TTC9C_ENST00000532583.1_Frame_Shift_Del_p.LQEAQL5fs|TTC9C_ENST00000316461.4_Frame_Shift_Del_p.LQEAQL5fs			Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	5							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GAGAAGCGTCTGCAGGAGGCTCAGCTGTACAAGGAGG	0.562													9	70	---	---	---	---					
LOC101929457	101929457	broad.mit.edu	37	15	77820915	77820915	+	RNA	DEL	G	G	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:77820915delG	ENST00000561283.2	+	0	806																											GTGGCCTGGTGGGTGGCCCCA	0.582													2	4	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	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)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													4	3	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TT	rs139112308	by1000genomes	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:32077916_32077917insTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													2	4	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11502116	11502117	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:11502116_11502117insT	ENST00000262442.3	+	1	369_370	c.301_302insT	c.(301-303)tttfs	p.F101fs	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.F101fs|DNAH9_ENST00000579828.1_Frame_Shift_Ins_p.F101fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	101	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTAAGGCGCTTTTTTTCCTT	0.743													2	4	---	---	---	---					
AMZ2P1	201283	broad.mit.edu	37	17	62969193	62969193	+	RNA	DEL	A	A	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:62969193delA	ENST00000430983.1	-	0	1290					NR_026903.1																						GATATGAATTAAAAAAAAATG	0.328													2	4	---	---	---	---					
ZNF17	7565	broad.mit.edu	37	19	57932040	57932043	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:57932040_57932043delTTCT	ENST00000307658.7	+	4	1449_1452	c.1186_1189delTTCT	c.(1186-1191)ttfs	p.FF396fs	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Frame_Shift_Del_p.FF394fs			P17021	ZNF17_HUMAN	zinc finger protein 17	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ATGTGGGAAATTCTTTAGATACCG	0.402													11	86	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	270	---	---	---	---					
