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
CELA3B	23436	broad.mit.edu	37	1	22313121	22313121	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:22313121G>A	uc001bfk.3	+	6	855	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	247	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCAACACCCGCAGGAAGCCC	0.622												
ZNF683	257101	broad.mit.edu	37	1	26691223	26691223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:26691223G>A	uc001bmg.1	-	3	932	c.814C>T	c.(814-816)Cga>Tga	p.R272*	ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCTGGATTTCGGGCCTGGGAA	0.652												
SPTA1	6708	broad.mit.edu	37	1	158614117	158614117	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:158614117C>T	uc001fst.1	-	29	4463	c.4264G>A	c.(4264-4266)Gac>Aac	p.D1422N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1422					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)					GAACTTTTGTCATCTGACCTC	0.443												
CNTN2	6900	broad.mit.edu	37	1	205033757	205033758	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:205033757_205033758delTG	uc001hbr.3	+	11	1667_1668	c.1398_1399delTG	c.(1396-1401)actgtafs	p.T466fs	CNTN2_uc001hbq.1_Frame_Shift_Del_p.T357fs|CNTN2_uc001hbs.3_Frame_Shift_Del_p.T254fs	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	466	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGAGTGACTGTAACTCCAGA	0.525												
OBSCN	84033	broad.mit.edu	37	1	228468436	228468436	+	Silent	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:228468436C>T	uc009xez.1	+	29	8180	c.8136C>T	c.(8134-8136)gaC>gaT	p.D2712D	OBSCN_uc001hsn.3_Silent_p.D2712D|OBSCN_uc001hsp.1_Silent_p.D411D|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2712	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCTGAAGACGCCGGCCTGT	0.692												
JMJD1C	221037	broad.mit.edu	37	10	64954062	64954062	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:64954062T>A	uc001jmn.3	-	13	6018	c.5718A>T	c.(5716-5718)caA>caT	p.Q1906H	JMJD1C_uc001jml.3_Missense_Mutation_p.Q1687H|JMJD1C_uc001jmm.3_Missense_Mutation_p.Q1618H|JMJD1C_uc010qiq.2_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpi.3_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q804H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1906					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGGTATAATTTGGGTTGGCA	0.333												
PDCD11	22984	broad.mit.edu	37	10	105204397	105204397	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:105204397A>G	uc001kwy.1	+	34	5489	c.5402A>G	c.(5401-5403)tAt>tGt	p.Y1801C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1801					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTCGGTCTATATCGACATG	0.597												
CHID1	66005	broad.mit.edu	37	11	902312	902312	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:902312C>T	uc010qwu.1	-	3	483	c.370G>A	c.(370-372)Gat>Aat	p.D124N	CHID1_uc010qwv.2_Missense_Mutation_p.D155N|CHID1_uc001lsn.3_Missense_Mutation_p.D119N|CHID1_uc001lso.3_Missense_Mutation_p.D94N|CHID1_uc001lsm.3_Missense_Mutation_p.D94N|CHID1_uc001lsp.3_Missense_Mutation_p.D94N|CHID1_uc010qww.2_Missense_Mutation_p.D94N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	94					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.T124M(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TTGGTGACATCGTAGCCATGG	0.562												
WT1	7490	broad.mit.edu	37	11	32413578	32413578	+	Nonsense_Mutation	SNP	G	G	A	rs121907909		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:32413578G>A	uc001mtn.2	-	8	1562	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	WT1_uc001mtl.2_Nonsense_Mutation_p.R246*|WT1_uc001mtm.2_Nonsense_Mutation_p.R229*|WT1_uc001mto.2_Nonsense_Mutation_p.R458*|WT1_uc001mtq.2_Nonsense_Mutation_p.R441*|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	390					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R390*(9)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGAACTTTCGCTGACAAGTT	0.458			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome			
OR5W2	390148	broad.mit.edu	37	11	55681478	55681478	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:55681478A>T	uc010rir.2	-	0	581	c.581T>A	c.(580-582)gTc>gAc	p.V194D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q193K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAACTCATTGACCTGTGTATC	0.393												
ATM	472	broad.mit.edu	37	11	108143569	108143572	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:108143569_108143572delTCAA	uc001pkb.1	+	21	3659_3662	c.3274_3277delTCAA	c.(3274-3279)tcaatcfs	p.S1092fs	ATM_uc009yxr.1_Frame_Shift_Del_p.S1092fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1092					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGCTGCAGAGTCAATCAATAGGTA	0.363			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
FOXM1	2305	broad.mit.edu	37	12	2975658	2975658	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:2975658G>A	uc001qlf.3	-	4	1159	c.876C>T	c.(874-876)caC>caT	p.H292H	FOXM1_uc001qle.3_Silent_p.H292H|FOXM1_uc009zea.3_Silent_p.H291H|FOXM1_uc009zeb.3_Silent_p.H291H|FOXM1_uc001qlg.3_Silent_p.H292H	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	292					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAAACATGTCGTGCAGGGAAA	0.502												
FAM90A1	55138	broad.mit.edu	37	12	8376154	8376154	+	Splice_Site	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:8376154C>T	uc001qui.2	-	6	883	c.324_splice	c.e6-1	p.R108_splice	FAM90A1_uc001quh.2_Splice_Site_p.R108_splice	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	108							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTTGTGGCCTGCAGAACAG	0.542												
PTPRO	5800	broad.mit.edu	37	12	15650274	15650274	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:15650274G>A	uc001rcv.2	+	2	915	c.445G>A	c.(445-447)Gtt>Att	p.V149I	PTPRO_uc001rcw.2_Missense_Mutation_p.V149I|PTPRO_uc001rcu.2_Missense_Mutation_p.V149I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	149	Fibronectin type-III 2.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAATATAACGTTTTCACAAG	0.378												
ANP32D	23519	broad.mit.edu	37	12	48866783	48866783	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:48866783A>C	uc010slt.2	+	0	336	c.336A>C	c.(334-336)ttA>ttC	p.L112F		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	112								p.L112_E113>*(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGAAAAAGTTAGAAAACCTCG	0.408												
NR4A1	3164	broad.mit.edu	37	12	52451031	52451031	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:52451031G>A	uc001rzs.3	+	5	1668	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	NR4A1_uc010sno.2_Missense_Mutation_p.R463H|NR4A1_uc001rzt.3_Missense_Mutation_p.R450H|NR4A1_uc009zmc.3_Missense_Mutation_p.A64T	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	450	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTCATCCTCCGCCTGGCGTAC	0.612												
EFS	10278	broad.mit.edu	37	14	23829158	23829158	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr14:23829158C>T	uc001wjo.3	-	3	1137	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	EFS_uc001wjp.3_Missense_Mutation_p.A84T|EFS_uc010tnm.2_Missense_Mutation_p.A84T	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	177	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCGGGGCAACCCGGGTC	0.652												
GOLGA6L10	647042	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr15:83014106T>C	uc021ssz.1	-	5	577	c.441A>G	c.(439-441)gtA>gtG	p.V147V	LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript			A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	159								p.V159V(12)		endometrium(1)|kidney(4)	5						GTAGCTGCTCTACCTTAGATG	0.498												
CPPED1	55313	broad.mit.edu	37	16	12798557	12798557	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr16:12798557G>A	uc002dca.4	-	2	750	c.639C>T	c.(637-639)atC>atT	p.I213I	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	213							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CGTCCTCGTCGATGCTCTCCA	0.602												
EFNB3	1949	broad.mit.edu	37	17	7612770	7612770	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7612770G>A	uc002gis.3	+	4	1296	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	300					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGCGGGGTGGCGGGGCTGCA	0.667												
DNAH2	146754	broad.mit.edu	37	17	7626952	7626952	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7626952G>A	uc002giu.1	+	1	187	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	DNAH2_uc002git.3_Missense_Mutation_p.R58Q|DNAH2_uc010vuk.2_Missense_Mutation_p.R58Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	58	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTAGAGCCACGGTTGGAGGGA	0.512												
ULK2	9706	broad.mit.edu	37	17	19705231	19705231	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:19705231C>T	uc002gwm.4	-	15	1809	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	ULK2_uc002gwn.3_Missense_Mutation_p.A434T	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	434					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CGTACCACTGCAGATCTGAAA	0.468												
UNC45B	146862	broad.mit.edu	37	17	33482349	33482349	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:33482349G>A	uc002hja.3	+	6	771	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	UNC45B_uc002hjb.3_Missense_Mutation_p.R225Q|UNC45B_uc002hjc.3_Missense_Mutation_p.R225Q|UNC45B_uc010cto.3_Missense_Mutation_p.R225Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	225					cell differentiation|muscle organ development	cytosol	binding	p.R225Q(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGGATAGACCGAATCTGTAGC	0.562												
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:39240908T>C	uc010wfn.2	+	0	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.C150C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607												
RNF43	54894	broad.mit.edu	37	17	56439918	56439918	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:56439918C>T	uc002iwf.3	-	4	2630	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RNF43_uc010wnv.2_Missense_Mutation_p.R184H|RNF43_uc002iwh.4_Missense_Mutation_p.R225H|RNF43_uc002iwg.4_Missense_Mutation_p.R225H|RNF43_uc010dcw.3_Missense_Mutation_p.R98H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	225				R -> H (in Ref. 2; BAH12429).		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCTGTGGCGGGGGCGGCA	0.597												
BPTF	2186	broad.mit.edu	37	17	65889572	65889572	+	Silent	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:65889572T>C	uc002jgf.3	+	5	2203	c.2142T>C	c.(2140-2142)ttT>ttC	p.F714F	BPTF_uc002jge.3_Silent_p.F840F|BPTF_uc010wqm.1_Silent_p.F777F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	840	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAATTATTTTAAATTGGGTC	0.373												
DSC1	1823	broad.mit.edu	37	18	28736074	28736074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:28736074G>A	uc002kwn.3	-	3	665	c.403C>T	c.(403-405)Cga>Tga	p.R135*	DSC1_uc002kwm.3_Nonsense_Mutation_p.R135*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	135	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGAGCCCATCGTCTCTTGCTG	0.413												
ALPK2	115701	broad.mit.edu	37	18	56171191	56171191	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:56171191A>C	uc002lhj.4	-	10	6433	c.6219T>G	c.(6217-6219)agT>agG	p.S2073R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2073	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGGCAGCCACTTGTTTTCT	0.522												
SERPINB2	5273	broad.mit.edu	37	18	61585273	61585273	+	Silent	SNP	C	C	T	rs61761878	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:61585273C>T	uc010xev.2	+	3	399	c.309C>T	c.(307-309)aaC>aaT	p.N103N	SERPINB2_uc010xew.2_Silent_p.N103N	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	118					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAAGCCCAACGATGACTACT	0.353												
C3	718	broad.mit.edu	37	19	6681977	6681977	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:6681977T>G	uc002mfm.3	-	34	4387	c.4325A>C	c.(4324-4326)aAc>aCc	p.N1442T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1442	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GATGAGGGTGTTCCTATCGGA	0.532												
LILRA1	11027	broad.mit.edu	37	19	55086977	55086977	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:55086977G>A	uc010ern.3	+	5	1379	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LILRA1_uc002qgg.4_Missense_Mutation_p.E304K|LILRA1_uc002qgf.3_Missense_Mutation_p.E304K|LILRA1_uc010yfe.1_Missense_Mutation_p.E304K|LILRA1_uc010yff.1_Missense_Mutation_p.E292K|LILRA1_uc010ero.3_Missense_Mutation_p.E292K|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	306	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCTCCTCCGAGTGGTCGGC	0.677												
SLC4A5	57835	broad.mit.edu	37	2	74479508	74479508	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:74479508C>T	uc002sko.1	-	10	1278	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	426						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGGAGAACACAGATTTCCTG	0.552												
UGGT1	56886	broad.mit.edu	37	2	128935427	128935427	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:128935427G>A	uc002tps.3	+	32	3824	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	UGGT1_uc002tpr.3_Missense_Mutation_p.V1192M	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1216					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGCAGATATGGTGAACGAAGA	0.398												
SP110	3431	broad.mit.edu	37	2	231067312	231067312	+	Missense_Mutation	SNP	C	C	T	rs144163010		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:231067312C>T	uc002vqg.3	-	8	1271	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	SP110_uc002vqh.3_Missense_Mutation_p.R344Q|SP110_uc002vqi.4_Missense_Mutation_p.R344Q|SP110_uc010fxk.3_Missense_Mutation_p.R342Q|SP110_uc021vxx.1_Missense_Mutation_p.R350Q|SP110_uc010fxj.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	344					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCGACTTTCGGGCACATTC	0.478												
KIF1A	547	broad.mit.edu	37	2	241657468	241657468	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:241657468G>A	uc010fzk.3	-	48	5580	c.5333_splice	c.e48+1	p.R1778_splice	KIF1A_uc002vzy.3_Splice_Site_p.R1677_splice|KIF1A_uc002vzw.3_Splice_Site_p.R338_splice|KIF1A_uc002vzx.3_Splice_Site_p.R404_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1677					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGCCCTACCGTATGGTCCCG	0.662												
NTSR1	4923	broad.mit.edu	37	20	61386135	61386135	+	Silent	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr20:61386135C>T	uc002ydf.3	+	1	1184	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	271						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAGGCGGCCGAGCAGGGCC	0.632												
WDR48	57599	broad.mit.edu	37	3	39126186	39126186	+	Silent	SNP	T	T	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr3:39126186T>G	uc003cit.3	+	12	1342	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	WDR48_uc011ayt.1_Silent_p.S435S|WDR48_uc011ayu.1_Silent_p.S362S|WDR48_uc011ayv.1_Silent_p.S169S|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	444					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTGGGTTTCTGCAAAAGATG	0.363												
FBXL5	26234	broad.mit.edu	37	4	15626935	15626935	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:15626935C>A	uc003goc.2	-	8	1915	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	FBXL5_uc010idw.2_Missense_Mutation_p.G510V|FBXL5_uc003gob.2_Missense_Mutation_p.G459V|FBXL5_uc010idx.2_Missense_Mutation_p.G596V|FBXL5_uc003god.2_Missense_Mutation_p.G580V|FBXL5_uc010idy.2_Missense_Mutation_p.G597V	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	597					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAGTACACGTCCAGTCTCTTG	0.393												
NIPAL1	152519	broad.mit.edu	37	4	48037778	48037778	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:48037778G>A	uc003gxw.3	+	5	888	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	274						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428												
BMP3	651	broad.mit.edu	37	4	81967723	81967723	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:81967723G>T	uc003hmg.4	+	1	1468	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	383					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCAGATATTGGCTGGAGTGAA	0.478												
NDST4	64579	broad.mit.edu	37	4	115998108	115998108	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:115998108A>G	uc003ibu.3	-	1	764	c.85T>C	c.(85-87)Tct>Cct	p.S29P	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	29						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATAGGCAGAAATGACAATG	0.358												
RAI14	26064	broad.mit.edu	37	5	34811182	34811182	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:34811182delG	uc003jis.3	+	9	1064	c.525delG	c.(523-525)ctgfs	p.L175fs	RAI14_uc003jir.3_Frame_Shift_Del_p.L172fs|RAI14_uc010iur.3_Frame_Shift_Del_p.L172fs|RAI14_uc011coj.2_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jit.3_Frame_Shift_Del_p.L172fs|RAI14_uc011cok.2_Frame_Shift_Del_p.L164fs	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	172						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACTTTCTCCTGGATCATGGAG	0.418												
UGT3A2	167127	broad.mit.edu	37	5	36035914	36035914	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:36035914G>A	uc003jjz.2	-	6	1590	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	UGT3A2_uc011cos.2_Silent_p.L452L|UGT3A2_uc011cot.2_Silent_p.L184L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	486				L -> F (in Ref. 1; AAQ88782).		integral to membrane	glucuronosyltransferase activity	p.L486I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAAACGTCGAGCAGGTACT	0.612												
SLCO6A1	133482	broad.mit.edu	37	5	101816115	101816115	+	Missense_Mutation	SNP	C	C	T	rs111320089	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:101816115C>T	uc003knn.3	-	1	554	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	SLCO6A1_uc003kno.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.3_Missense_Mutation_p.V128I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	128						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAATGCTGACATCTATAAGA	0.328												
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:140516912C>T	uc003liq.3	+	0	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692												
ABLIM3	22885	broad.mit.edu	37	5	148586637	148586637	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:148586637A>G	uc003lpy.2	+	5	766	c.515A>G	c.(514-516)cAc>cGc	p.H172R	ABLIM3_uc003lpz.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqa.1_Missense_Mutation_p.H180R|ABLIM3_uc003lqb.3_Missense_Mutation_p.H172R|ABLIM3_uc003lqc.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqd.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqe.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqf.3_Missense_Mutation_p.H172R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	172	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGTGGCACGTCAGCTGC	0.612												
GABRA1	2554	broad.mit.edu	37	5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:161300296C>A	uc010jiw.3	+	5	897	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_uc010jix.3_Missense_Mutation_p.N143K|GABRA1_uc010jiy.3_Missense_Mutation_p.N143K|GABRA1_uc003lyx.4_Missense_Mutation_p.N143K|GABRA1_uc010jiz.3_Missense_Mutation_p.N143K|GABRA1_uc010jja.3_Missense_Mutation_p.N143K|GABRA1_uc010jjb.3_Missense_Mutation_p.N143K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	143					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCATGCCCAACAAACTCCTGC	0.473												
RARS	5917	broad.mit.edu	37	5	167919770	167919770	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:167919770A>G	uc003lzx.3	+	2	328	c.287A>G	c.(286-288)gAa>gGa	p.E96G	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	96					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCAGATTTGGAAAATCCTCCT	0.418												
HIST1H2BE	8344	broad.mit.edu	37	6	26184206	26184207	+	In_Frame_Ins	INS	-	-	ATC			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:26184206_26184207insATC	uc003ngt.3	+	0	183_184	c.183_184insATC	c.(181-186)insATC	p.62_63insI		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	62					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						AAGCCATGGGGATCATGAATTC	0.574												
SLC35D3	340146	broad.mit.edu	37	6	137245675	137245675	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:137245675G>T	uc003qhe.3	+	1	1257	c.1092G>T	c.(1090-1092)agG>agT	p.R364S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	364					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AAGAGGTCAGGGGCAGCCCCC	0.637												
SYNE1	23345	broad.mit.edu	37	6	152751311	152751311	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:152751311A>T	uc021zhb.1	-	33	4947	c.4724T>A	c.(4723-4725)cTt>cAt	p.L1575H	SYNE1_uc003qot.4_Missense_Mutation_p.L1582H|SYNE1_uc003qou.4_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.3_Missense_Mutation_p.L870H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1575					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAACAGCAAGTTTATCTTC	0.303										HNSCC(10;0.0054)		
C7orf26	79034	broad.mit.edu	37	7	6630085	6630085	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:6630085G>C	uc003sqo.1	+	0	171	c.171G>C	c.(169-171)aaG>aaC	p.K57N	DQ579268_uc021zzi.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.K57N	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	57										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGGTGCCCAAGGAGCGCAGCG	0.701												
DNAH11	8701	broad.mit.edu	37	7	21603893	21603893	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:21603893C>T	uc003svc.3	+	5	1103	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	358	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R358R(1)		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						CCCACAGACACGCATATTAAT	0.443									Kartagener syndrome			
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
SPAM1	6677	broad.mit.edu	37	7	123593667	123593667	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:123593667G>A	uc003vle.3	+	2	482	c.43G>A	c.(43-45)Gtt>Att	p.V15I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.V15I|SPAM1_uc022aks.1_Missense_Mutation_p.V15I|SPAM1_uc003vlf.4_Missense_Mutation_p.V15I|SPAM1_uc010lku.3_Missense_Mutation_p.V15I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	15					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAGAAGCTTTGTTAAATCAAG	0.373												
CUL1	8454	broad.mit.edu	37	7	148484161	148484161	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:148484161C>G	uc010lpg.3	+	12	1954	c.1428C>G	c.(1426-1428)caC>caG	p.H476Q	CUL1_uc003wey.3_Missense_Mutation_p.H476Q|CUL1_uc003wez.3_Missense_Mutation_p.H366Q|CUL1_uc003wfa.3_Missense_Mutation_p.H137Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCTCGTCCACCAGAACAGTG	0.448												
FAM75A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	G	A	rs11261835	by1000genomes	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:43627428G>A	uc011lrb.2	-	3	1288	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	420						integral to membrane		p.P420L(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GTGCAGAGAGGGGAGGCCCCA	0.498												
ENG	2022	broad.mit.edu	37	9	130579436	130579436	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:130579436T>C	uc004bsj.4	-	12	2146	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	ENG_uc011mam.2_Missense_Mutation_p.D389G|ENG_uc004bsk.4_Missense_Mutation_p.D578G|AK057719_uc004bsl.1_Non-coding_Transcript	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	578					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ACCAGACAGGTCAGGGCTGAT	0.572									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia			
CACNA1B	774	broad.mit.edu	37	9	141006952	141006952	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:141006952A>G	uc004cog.3	+	38	5670	c.5525A>G	c.(5524-5526)cAt>cGt	p.H1842R	CACNA1B_uc022bqn.1_Missense_Mutation_p.H1842R|CACNA1B_uc004coi.3_Missense_Mutation_p.H1056R|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.H124R	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1844					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTACCACCCCATAAGCGTAAG	0.577												
CXorf22	170063	broad.mit.edu	37	X	35938122	35938122	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chrX:35938122G>A	uc004ddj.3	+	0	272	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	69										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATATTTGCCGCTGGAACCAG	0.582												
RBMY1B	378948	broad.mit.edu	37	Y	24050305	24050305	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chrY:24050305C>T	uc004fuw.4	-	11	1381	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	RBMY1B_uc010nxc.1_Intron|RBMY1B_uc011nbg.2_Missense_Mutation_p.R373Q|RBMY1B_uc010nxd.3_Missense_Mutation_p.R373Q|RBMY1B_uc004fux.4_Missense_Mutation_p.R270Q|RBMY1B_uc011nbf.2_Missense_Mutation_p.R338Q	NM_001006121	NP_001006118	A6NDE4	RBY1B_HUMAN	Homo sapiens RNA binding motif protein, Y-linked, family 1, member B (RBMY1B), mRNA.	410					male gonad development|mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|protein binding|RNA binding										ATAGGACATCCGAGGCCCTCT	0.448												
