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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAP	2191	broad.mit.edu	37	2	163051247	163051247	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:163051247G>A	uc002ucd.3	-	16	1622	c.1414C>T	c.(1414-1416)Ccc>Tcc	p.P472S	FAP_uc010fpc.3_Missense_Mutation_p.P21S|FAP_uc010zct.2_Missense_Mutation_p.P447S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	472					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P472L(1)|p.P472P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTGGAAATGGGGATGCCTGGG	0.443000														49			25		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17701943	17701943	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:17701943C>T	uc001bak.1	+	2	316	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	98					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATACTATGGGCCCAACGAGGA	0.622000														0			8		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080073	57080073	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:57080073C>G	uc001njr.3	-	3	2401	c.2089G>C	c.(2089-2091)Ggc>Cgc	p.G697R	TNKS1BP1_uc001njs.3_Missense_Mutation_p.G697R|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G148R	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	697	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.G697G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTTGCACCGCCACCACTGGGT	0.622000														42			22		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748020	19748020	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:19748020C>T	uc009zzj.3	-	4	1441	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	446					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTTCACCTTCTTCAGCCTCG	0.562000														67			52		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73552641	73552641	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:73552641C>T	uc002avm.4	+	14	2425	c.2233C>T	c.(2233-2235)Ctt>Ttt	p.L745F	NEO1_uc010ukx.2_Missense_Mutation_p.L745F|NEO1_uc010uky.2_Missense_Mutation_p.L745F|NEO1_uc002avn.4_Missense_Mutation_p.L765F|NEO1_uc010ukz.2_Missense_Mutation_p.L169F	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	745	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GCCTAGCTCTCTTCACGTACG	0.468000														45			51		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76908122	76908122	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:76908122G>A	uc003uga.3	+	11	1621	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	CCDC146_uc010ldp.3_Silent_p.R212R	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	498										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTGAAATCAGGATACACAAGA	0.299000														16			12		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137218	200137218	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:200137218G>A	uc002uuy.2	-	10	2735	c.1918C>T	c.(1918-1920)Cca>Tca	p.P640S	SATB2_uc010fsq.2_Missense_Mutation_p.P522S|SATB2_uc002uva.2_Missense_Mutation_p.P640S|SATB2_uc002uuz.2_Missense_Mutation_p.P640S	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	640						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCTGGTCTGGGTACAGGCCT	0.522000														55			50		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480415	179480415	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179480415C>T	uc021vsy.1	-	206	40934	c.40709G>A	c.(40708-40710)gGa>gAa	p.G13570E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7265E|TTN_uc021vta.1_Missense_Mutation_p.G7198E|TTN_uc021vtb.1_Missense_Mutation_p.G7073E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14497	Ig-like 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGGTTCTCCAGGGCCACA	0.373000														127			61		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611258	62611258	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:62611258G>A	uc003peg.2	-	4	749	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTTCCTGACGAATTTCATCA	0.403000														49			38		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841951	28841951	+	Silent	SNP	C	T	T	rs142904892		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:28841951C>T	uc002dqy.3	+	8	1217	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.I350I|ATXN2L_uc002dqz.3_Silent_p.I350I|ATXN2L_uc002dra.3_Silent_p.I350I|ATXN2L_uc002drb.3_Silent_p.I350I|ATXN2L_uc002drc.3_Silent_p.I350I|ATXN2L_uc010vdb.2_Silent_p.I350I|ATXN2L_uc002dre.3_Silent_p.I350I|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	350						membrane		p.Y349C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGAAGTATATCCCTCTGCCTC	0.562000														24			20		0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95694185	95694185	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:95694185C>T	uc001tdz.2	+	11	2181	c.2076C>T	c.(2074-2076)taC>taT	p.Y692Y	VEZT_uc001tds.3_Silent_p.Y644Y|VEZT_uc001tdv.3_Silent_p.Y665Y|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Silent_p.Y57Y|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	692						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAATGTGTTACCAATGTGAGA	0.438000														35			21		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80726295	80726295	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:80726295G>A	uc002kfy.1	+	5	566	c.436_splice	c.e5-1	p.A146_splice	TBCD_uc002kfx.1_Splice_Site_p.A129_splice|TBCD_uc002kfz.3_Splice_Site_p.A146_splice	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	146					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TAATTTTTTAGGCTTGGGAAA	0.517000														147			97		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393407	179393407	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179393407C>T	uc021vsy.1	-	308	99592	c.99367G>A	c.(99367-99369)Gat>Aat	p.D33123N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D26818N|TTN_uc021vta.1_Missense_Mutation_p.D26751N|TTN_uc021vtb.1_Missense_Mutation_p.D26626N|TTN_uc002umq.3_Missense_Mutation_p.D140N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34050							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTCAAATCATACTGACAC	0.428000														14			11		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768201	117768201	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:117768201C>T	uc001twn.2	-	1	1385	c.674G>A	c.(673-675)gGa>gAa	p.G225E	NOS1_uc001twm.2_Missense_Mutation_p.G225E	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	225	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGTGCCCCTCCCTTGACCCC	0.562000														75			64		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244820	46244820	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46244820G>A	uc003cph.1	-	1	1056	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.P329S	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	329					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGAGGAAGGGGAGCCATTTA	0.582000														34			31		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698696	43698696	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43698696C>T	uc002ovy.3	-	4	1141	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.G254R|PSG4_uc002owb.3_Missense_Mutation_p.G254R	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	347	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGTTTTCTCCTGAACGGTAA	0.483000														143			101		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403231	117403231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117403231C>T	uc001prh.1	-	3	700	c.698G>A	c.(697-699)aGg>aAg	p.R233K	DSCAML1_uc001pri.1_Missense_Mutation_p.R37K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	173	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.H232N(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AATAAAAAACCTGTGTTCTGG	0.512000														33			21		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417963	150417963	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:150417963C>T	uc003whq.3	+	2	1011	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GTTCTGGGTGCTGCTCCACAG	0.667000														6			12		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231306	42231306	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:42231306C>T	uc003ose.2	-	8	2199	c.1636_splice	c.e8-1	p.E546_splice	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Splice_Site_p.E546_splice	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	546	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCTTCCTCCTACACAGAC	0.612000														75			29		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068656	5068656	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5068656C>T	uc010qyv.2	+	0	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAACAGATTCGAGAACGAGT	0.383000														71			34		0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10005967	10005967	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:10005967C>T	uc001qwn.3	-	4	1039	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	128	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						GCACCATCATCGCTGAGGTAG	0.418000														47			25		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1426855	1426855	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:1426855G>A	uc002qwr.3	+	2	219	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.E45K|TPO_uc002qww.3_Missense_Mutation_p.E45K|TPO_uc002qwx.3_Missense_Mutation_p.E45K|TPO_uc002qwu.3_Missense_Mutation_p.E45K|TPO_uc010yio.2_Missense_Mutation_p.E45K|TPO_uc010yip.2_Missense_Mutation_p.E45K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	45					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGTCTTGGAGGAAAGCAAGCG	0.587000														26			13		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304686	3304686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3304686C>T	uc002cun.1	-	1	422	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	128					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCGTTCCCCTCGTTCCCCTCG	0.677000														35			19		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119686	47119686	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:47119686G>A	uc002iom.3	+	8	1358	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	IGF2BP1_uc010dbj.3_Missense_Mutation_p.E203K	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	342	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.E342K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCGAGCAGGAAATAATGAA	0.517000														65			43		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462246	114462246	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:114462246T>C	uc003kqs.3	-	9	2650	c.2141A>G	c.(2140-2142)gAa>gGa	p.E714G	TRIM36_uc011cwc.2_Missense_Mutation_p.E702G|TRIM36_uc003kqt.3_Missense_Mutation_p.E559G	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	714	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GATGGGTTCTTCAAGCTGAAT	0.403000														16			24		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50966505	50966505	+	Missense_Mutation	SNP	C	T	T	rs141422972		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:50966505C>T	uc009xog.3	-	0	249	c.215G>A	c.(214-216)gGt>gAt	p.G72D	OGDHL_uc001jie.3_Missense_Mutation_p.G45D|OGDHL_uc010qgt.2_Missense_Mutation_p.G45D|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_Intron	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	45					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCGCCTCCACCTTTGCTGCT	0.642000														46			32		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267123	48267123	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:48267123C>T	uc001ngs.1	+	0	468	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTCTCATCTTCCACCTGCTCT	0.493000														141			110		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451887	76451887	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:76451887G>A	uc010dhp.2	-	62	10134	c.10009C>T	c.(10009-10011)Cgc>Tgc	p.R3337C	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAGCCCAGCGGATGTTTTCC	0.552000														15			9		0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230459184	230459184	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:230459184G>A	uc010pwb.2	-	6	1379	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	452						integral to membrane		p.P451L(1)|p.P451P(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GTGGGTCGGAGAGGCATCCTC	0.607000														77			33		0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845119	248845119	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248845119G>A	uc001ieu.1	-	0	487	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACGTGCTCCCGAAACATGTTG	0.512000														60			18		0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897323	51897323	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:51897323C>T	uc003dbt.1	+	2	470	c.432C>T	c.(430-432)ctC>ctT	p.L144L	IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Non-coding_Transcript	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	Homo sapiens IQ motif containing F2 (IQCF2), mRNA.	144										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGCTCTCCTCCAGGGCCACT	0.567000														79			47		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1321393	1321393	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:1321393G>A	uc004cpk.2	-	3	364	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CRLF2_uc022brt.1_Missense_Mutation_p.S121F|CRLF2_uc004cpl.2_Missense_Mutation_p.S9F|CRLF2_uc022brs.1_Missense_Mutation_p.S121F	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	121	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGCTTCGGGGAACTGGGTTT	0.537000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									88			63		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189704595	189704595	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:189704595C>T	uc011bsk.2	-	5	1558	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	LEPREL1_uc003fsg.3_Silent_p.G209G	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	390					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTATGAAAACCCCAGACCTT	0.353000														76			36		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175899014	175899014	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:175899014C>T	uc003iuc.3	+	4	3008	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	ADAM29_uc003iud.3_Missense_Mutation_p.P780S|ADAM29_uc010irr.3_Missense_Mutation_p.P780S|ADAM29_uc011cki.2_Missense_Mutation_p.P780S|ADAM29_uc021xuo.1_Missense_Mutation_p.P780S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	780	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAGTCAACCTCCTGTGATGCC	0.572000														81			67		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533752	55533752	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:55533752C>T	uc003xsd.1	+	1	374	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	RP1_uc011ldy.1_Missense_Mutation_p.L76F	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	76	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.L76L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAGGTGCCCCTCCCTTTTGG	0.612000														69			60		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186062681	186062681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:186062681C>T	uc001grq.1	+	65	10305	c.10076C>T	c.(10075-10077)tCa>tTa	p.S3359L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3359	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGGATACTTCAATAAATATT	0.443000														59			67		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64515463	64515463	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:64515463C>T	uc001dbj.2	+	2	663	c.264C>T	c.(262-264)acC>acT	p.T88T	ROR1_uc001dbi.4_Silent_p.T88T	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	88	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACCTCCCACCATCCGCTGGT	0.542000														150			74		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55361663	55361663	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55361663C>T	uc010spd.1	-	3	353	c.220G>A	c.(220-222)Gga>Aga	p.G74R	TESPA1_uc001sgl.3_5'UTR|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_5'UTR|TESPA1_uc001sgn.3_Missense_Mutation_p.G74R	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	74																	TCAGAAAATCCTTCTTCAGAG	0.368000														23			25		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860951	21860951	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21860951G>A	uc001war.2	-	32	6551	c.6486C>T	c.(6484-6486)aaC>aaT	p.N2162N	CHD8_uc001was.2_Silent_p.N1883N|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2162					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGTCAATACGGTTTATCAGGA	0.483000														67			46		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160282899	160282899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:160282899G>A	uc001fvv.4	-	9	1295	c.901C>T	c.(901-903)Cct>Tct	p.P301S	COPA_uc009wti.3_Missense_Mutation_p.P301S|COPA_uc009wtj.1_Missense_Mutation_p.P247S	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	301					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTAAGGTTAGGGTGAGCAGCT	0.393000														63			21		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2429012	2429012	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:2429012C>T	uc010qxl.2	-	18	2922	c.2913G>A	c.(2911-2913)atG>atA	p.M971I	TRPM5_uc001lwm.4_Missense_Mutation_p.M971I|TRPM5_uc009ydn.3_Missense_Mutation_p.M973I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	971						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGCAGGTTCATGAGCAGCA	0.602000														36			37		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927669	55927669	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55927669T>C	uc010rja.2	-	0	125	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATAGTTAGGTTGCCCACCAC	0.423000														80			62		0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82627088	82627088	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:82627088G>A	uc003ycj.2	-	4	332	c.309C>T	c.(307-309)atC>atT	p.I103I	ZFAND1_uc010lzx.2_Silent_p.I103I|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_5'UTR|ZFAND1_uc003yck.2_5'UTR|ZFAND1_uc022awv.1_Silent_p.I103I|ZFAND1_uc022aww.1_5'UTR	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.	103							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAGGCTTTGGGATTTCCAGTT	0.408000														52			41		0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875685	75875685	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:75875685G>A	uc001sxs.3	+	1	394	c.246G>A	c.(244-246)cgG>cgA	p.R82R	GLIPR1_uc009zsb.1_Silent_p.R82R	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	82					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATAATACACGGCTGAAGCCAC	0.478000														90			54		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89417125	89417125	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:89417125G>A	uc010upo.1	+	16	7760	c.7386G>A	c.(7384-7386)aaG>aaA	p.K2462K	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2462					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCGGGCAGAAGAAGGACCGGT	0.612000														18			12		0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036896	177036896	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:177036896A>G	uc002ukt.1	+	2	1369	c.1193A>G	c.(1192-1194)aAc>aGc	p.N398S		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	398					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ATTCCAGGCAACCACCACCAT	0.652000														29			17		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973124	121973124	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121973124G>A	uc003eew.4	+	1	526	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	CASR_uc003eev.4_Missense_Mutation_p.G30R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	30					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAAAAGAAGGGGGACATTAT	0.517000														73			43		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70884537	70884537	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70884537G>A	uc002ezr.3	-	73	12613	c.12462C>T	c.(12460-12462)ttC>ttT	p.F4154F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4155										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTTTGGTGTGAAGAAAATAT	0.403000														31			28		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18669075	18669075	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:18669075C>T	uc003sui.3	+	5	808	c.767C>T	c.(766-768)tCa>tTa	p.S256L	HDAC9_uc003sue.3_Missense_Mutation_p.S253L|HDAC9_uc011jyd.2_Missense_Mutation_p.S253L|HDAC9_uc003suh.3_Missense_Mutation_p.S253L|HDAC9_uc003suj.3_Intron|HDAC9_uc011jya.2_Intron|HDAC9_uc003sua.1_Intron|HDAC9_uc003sud.2_Missense_Mutation_p.S253L|HDAC9_uc011jyc.2_Intron|HDAC9_uc011jyb.2_Intron|HDAC9_uc003suf.2_Missense_Mutation_p.S284L|HDAC9_uc010kud.2_Missense_Mutation_p.S256L|HDAC9_uc011jye.2_Missense_Mutation_p.S225L|HDAC9_uc011jyf.2_Intron|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	253	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTTGTCACTTCATTCAAGAAG	0.438000														19			13		0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600173	54600173	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54600173C>T	uc002qdd.3	-	3	541	c.424G>A	c.(424-426)Gat>Aat	p.D142N	OSCAR_uc002qcy.3_Missense_Mutation_p.D121N|OSCAR_uc002qcz.3_Missense_Mutation_p.D117N|OSCAR_uc002qda.3_Missense_Mutation_p.D121N|OSCAR_uc002qdb.3_Missense_Mutation_p.D106N|OSCAR_uc010erc.3_Missense_Mutation_p.R84Q|OSCAR_uc002qdc.3_Missense_Mutation_p.D131N|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	117	Ig-like 2.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					TCCAGGACATCGCTGGGCTGG	0.607000														19			20		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90055394	90055394	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:90055394G>A	uc003kju.3	+	57	12205	c.12109G>A	c.(12109-12111)Gaa>Aaa	p.E4037K	GPR98_uc003kjt.3_Missense_Mutation_p.E1743K|GPR98_uc003kjv.3_Missense_Mutation_p.E1637K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4037					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTTGGATTTGAAGAAAAGAC	0.378000														17			9		0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723746	103723746	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:103723746G>A	uc003hwk.3	-	4	631	c.170C>T	c.(169-171)cCt>cTt	p.P57L	UBE2D3_uc003hwi.3_Missense_Mutation_p.P57L|UBE2D3_uc003hwl.3_Missense_Mutation_p.P57L|UBE2D3_uc011cet.2_Missense_Mutation_p.P57L|UBE2D3_uc011ceu.2_Missense_Mutation_p.P57L|UBE2D3_uc003hwo.3_Missense_Mutation_p.P57L|UBE2D3_uc003hwp.3_Missense_Mutation_p.P57L|UBE2D3_uc003hwq.3_Missense_Mutation_p.P59L|UBE2D3_uc003hwr.3_Missense_Mutation_p.P57L	NM_181887	NP_871620	P61077	UB2D3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 3 (UBE2D3), transcript variant 3, mRNA.	57					BMP signaling pathway|DNA repair|apoptosis|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GTAGTCTGTAGGAAAATGAAT	0.318000														38			43		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128481310	128481310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128481310G>A	uc003vnz.4	+	11	2109	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	FLNC_uc003voa.4_Missense_Mutation_p.E634K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	634					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGCCCACGGAGCCTGGGGA	0.622000														101			85		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513517	61513517	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61513517G>A	uc002ydr.2	-	15	4103	c.3791C>T	c.(3790-3792)cCg>cTg	p.P1264L	DIDO1_uc002yds.2_Missense_Mutation_p.P1264L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1264	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAGAGGGGGCGGAGGCGGCGG	0.642000														70			60		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15967405	15967405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:15967405G>A	uc002gpo.3	-	34	5467	c.5198C>T	c.(5197-5199)tCc>tTc	p.S1733F	NCOR1_uc002gpn.3_Missense_Mutation_p.S1749F|NCOR1_uc002gpm.3_Missense_Mutation_p.S253F|NCOR1_uc010vwb.2_Missense_Mutation_p.S317F|NCOR1_uc010coy.3_Missense_Mutation_p.S641F|NCOR1_uc010vwc.2_Missense_Mutation_p.S543F	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1733	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGGTCGGAGGAAGCTGCAGC	0.567000														41			28		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564370	139564370	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139564370C>A	uc021zfy.1	-	9	1513	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	450						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCGTTTCTCTCTTCTTGTAAA	0.433000														33			39		1.56738e-10	1.57905e-10	1	1	0
RNF17	56163	broad.mit.edu	37	13	25416217	25416217	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:25416217G>A	uc001upr.3	+	18	2562	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	RNF17_uc010tdd.1_Missense_Mutation_p.D700N|RNF17_uc010tde.2_Missense_Mutation_p.D841N|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D780N|RNF17_uc010aac.3_Missense_Mutation_p.D39N|RNF17_uc010aad.3_5'Flank	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	841					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGAGCTTTTCGATTCTCTTGG	0.348000														48			39		0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122364492	122364492	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:122364492G>A	uc003kth.3	-	2	408	c.303C>T	c.(301-303)atC>atT	p.I101I	PPIC_uc011cwp.1_3'UTR	NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	101	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CTCCAGTGGTGATGTCACCTC	0.393000														29			19		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896736	227896736	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:227896736C>T	uc021vxr.1	-	38	3843	c.3742G>A	c.(3742-3744)Gga>Aga	p.G1248R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1248R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1248	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAGCTCTTCCTGTGGCACCT	0.493000														33			22		0	0	1	0	0
MMGT1	93380	broad.mit.edu	37	X	135047201	135047201	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135047201G>A	uc011mvw.1	-	4	655	c.573C>T	c.(571-573)ctC>ctT	p.L191L	MMGT1_uc022cet.1_Silent_p.L96L|MMGT1_uc004ezi.1_Silent_p.L126L	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	Homo sapiens membrane magnesium transporter 1 (MMGT1), mRNA.	126						Golgi membrane|early endosome membrane|endoplasmic reticulum membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						GCAGTGATTCGAGTTTTCGTA	0.408000														13			113		0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980968	23980968	+	RNA	SNP	T	A	A	rs13056126	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:23980968T>A	uc002zxh.4	-	4		c.3522A>T			GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Non-coding_Transcript|GUSBP11_uc002zxl.4_Non-coding_Transcript|GUSBP11_uc011aiz.2_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA.																		GGGCGTGGTCTTCTCCACGCT	0.562000														26			3		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447362	85447362	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:85447362C>T	uc002blg.3	+	6	698	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	SLC28A1_uc010upd.1_Silent_p.L88L|SLC28A1_uc010bnb.3_Silent_p.L166L|SLC28A1_uc010upe.2_Silent_p.L166L|SLC28A1_uc010upf.1_Silent_p.L166L|SLC28A1_uc010upg.1_Silent_p.L166L	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	166					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGCCTGGTCCTGTGGCTGTC	0.582000														44			27		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2583	2583	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrGL000237.1:2583G>A	uc011mgu.1	-	0		c.104C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		agagcgagacgagccacggtg	0.607000														12			4		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119100522	119100522	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:119100522G>A	uc001lde.1	-	1	1163	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	322					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTTTAAGACGGCCTTCAGTA	0.378000														35			24		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103461	113103461	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:113103461G>A	uc021qqp.1	+	12	1891	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	NCAM1_uc001pnp.3_Missense_Mutation_p.D471N|NCAM1_uc021qqo.1_Missense_Mutation_p.D471N|NCAM1_uc001pnq.3_Missense_Mutation_p.D481N|NCAM1_uc001pnr.3_Missense_Mutation_p.D471N	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	483	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTCTGAGAATGATTTTGGGAA	0.448000														31			23		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161771939	161771939	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161771939C>T	uc001gbs.3	+	6	903	c.786C>T	c.(784-786)gtC>gtT	p.V262V	ATF6_uc001gbq.2_Silent_p.V262V	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	262					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CTGGGGGAGTCACACAGCTCC	0.527000														103			33		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698901	21698901	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21698901G>A	uc002djh.3	+	6	568	c.567G>A	c.(565-567)ggG>ggA	p.G189G	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.G110G	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	189					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGTCCTCAGGGAGCTTTCTCC	0.547000														30			32		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13780963	13780963	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13780963C>A	uc003jfd.2	-	52	8968	c.8926G>T	c.(8926-8928)Gtt>Ttt	p.V2976F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2976	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGAAGGAAACGTAGCCAGCA	0.488000									Kartagener syndrome					30			20		2.39187e-15	2.4196e-15	1	1	0
BNC2	54796	broad.mit.edu	37	9	16436006	16436006	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:16436006G>A	uc003zml.3	-	5	2326	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	BNC2_uc011lmw.2_Missense_Mutation_p.S634L|BNC2_uc003zmm.3_Missense_Mutation_p.S687L|BNC2_uc003zmq.1_Missense_Mutation_p.S743L|BNC2_uc003zmr.1_Missense_Mutation_p.S766L|BNC2_uc003zmp.1_Missense_Mutation_p.S757L|BNC2_uc010mij.1_Missense_Mutation_p.S651L|BNC2_uc011lmv.2_Missense_Mutation_p.S555L|BNC2_uc003zmo.1_Missense_Mutation_p.S651L|BNC2_uc003zmj.3_Missense_Mutation_p.S494L|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.S494L|BNC2_uc003zmn.1_Missense_Mutation_p.S494L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTTGGGCTCCGAAGACTCAGA	0.512000														13			43		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3838336	3838336	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:3838336C>T	uc002wjw.4	+	2	344	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	MAVS_uc002wjv.3_Missense_Mutation_p.L58F|MAVS_uc002wjx.4_Intron|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	58	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTGGCATCTCTTCAATAC	0.617000														65			46		0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16074047	16074047	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16074047C>T	uc001axc.3	+	5	1090	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	318						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGATTTTCCATCCCAGAG	0.637000														11			40		0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12790159	12790159	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:12790159G>A	uc011auv.1	-	2	421	c.254C>T	c.(253-255)tCc>tTc	p.S85F	TMEM40_uc003bxg.1_Missense_Mutation_p.S69F|TMEM40_uc003bxh.1_Missense_Mutation_p.S69F	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	69						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TATACCTgaggaggaggagga	0.388000														86			50		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189578	59189578	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59189578G>A	uc010rkt.2	-	0	849	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCACCACGGGGATCACCAAGG	0.483000														60			26		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863568	55863568	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55863568C>T	uc010spn.2	-	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACATAGCGATCATAGGACAGA	0.398000														48			31		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763459	77763459	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77763459C>T	uc003yau.2	+	9	4689	c.4302C>T	c.(4300-4302)ttC>ttT	p.F1434F	ZFHX4_uc003yaw.1_Silent_p.F1389F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1389						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCAGTTTCCGTACATTCC	0.468000										HNSCC(33;0.089)				21			16		0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512738	248512738	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248512738C>T	uc010pzl.2	+	0	662	c.662C>T	c.(661-663)tCg>tTg	p.S221L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F220I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CACATCTTTTCGACCGTGCTC	0.498000														96			20		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848886	54848886	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54848886G>A	uc002qfj.3	-	4	794	c.737C>T	c.(736-738)tCt>tTt	p.S246F	LILRA4_uc002qfi.3_Missense_Mutation_p.S180F	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	246	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCCGACATCAGAGCCACACTG	0.652000														22			22		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6138254	6138254	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:6138254G>A	uc002kmz.4	-	13	1298	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	L3MBTL4_uc002kmy.4_Missense_Mutation_p.P380S|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P380S	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	380					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCGGGAGTAGGACAGACAGCT	0.438000														28			7		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107007391	107007392	+	RNA	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:107007391_107007392GG>AA	uc002tdp.3	+	2		c.240_241GG>AA								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		GACTGGGAATGGAAAGAACTAC	0.460000														18			8		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658153	142658153	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142658153G>A	uc003wcb.3	-	3	472	c.262C>T	c.(262-264)Cat>Tat	p.H88Y		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	88					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCAGGTAATGATCCCGGAGA	0.542000														59			38		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140729876	140729876	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140729876C>T	uc003ljo.2	+	0	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.P17S	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACTGTTTCCCTTCCTGCT	0.512000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			14		0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37569729	37569729	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:37569729G>A	uc001uvy.3	-	1	138	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ALG5_uc010teq.2_Missense_Mutation_p.S24F|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	24					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGCAACGATGGAAATCTAAAA	0.333000														31			20		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040462	107040462	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:107040462C>T	uc010ywi.1	-	19	4018	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1321					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACATCAGATTCTTCATCAGTG	0.403000														136			77		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113326251	113326251	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113326251G>A	uc003ynu.3	-	48	7739	c.7580C>T	c.(7579-7581)tCc>tTc	p.S2527F	CSMD3_uc003yns.3_Missense_Mutation_p.S1729F|CSMD3_uc003ynt.3_Missense_Mutation_p.S2487F|CSMD3_uc011lhx.2_Missense_Mutation_p.S2423F|CSMD3_uc003ynw.1_Missense_Mutation_p.S238F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCACTGAGGGAAATAAGCAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				54			31		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723110	58723110	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58723110G>A	uc001nnh.2	+	6	662	c.612G>A	c.(610-612)caG>caA	p.Q204Q	GLYATL1_uc001nnf.3_Silent_p.Q173Q|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.Q173Q|GLYATL1_uc001nnj.2_Silent_p.Q173Q	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	173						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGTATGCCCAGCTGGATGTCT	0.453000														42			38		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377560	230377560	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:230377560C>T	uc002vpv.3	-	5	1233	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A	DNER_uc010zly.1_Silent_p.A90A	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	362	EGF-like 4.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAATACAGCTCGCGTTGTTTT	0.438000														73			44		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936603	30936603	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:30936603G>A	uc002nsu.1	+	1	2272	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ZNF536_uc010edd.1_Missense_Mutation_p.E712K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGTGCCCAGGAGGACAGCCC	0.677000														28			16		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424437	125424437	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125424437C>T	uc022bmz.1	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S198F(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTGGTTCTCTCCTTCTGCATT	0.463000														190			146		0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156445004	156445004	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156445004G>A	uc001fpc.3	-	8	1292	c.902C>T	c.(901-903)tCc>tTc	p.S301F	MEF2D_uc001fpb.3_Missense_Mutation_p.S294F|MEF2D_uc001fpd.3_Missense_Mutation_p.S294F|MEF2D_uc009wsa.3_Intron|MEF2D_uc001fpe.1_Missense_Mutation_p.S301F	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	301					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTAGACTGGGAGACCCCAAG	0.582000														66			18		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50929253	50929253	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:50929253G>A	uc002lfe.2	+	18	3541	c.2925G>A	c.(2923-2925)ggG>ggA	p.G975G	DCC_uc010xdr.1_Silent_p.G803G|DCC_uc010dpf.2_Silent_p.G610G	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	975	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGCCAATGGGAAAATTACTG	0.532000														128			54		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656492	8656492	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:8656492G>A	uc010cnz.1	-	5	855	c.678C>T	c.(676-678)caC>caT	p.H226H		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	226										breast(1)|endometrium(2)|kidney(1)	4						CCCACACCCAGTGCTCTGGGT	0.602000														27			12		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248385	55248385	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55248385C>T	uc001sgk.3	+	0	87	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	7						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						CTTAGCAGTCCTGGTACTCTT	0.433000														24			23		0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22048792	22048792	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:22048792C>T	uc002kvi.3	+	1	334	c.234C>T	c.(232-234)ttC>ttT	p.F78F	HRH4_uc010xbd.2_Intron|HRH4_uc010dlx.3_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	78						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ACACGCTGTTCGAATGGGATT	0.398000														78			24		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91465176	91465176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:91465176C>T	uc001kgs.1	+	1	197	c.125C>T	c.(124-126)tCc>tTc	p.S42F	KIF20B_uc001kgr.1_Missense_Mutation_p.S42F	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	42					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity	p.S42F(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CATGAATTTTCCTTAGTTGCT	0.393000														46			23		0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51718487	51718487	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:51718487C>T	uc021wyu.1	+	2	409	c.317C>T	c.(316-318)tCg>tTg	p.S106L	TEX264_uc021wyt.1_Intron|TEX264_uc010hls.3_Missense_Mutation_p.S106L|TEX264_uc003dbk.4_Missense_Mutation_p.S106L|TEX264_uc010hlt.3_5'UTR|TEX264_uc003dbm.4_Missense_Mutation_p.S106L	NM_001243726	NP_001230655	Q9Y6I9	TX264_HUMAN	Homo sapiens testis expressed 264 (TEX264), transcript variant 4, mRNA.	106						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGTGAGGAATCGCCCTCCCCT	0.582000														31			14		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14015938	14015938	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:14015938C>T	uc002dce.2	+	1	267	c.258C>T	c.(256-258)cgC>cgT	p.R86R	ERCC4_uc010bva.3_Silent_p.R86R	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	86					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACCTCCCTCGCCGTGTAACAA	0.378000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					26			13		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769251	247769251	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:247769251C>T	uc010pyz.2	+	0	364	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGCCTTGGATCGGTACATTGC	0.507000														120			169		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722360	58722360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58722360C>T	uc001nnh.2	+	4	447	c.397C>T	c.(397-399)Caa>Taa	p.Q133*	GLYATL1_uc001nnf.3_Nonsense_Mutation_p.Q102*|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Nonsense_Mutation_p.Q102*|GLYATL1_uc001nnj.2_Nonsense_Mutation_p.Q102*	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	102						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ACAGAGACTCCAAATCCAAGG	0.398000														34			27		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28852029	28852029	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:28852029G>A	uc002rmb.2	+	52	3839	c.3795G>A	c.(3793-3795)ggG>ggA	p.G1265G	PLB1_uc010ezj.2_Silent_p.G1254G|PLB1_uc002rme.2_Silent_p.G230G	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1265	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCCAAGGCGGGAAATGTGCCA	0.617000														24			22		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21080785	21080785	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21080785C>T	uc010vbe.2	-	22	3332	c.3332G>A	c.(3331-3333)aGg>aAg	p.R1111K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1111	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCAAATTTCCTCCCCTCTTC	0.433000														78			45		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24349474	24349474	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:24349474T>G	uc003xeb.3	+	13	1528	c.1415T>G	c.(1414-1416)aTg>aGg	p.M472R	ADAM7_uc003xec.3_Missense_Mutation_p.M244R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	472	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCCTGAGATGTGCACTGGC	0.448000														41			33		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274980	123274980	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:123274980C>T	uc003ieh.3	+	79	14158	c.14113C>T	c.(14113-14115)Cat>Tat	p.H4705Y	KIAA1109_uc003iem.3_Missense_Mutation_p.H1061Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4705					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCCAGTGATCATTCTACATA	0.323000														31			15		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727516	71727516	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:71727516A>G	uc001orl.1	-	13	1352	c.1180T>C	c.(1180-1182)Ttg>Ctg	p.L394L	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Silent_p.L394L|NUMA1_uc001orm.1_Silent_p.L394L|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Silent_p.L394L|NUMA1_uc001oro.1_Silent_p.L394L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	394					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGGGACAAGTGTTCTTCC	0.517000			T	RARA	APL									57			41		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23244743	23244743	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23244743G>T	uc001wgr.4	-	6	1143	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L	SLC7A7_uc001wgs.4_Missense_Mutation_p.F335L|SLC7A7_uc001wgt.4_Missense_Mutation_p.F335L|SLC7A7_uc001wgu.4_Missense_Mutation_p.F335L|SLC7A7_uc001wgv.4_Missense_Mutation_p.F335L	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	335					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGCCCACAAAGAAAAGCCTAT	0.512000														40			33		5.60225e-13	5.65662e-13	1	1	0
VSTM2A	222008	broad.mit.edu	37	7	54636770	54636770	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:54636770T>A	uc010kzf.3	+	4	1108	c.703T>A	c.(703-705)Ttg>Atg	p.L235M	AB074160_uc022adl.1_Intron|AB074160_uc003tqd.3_5'Flank	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	235						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GAAGGGTGCTTTGCTTTAATC	0.423000														8			6		0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16633556	16633556	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:16633556C>T	uc003cba.3	-	10	1182	c.894_splice	c.e10+1	p.K298_splice	DAZL_uc003cbb.3_Splice_Site_p.K278_splice	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	278					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TATATTCATACCTTGAAGTAG	0.353000														61			58		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801837	14801837	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:14801837G>A	uc003zlm.3	-	20	4323	c.3507C>T	c.(3505-3507)tcC>tcT	p.S1169S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1169					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGCTGATGATGGAAGAGTCCA	0.488000														8			55		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891289	29891289	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:29891289G>A	uc010vec.2	-	8	1714	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S420L|SEZ6L2_uc002dur.4_Missense_Mutation_p.S420L|SEZ6L2_uc002duq.4_Missense_Mutation_p.S490L|SEZ6L2_uc010ved.2_Missense_Mutation_p.S446L|SEZ6L2_uc002dus.4_Missense_Mutation_p.S376L	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	490	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGAGGCACGAGAAGGTTGC	0.627000														90			59		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29679433	29679433	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:29679433G>A	uc002hgg.3	+	51	7998	c.7615_splice	c.e51+1	p.G2539_splice	NF1_uc002hgh.3_Splice_Site_p.G2518_splice|NF1_uc010cso.3_Splice_Site_p.G727_splice|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2539					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAGTTGCTTGGTTAGTTTATC	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				21			15		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7709439	7709439	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:7709439C>T	uc003jdz.1	+	9	1584	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	ADCY2_uc011cmo.1_Missense_Mutation_p.P326L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	506					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.K505>?(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCAGCCAAGCCCTTTGCACAC	0.612000														29			14		0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105557937	105557937	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:105557937C>T	uc010swr.2	+	30	3296	c.3209C>T	c.(3208-3210)tCa>tTa	p.S1070L	KIAA1033_uc001tld.3_Missense_Mutation_p.S1069L|KIAA1033_uc010sws.2_Missense_Mutation_p.S881L	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	1069					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGTTTGATTCACTTCACTGG	0.408000														49			32		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563369	8563369	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8563369C>T	uc002mkd.3	-	1	1386	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	489	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCAGAGGCCTCCGCCGGGGTG	0.711000														12			5		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021271	96021271	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:96021271C>T	uc004ati.1	+	10	2441	c.2441C>T	c.(2440-2442)cCt>cTt	p.P814L	WNK2_uc011lud.1_Missense_Mutation_p.P814L|WNK2_uc004atj.3_Missense_Mutation_p.P814L|WNK2_uc004atk.3_Missense_Mutation_p.P451L|WNK2_uc010mrc.1_Missense_Mutation_p.P762L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	814					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GACGGCCTCCCTCCGGCCCTC	0.657000														27			19		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663352	71663352	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71663352G>A	uc002fau.3	+	1	613	c.550G>A	c.(550-552)Gga>Aga	p.G184R	MARVELD3_uc002fas.1_Missense_Mutation_p.G184R|MARVELD3_uc002fat.3_Missense_Mutation_p.G184R|MARVELD3_uc010cge.3_Silent_p.K129K	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	184						integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AGAGGCGGAAGGACTCCTGGA	0.512000														49			42		0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139741747	139741747	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:139741747C>T	uc003lfm.2	+	4	814	c.779C>T	c.(778-780)tCc>tTc	p.S260F	SLC4A9_uc003lfj.2_Missense_Mutation_p.S236F|SLC4A9_uc011czg.1_Missense_Mutation_p.S236F|SLC4A9_uc003lfl.2_Missense_Mutation_p.S236F|SLC4A9_uc003lfk.2_Missense_Mutation_p.S236F	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	260						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGAGGTGTCCCTCCCAAGC	0.597000														4			6		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61956379	61956379	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61956379C>T	uc001jky.3	-	14	2032	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	ANK3_uc010qih.2_Missense_Mutation_p.G548E|ANK3_uc001jkz.4_Missense_Mutation_p.G559E|ANK3_uc001jlb.1_Missense_Mutation_p.G94E|ANK3_uc001jlc.1_Missense_Mutation_p.G226E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	565					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGAGTAAATCCTTTCTGaaa	0.353000														18			12		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404357	197404357	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197404357G>A	uc001gtz.3	+	8	3573	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	CRB1_uc010poz.2_Missense_Mutation_p.E1098K|CRB1_uc009wza.3_Missense_Mutation_p.E1010K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E603K|CRB1_uc001gub.1_Missense_Mutation_p.E771K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1122	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAACCTCAGGAAGAGCAATT	0.398000														63			105		0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005509	1005509	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:1005509G>A	uc002lqo.1	+	2	2009	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	670					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTCATGGTCGGGGACAAGACC	0.701000														38			22		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554962	54554962	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:54554962G>A	uc002iun.1	+	14	1931	c.1896G>A	c.(1894-1896)aaG>aaA	p.K632K		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	632										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TTACCCAAAAGTTGCCCAACA	0.403000														70			42		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559170	41559171	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:41559170_41559171GG>AA	uc002yyq.1	-	13	3118_3119	c.2666_2667CC>TT	c.(2665-2667)ccc>cTT	p.P889L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	889	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTCAATTTCGGGAGGGTCTGG	0.475000														26			15		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198106	170198106	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:170198106C>T	uc003fgz.2	-	6	2281	c.1965G>A	c.(1963-1965)tgG>tgA	p.W655*	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	655						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAAACCGGATCCATGTGATGG	0.498000														80			54		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862830	31862830	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:31862830C>T	uc003tcm.2	-	13	1900	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PDE1C_uc003tcn.1_Missense_Mutation_p.R480Q|PDE1C_uc003tco.2_Missense_Mutation_p.R540Q|PDE1C_uc003tcr.3_Missense_Mutation_p.R480Q|PDE1C_uc003tcs.3_Missense_Mutation_p.R480Q	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	480	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GACACCTGATCGCTTGGCATC	0.438000														42			23		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891941	18891941	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:18891941T>C	uc001rdy.3	+	0	897	c.739T>C	c.(739-741)Tta>Cta	p.L247L	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	247					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L247*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATTACAGGAGTTATCCAATGA	0.433000														43			30		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791266	209791266	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:209791266C>T	uc001hhg.3	-	18	3427	c.3037G>A	c.(3037-3039)Gac>Aac	p.D1013N	LAMB3_uc009xco.3_Missense_Mutation_p.D1013N|LAMB3_uc001hhh.3_Missense_Mutation_p.D1013N	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1013	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCAACCCTGTCCTGGATAAGC	0.552000														49			70		0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46783974	46783974	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46783974C>T	uc010hjl.3	-	3	588	c.553G>A	c.(553-555)Ggt>Agt	p.G185S	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	217	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GTGTACACACCTGGATTCTGT	0.547000														86			62		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510988	104510988	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:104510988C>T	uc003hxe.1	-	4	1390	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	417						integral to plasma membrane	tachykinin receptor activity	p.D417N(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGTCTGCATCGTTGGGGTCA	0.527000														119			110		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298345	107298345	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:107298345G>A	uc004bcb.1	-	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGTAGAGGATGAACATATAGG	0.428000														76			53		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817335	69817335	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69817335C>T	uc003hef.2	-	0	175	c.144G>A	c.(142-144)gtG>gtA	p.V48V	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	48						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATGGCCTCTCACTATGAGCT	0.468000														78			38		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356859	55356859	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55356859C>T	uc010spd.1	-	8	956	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	TESPA1_uc001sgl.3_Missense_Mutation_p.E137K|TESPA1_uc001sgm.3_Missense_Mutation_p.E22K|TESPA1_uc010spb.1_Missense_Mutation_p.E22K|TESPA1_uc010spc.1_Missense_Mutation_p.E137K|TESPA1_uc001sgn.3_Missense_Mutation_p.E275K	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	275																	GACTGGGGTTCAGGCTCTCGG	0.552000														29			22		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458966	45458966	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45458966G>A	uc001rol.3	-	0		c.229C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TTTATCAAAAGATCCTTGTAT	0.438000														29			12		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139214	126139214	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:126139214G>A	uc001uhe.1	+	8	3203	c.3195G>A	c.(3193-3195)caG>caA	p.Q1065Q	TMEM132B_uc001uhf.1_Silent_p.Q577Q|TMEM132B_uc021rgm.1_5'Flank	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1065						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGGATTCACAGGACTTTAGAG	0.463000														53			32		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221951	140221951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140221951G>A	uc003lhs.2	+	0	1045	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E349K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	364	Cadherin 3.				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)			TAACGTCCCTGAGATAGCACT	0.468000														75			54		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51293367	51293367	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:51293367T>C	uc001zyx.2	+	19	3347	c.3240T>C	c.(3238-3240)atT>atC	p.I1080I	AP4E1_uc021skz.1_Silent_p.I1005I|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1080					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GACTCCATATTATTGAGATTA	0.333000														50			40		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120037	55120037	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55120037C>T	uc003pcl.3	+	2	821	c.506C>T	c.(505-507)gCc>gTc	p.A169V	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.A104V	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	169					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAAGCGGGCCCGTAACAGC	0.507000														83			47		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459984	107459984	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:107459984G>A	uc002tdq.3	-	1	569	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ST6GAL2_uc002tdr.3_Silent_p.F150F|ST6GAL2_uc002tds.3_Silent_p.F150F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	150					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGGGGAAGGGAATCCCAATG	0.612000														106			59		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35959447	35959447	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:35959447C>T	uc003olm.3	-	6	1042	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	SLC26A8_uc003oll.3_Intron|SLC26A8_uc003oln.3_Missense_Mutation_p.E311K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	311					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGAAATAATTCCATGGGAAAC	0.318000														25			34		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18751288	18751288	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:18751288G>A	uc001mpd.3	-	12	1838	c.1407C>T	c.(1405-1407)ccC>ccT	p.P469P	PTPN5_uc001mpb.3_Silent_p.P437P|PTPN5_uc001mpc.3_Silent_p.P469P|PTPN5_uc010rdj.2_Silent_p.P413P|PTPN5_uc001mpf.3_Silent_p.P445P|PTPN5_uc001mpe.3_Silent_p.P437P|PTPN5_uc010rdk.2_Silent_p.P414P	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	469	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCAGGAGTGGGGGGGCCCGGT	0.672000														45			28		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117703169	117703169	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:117703169G>A	uc001twn.2	-	11	2799	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	NOS1_uc021ren.1_Silent_p.F360F|NOS1_uc021reo.1_Silent_p.F360F|NOS1_uc001twm.2_Silent_p.F696F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	696					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTCCTGGTGGAACACAGGGG	0.577000														9			9		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:158256915C>T	uc003ipm.4	+	9	1818	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_uc011cit.2_Silent_p.I406I|GRIA2_uc003ipl.4_Silent_p.I453I|GRIA2_uc003ipk.4_Silent_p.I406I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	453					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGCAGAAATCGCCAAACATT	0.443000														33			17		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545020	60545020	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:60545020G>T	uc001vht.3	-	15	2144	c.1925C>A	c.(1924-1926)cCt>cAt	p.P642H	DIAPH3_uc001vhu.3_Missense_Mutation_p.P379H|DIAPH3_uc001vhv.3_Missense_Mutation_p.P220H	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	642	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTGATTTCAGGTTTAAATTC	0.358000														38			28		2.48779e-11	2.50726e-11	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814526	106814526	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:106814526G>A	uc003ymd.3	+	7	2239	c.2216G>A	c.(2215-2217)aGa>aAa	p.R739K	ZFPM2_uc011lhs.2_Missense_Mutation_p.R470K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	739					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CGCAAGCGCAGAAAGATGTAT	0.507000														29			17		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436422	72436422	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:72436422C>T	uc002jkp.3	+	1	1153	c.642C>T	c.(640-642)atC>atT	p.I214I	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.I181I|GPRC5C_uc002jkt.3_Silent_p.I169I|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	169						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TAGAGGTCATCATCAATACAG	0.647000														26			29		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261958	44261958	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:44261958C>T	uc010xcy.1	-	6	1315	c.747G>A	c.(745-747)gtG>gtA	p.V249V	ST8SIA5_uc002lci.1_Silent_p.V60V|ST8SIA5_uc002lcj.1_Silent_p.V213V|ST8SIA5_uc010xcz.1_Silent_p.V182V	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	213					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGCTGGGGTTCACAGTGACCA	0.547000														13			24		0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285871	50285871	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50285871C>T	uc002ppn.3	+	3	574	c.363C>T	c.(361-363)gcC>gcT	p.A121A	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Silent_p.A121A	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	121					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGACCTGGCCAGCCGCAACC	0.617000														23			10		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018287	161018287	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161018287C>T	uc001fxl.3	-	11	2870	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D688N|ARHGAP30_uc009wtx.3_Missense_Mutation_p.D515N	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	842	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTCTCCATCCCCACTCTCC	0.557000														131			62		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158487540	158487540	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:158487540C>T	uc003qqx.2	+	11	1696	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.I530I|SYNJ2_uc003qqy.2_Silent_p.I293I|SYNJ2_uc011efn.1_Silent_p.I458I|SYNJ2_uc010kjo.1_Silent_p.I479I|SYNJ2_uc003qqz.2_Silent_p.I147I	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	530							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.I530I(2)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCAAGCGGATCCGGATTGCTA	0.547000														54			54		0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	983005	983005	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:983005C>T	uc003gcb.3	-	3	2100	c.1722G>A	c.(1720-1722)aaG>aaA	p.K574K	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Silent_p.K574K	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	574	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCCCCCCTCCTTCCTCCTGG	0.692000														17			14		0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90967748	90967748	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:90967748G>A	uc003yej.1	-	9	1270	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	NBN_uc011lgb.1_Missense_Mutation_p.S387F|NBN_uc003yei.1_Missense_Mutation_p.S305F	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	387					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCCATTTTGGAGACTTTGAT	0.328000								Homologous recombination						24			22		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169394075	169394075	+	Missense_Mutation	SNP	C	T	T	rs144603502		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:169394075C>T	uc001gga.1	-	1	259	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	C1orf114_uc001gfz.1_Missense_Mutation_p.E31K|C1orf114_uc009wvq.1_Missense_Mutation_p.E31K|C1orf114_uc001ggb.3_Missense_Mutation_p.E31K|C1orf114_uc001ggc.1_Missense_Mutation_p.E31K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	31										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCACTTTTTTCATTTTCATTA	0.289000														46			48		0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55887307	55887307	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:55887307G>A	uc002rzf.2	-	14	1322	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	423					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTGCAGCATGAAATTTTTAT	0.284000														11			10		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694139	84694139	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:84694139G>A	uc002bjz.4	+	26	4831	c.4607G>A	c.(4606-4608)aGa>aAa	p.R1536K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R1536K	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1536	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCTGGGAAGAAAACCATGT	0.512000														26			21		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013768	75013768	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:75013768G>A	uc002ayp.4	-	3	1151	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CYP1A1_uc010bjy.3_Silent_p.I343I|CYP1A1_uc010bju.3_Silent_p.I79I|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Silent_p.I79I|CYP1A1_uc002ayq.4_Silent_p.I343I|CYP1A1_uc010bjz.1_Silent_p.I79I	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	343					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCTCCTCTTGGATCTTTCTCT	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					48			30		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100085888	100085888	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100085888C>T	uc003uvd.1	+	3	703	c.544C>T	c.(544-546)Cca>Tca	p.P182S	NYAP1_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	182																	GTCCTGCCCCCCAGGCCCCTC	0.657000														69			56		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520934	175520934	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:175520934G>A	uc003fit.3	+	13	2418	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	777					proteolysis	integral to membrane	peptidase activity	p.Q777H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATTCAGCTCAGGTTTACTTCA	0.403000														29			22		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802629	233802629	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:233802629C>T	uc010pxo.1	+	1	812	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	215						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TTCCTGGAATCCTTTTATTTT	0.488000														81			30		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145039	56145039	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:56145039C>T	uc002rzi.3	-	4	779	c.278G>A	c.(277-279)gGa>gAa	p.G93E	EFEMP1_uc002rzj.3_Missense_Mutation_p.G93E|EFEMP1_uc010ypc.2_Missense_Mutation_p.G35E	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	93					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCCTGAGGTTCCTTCTGCTGG	0.547000														71			50		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106341	168106341	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168106341G>A	uc002udx.3	+	8	8528	c.8439G>A	c.(8437-8439)ggG>ggA	p.G2813G	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.G2638G|XIRP2_uc010fpq.3_Silent_p.G2591G|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2638					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGACAGAGGGAAACTTCCAG	0.393000														57			38		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111615997	111615997	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:111615997G>A	uc003kpv.1	-	2	502	c.228C>T	c.(226-228)acC>acT	p.T76T	EPB41L4A_uc003kpw.1_Silent_p.T76T	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	76	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTTCAGCAAGGGTTTTTGCAG	0.358000														196			26		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749181	22749181	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:22749181C>T	uc003gqp.4	+	2	640	c.549C>T	c.(547-549)atC>atT	p.I183I	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Silent_p.I184I	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	183					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCCGGGTATCCCTCACTTTG	0.433000														81			52		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694231	67694231	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:67694231G>A	uc002etq.4	-	0	488	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ACD_uc002etp.4_Missense_Mutation_p.L51F|ACD_uc002etr.4_Missense_Mutation_p.L51F|ACD_uc010vjt.1_Missense_Mutation_p.L41F|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCGGAGGAGGAGGCCCCGC	0.741000														20			10		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165175151	165175151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:165175151C>T	uc001gcz.2	-	7	1132	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	LMX1A_uc021pdz.1_Missense_Mutation_p.R313Q|LMX1A_uc021pdy.1_Missense_Mutation_p.R64Q|LMX1A_uc001gcw.2_Missense_Mutation_p.R31Q	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	313						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GAGACCCTGTCGGAAGGGATC	0.582000														89			33		0	0	1	0	0
LOC284100	284100	broad.mit.edu	37	17	36214821	36214821	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36214821C>T	uc002hom.1	-	1		c.138G>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.											endometrium(6)|kidney(1)	7						AGAACATCGCCGCAGATTAAC	0.353000														7			16		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862351	14862351	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:14862351C>T	uc003bzc.3	+	0	1883	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	FGD5_uc011avk.2_Silent_p.S591S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	591					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TAATTGGCTCCTCTGGGAGTT	0.557000														37			26		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661314	4661314	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4661314C>T	uc010qyk.2	+	0	370	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCTTTTCCTGATGGGCA	0.542000														44			35		0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47918471	47918471	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:47918471C>T	uc002let.3	+	6	806	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	SKA1_uc002leu.3_Missense_Mutation_p.R208C|SKA1_uc010xdl.2_Missense_Mutation_p.R162C	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	208					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATTTTTAGGTCGTTATTTTAT	0.328000														68			23		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5323061	5323061	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5323061C>T	uc010qza.2	-	0	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGCCATTTCCAAAAAGGAC	0.507000														64			36		0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9825779	9825779	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:9825779G>A	uc003bsx.1	-	7	1587	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	TADA3_uc010hcn.1_Missense_Mutation_p.R347C|TADA3_uc003bsy.3_Missense_Mutation_p.R347C|TADA3_uc003bsw.1_Missense_Mutation_p.R176C	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	347					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TGCCGTTTGCGAAGCTCAGCA	0.612000														20			12		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816268	6816268	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6816268C>T	uc001mes.1	-	0	872	c.672G>A	c.(670-672)gtG>gtA	p.V224V		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTAATGGCCACATAGGAGG	0.488000														112			46		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323225	29323225	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:29323225G>A	uc011dlo.2	-	0	830	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCATAAAAGAGAAAGACAATG	0.448000														138			48		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587196	15587196	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15587196C>T	uc002nbg.3	-	1	418	c.285G>A	c.(283-285)aaG>aaA	p.K95K	PGLYRP2_uc002nbf.4_Silent_p.K95K	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	95					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGGCCACCTCCTTGGTCAGGC	0.617000														55			42		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638882	55638882	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55638882G>A	uc003pcq.3	-	3	1704	c.992C>T	c.(991-993)tCt>tTt	p.S331F	BMP5_uc011dxf.2_Missense_Mutation_p.S331F	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	331					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCCTGATGAGAGCTGGATTT	0.468000														119			41		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932456	39932456	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:39932456T>A	uc004den.4	-	3	2435	c.2143A>T	c.(2143-2145)Acc>Tcc	p.T715S	BCOR_uc004dep.4_Missense_Mutation_p.T715S|BCOR_uc004deo.4_Missense_Mutation_p.T715S|BCOR_uc004dem.4_Missense_Mutation_p.T715S|BCOR_uc004deq.4_Missense_Mutation_p.T715S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	715					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCTTGGTAGGTCACAAACTCT	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							7			34		0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128585919	128585919	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128585919G>A	uc003voh.3	+	2	337	c.216G>A	c.(214-216)ggG>ggA	p.G72G	IRF5_uc010llr.1_Silent_p.G72G|IRF5_uc011kot.1_Silent_p.G72G|IRF5_uc011kou.1_Silent_p.G72G|IRF5_uc010lls.1_Silent_p.G72G|IRF5_uc003vog.3_Silent_p.G72G|IRF5_uc010llt.3_Silent_p.G72G|IRF5_uc003voi.3_Silent_p.G72G|IRF5_uc010llu.1_Silent_p.G72G|IRF5_uc003vok.2_Silent_p.G72G|IRF5_uc003voj.4_Silent_p.G72G|IRF5_uc010llv.1_Silent_p.G72G|IRF5_uc010llw.1_Silent_p.G72G	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	72					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGGAGACAGGGAAATACACCG	0.607000														28			14		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254427	98254427	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:98254427C>T	uc003upl.2	+	2	1014	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	279	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCAACGAGATCGTGCTGATCG	0.637000														65			43		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135371687	135371687	+	Silent	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:135371687G>T	uc001lno.2	-	4	408	c.303C>A	c.(301-303)atC>atA	p.I101I	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Silent_p.I101I|SYCE1_uc001lnn.2_Silent_p.I65I	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	101					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTTGCTCAAGATCTCCTTCA	0.517000														32			21		8.10497e-08	8.14109e-08	1	1	0
AEBP1	165	broad.mit.edu	37	7	44148712	44148712	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:44148712C>T	uc003tkb.3	+	7	1330	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	AEBP1_uc003tkc.4_5'Flank|AEBP1_uc022aci.1_5'Flank|AEBP1_uc003tkd.3_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	342					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAGAAACCCAAAAAGGAG	0.627000														18			14		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184525	72184525	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:72184525G>A	uc002fcc.4	-	4	790	c.618C>T	c.(616-618)ctC>ctT	p.L206L	PMFBP1_uc002fcd.3_Silent_p.L206L|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.L61L	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	206										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGATCCCGCCGAGTTCCCCCT	0.527000														111			82		0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3765347	3765347	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:3765347A>G	uc002wjk.3	-	0	1991	c.1784T>C	c.(1783-1785)cTt>cCt	p.L595P	CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.	595					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TTGATGTCCAAGACCTCGAAC	0.597000														43			27		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604858	58604858	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58604858C>T	uc001nnd.4	-	3	330	c.199G>A	c.(199-201)Gac>Aac	p.D67N	GLYATL2_uc009ymq.3_Missense_Mutation_p.D67N	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	67						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGATCCTGGTCATCTTTCATC	0.368000														50			32		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762175	130762175	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:130762175C>T	uc003qcb.3	+	1	2986	c.608C>T	c.(607-609)tCg>tTg	p.S203L	TMEM200A_uc003qca.3_Missense_Mutation_p.S203L|TMEM200A_uc010kfh.3_Missense_Mutation_p.S203L|TMEM200A_uc010kfi.3_Missense_Mutation_p.S203L|TMEM200A_uc021zfg.1_Missense_Mutation_p.S203L	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	203						integral to membrane		p.A202S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCTGTGCCTCGAGATTGGCA	0.463000														40			25		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335708	115335708	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:115335708G>A	uc001lai.4	+	3	379	c.276G>A	c.(274-276)ggG>ggA	p.G92G	HABP2_uc021pyr.1_Silent_p.G66G|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.G81E	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	92	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCGTCCATGGGAGCACCTTCA	0.527000														85			55		0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	428547	428547	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:428547G>A	uc002wds.3	-	1	380	c.242C>T	c.(241-243)cCa>cTa	p.P81L	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_5'UTR	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	81	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TATAGGAGGTGGGTCATTGGC	0.507000														35			32		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543396	4543396	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:4543396G>A	uc001qmr.1	-	2	656	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	204					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	p.H203N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCTGGGAAGGAAATGAGTGA	0.498000														36			43		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47418065	47418065	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:47418065G>A	uc002zhu.1	+	22	1657	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	519	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AAATGGCACCGAGGGCTTCCC	0.667000														9			9		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57329149	57329149	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:57329149C>T	uc002qnu.2	-	5	1178	c.827G>A	c.(826-828)aGa>aAa	p.R276K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Missense_Mutation_p.R276K|PEG3_uc002qnw.2_Missense_Mutation_p.R152K|PEG3_uc002qnx.2_Missense_Mutation_p.R150K|PEG3_uc010etr.2_Missense_Mutation_p.R276K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	276					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTCTTGGATCTTGATGAGTG	0.517000														16			13		0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136082624	136082624	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:136082624C>T	uc004ccz.3	-	3	419	c.377G>A	c.(376-378)gGa>gAa	p.G126E	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Missense_Mutation_p.G58E	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	126					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CACAAGCTTTCCCATGTGGAG	0.622000														22			17		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137779082	137779082	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:137779082G>A	uc004cfg.1	+	7	773	c.763G>A	c.(763-765)Gga>Aga	p.G255R	FCN2_uc004cfh.1_Missense_Mutation_p.G217R	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	255	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCTTAACACCGGAAATTGTGC	0.498000														53			52		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397839	110397839	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110397839G>A	uc003yne.3	+	5	653	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	183	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTCAAATGGGAAAAATGTTA	0.299000										HNSCC(38;0.096)				23			14		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150090	20150090	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20150090G>A	uc002wru.3	+	12	1485	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	C20orf26_uc010zse.2_Silent_p.R437R|C20orf26_uc010zsf.1_Silent_p.R457R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	457										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTTCCACCGGGCTGGATTGC	0.483000														51			23		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2577881	2577881	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:2577881G>A	uc003smi.3	-	13	2576	c.2288C>T	c.(2287-2289)cCc>cTc	p.P763L	BRAT1_uc003smh.4_Missense_Mutation_p.P195L	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	763					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GTCCCCTGGGGGCTGGGCCTG	0.706000														24			13		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403740	54403740	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:54403740G>A	uc003jpm.3	+	2	371	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	112	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGCCACACGCGAAGGTGACCT	0.438000														61			46		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71212852	71212852	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71212852C>T	uc002ezr.3	-	3	511	c.360G>A	c.(358-360)ctG>ctA	p.L120L	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Silent_p.L120L|HYDIN_uc010vmc.2_Silent_p.L137L|HYDIN_uc010vmd.2_Silent_p.L147L|HYDIN_uc002ezw.4_Silent_p.L137L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	120										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCAAAATCAGTGGAACTT	0.398000														72			54		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61868730	61868730	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61868730G>A	uc001jky.3	-	26	3369	c.3031C>T	c.(3031-3033)Cca>Tca	p.P1011S	ANK3_uc001jkw.3_Missense_Mutation_p.P145S|ANK3_uc009xpa.3_Missense_Mutation_p.P145S|ANK3_uc001jkx.3_Missense_Mutation_p.P189S|ANK3_uc010qih.2_Missense_Mutation_p.P1012S|ANK3_uc001jkz.4_Missense_Mutation_p.P1005S|ANK3_uc001jla.1_Missense_Mutation_p.P77S|ANK3_uc001jlb.1_Missense_Mutation_p.P529S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1011	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACTTGCGTGGAGGAATGATG	0.552000														44			22		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252553	46252553	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:46252553C>T	uc011bzc.1	-	9	1555	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	GABRA2_uc003gxc.3_Silent_p.P376P|GABRA2_uc010igc.2_Silent_p.P376P			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	389					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGAAAGATTCGGGGCATAAT	0.413000														96			72		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669613	49669613	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:49669613G>A	uc002efs.3	-	4	3748	c.3450C>T	c.(3448-3450)acC>acT	p.T1150T	ZNF423_uc010vgn.2_Silent_p.T1033T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1150					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)				GGGGCCCACTGGTCTCCGGCG	0.652000														56			34		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121489550	121489550	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:121489550C>T	uc001pxx.3	+	41	5801	c.5672C>T	c.(5671-5673)tCa>tTa	p.S1891L	SORL1_uc010rzp.1_Missense_Mutation_p.S737L|SORL1_uc010rzq.1_Missense_Mutation_p.S506L	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1891	Fibronectin type-III 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGACTACTTCACTCCACAAC	0.423000														145			101		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20991137	20991137	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:20991137G>A	uc001bdr.4	-	14	3148	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	KIF17_uc001bdp.4_Silent_p.I287I|KIF17_uc009vpx.3_Silent_p.I380I|KIF17_uc001bds.4_Silent_p.I1009I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	1010					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.I1010I(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGTGAAAGGGATGTCGAGGG	0.587000														13			35		0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118949307	118949307	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:118949307C>T	uc010ryx.2	+	12	1992	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S	VPS11_uc010ryy.2_Silent_p.S498S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	652					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGGCCATTTCCCTGCTGAAGA	0.542000														26			17		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321856	55321856	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55321856C>T	uc010rig.2	+	0	74	c.74C>T	c.(73-75)cCa>cTa	p.P25L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ACTATGATACCACAAATTGAT	0.343000										HNSCC(20;0.049)				72			57		0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69237976	69237976	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:69237976C>T	uc002arn.2	+	1	257	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	35					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AAACTTGAATCATTATATACA	0.338000														62			42		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39507906	39507906	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:39507906G>A	uc003oot.2	-	12	1613	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Silent_p.S297S|KIF6_uc011dua.1_Silent_p.S506S|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	506					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTGGGCTCTGGGACTGTCTGA	0.483000														213			81		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726580	63726580	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:63726580G>A	uc003tsx.3	+	4	838	c.569G>A	c.(568-570)gGc>gAc	p.G190D		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	190					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						AAAAAATATGGCAAATCATTT	0.348000														13			6		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584921	7584921	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:7584921G>A	uc003mxp.1	+	23	7705	c.7426G>A	c.(7426-7428)Gaa>Aaa	p.E2476K	DSP_uc003mxq.1_Missense_Mutation_p.E1877K|DSP_uc021yle.1_Missense_Mutation_p.E2033K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2476	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACCAATAAAGAAATGTCTGT	0.418000														131			48		0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44180665	44180665	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:44180665C>T	uc003tkg.3	-	1	24	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_021223	NP_067046	Q01449	MLRA_HUMAN	Homo sapiens myosin, light chain 7, regulatory (MYL7), mRNA.	4					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCCCCGCCTTCCTGCTGGCCT	0.597000														30			26		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35184638	35184638	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:35184638G>A	uc003teq.1	-	8	1252	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		AATTGCCAGGGAAGCATAAAA	0.353000														31			17		0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133451705	133451706	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:133451705_133451706CC>TT	uc003kyt.3	+	2	618_619	c.422_423CC>TT	c.(421-423)ccc>cTT	p.P141L	TCF7_uc003kyv.3_Missense_Mutation_p.P26L|TCF7_uc003kyw.3_Missense_Mutation_p.P26L|TCF7_uc003kyu.2_Missense_Mutation_p.P26L|TCF7_uc003kyy.3_Missense_Mutation_p.P26L|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Missense_Mutation_p.P26L|TCF7_uc003kza.3_Missense_Mutation_p.P26L	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	141					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding	p.H140P(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCAGCACCCCCAGCCGCAGC	0.649000														13			6		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413951	22413951	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22413951A>T	uc001yuf.3	+	0	490	c.250A>T	c.(250-252)Atc>Ttc	p.I84F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GGTCCTCATCATCCGCTTGCC	0.507000														177			8		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27447261	27447261	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:27447261C>T	uc002rji.3	+	8	1319	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	CAD_uc010eyw.3_Missense_Mutation_p.P386L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	386	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATTCCCACTCCCGGCTCTGGA	0.577000														51			38		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472554	77472554	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:77472554G>A	uc021sqy.1	-	4	2291	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	PEAK1_uc002bcn.2_Missense_Mutation_p.S572L|PEAK1_uc021sqz.1_5'UTR	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	572					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGCTGTGGGTGATGTAGGTGC	0.383000														141			122		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504428	16504428	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:16504428G>A	uc003goz.3	-	7	1276	c.960C>T	c.(958-960)atC>atT	p.I320I	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Silent_p.I292I|LDB2_uc003gpb.3_Silent_p.I318I|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	320	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTAATCTAGTGATTAGCCTTT	0.517000														112			77		0	0	1	0	0
WRNIP1	56897	broad.mit.edu	37	6	2779649	2779649	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:2779649C>T	uc003mtz.3	+	3	1600	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	WRNIP1_uc003mua.3_Missense_Mutation_p.S445F	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	470					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CAATCCTATTCTCCCAGTAGA	0.517000														55			19		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670427	158670427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158670427G>A	uc001fsu.1	-	0	16	c.16C>T	c.(16-18)Cga>Tga	p.R6*		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	6			R -> Q (in dbSNP:rs413029).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N5K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGGTGGTTCGATTGGGGCTC	0.428000														60			80		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298269	4298269	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:4298269C>T	uc002lzx.2	-	1	166	c.120G>A	c.(118-120)gcG>gcA	p.A40A	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Silent_p.A40A	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	40	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCAGGGTCGCCTGACTGC	0.622000														11			14		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44482443	44482443	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:44482443G>A	uc002zcu.2	-	10	1262	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	CBS_uc002zcs.1_Silent_p.I234I|CBS_uc002zct.2_Silent_p.I339I|CBS_uc002zcw.3_Silent_p.I339I|CBS_uc002zcv.2_Silent_p.I339I	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	339					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCTCTTGCGCGATCAGCATGC	0.667000														14			6		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56241343	56241343	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56241343G>A	uc002qly.3	-	2	1876	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	616						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCAGTAGACGAGCTTCTCAT	0.423000														37			26		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760619	120760619	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:120760619G>A	uc003eec.4	+	3	500	c.360G>A	c.(358-360)ttG>ttA	p.L120L	STXBP5L_uc011bji.2_Silent_p.L120L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	120					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L120V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCAATTTTTGATCAATGAGG	0.358000														23			18		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627970	37627970	+	Missense_Mutation	SNP	C	T	T	rs146621695		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:37627970C>T	uc010cvv.3	+	1	2471	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	CDK12_uc010wef.1_Missense_Mutation_p.P628S|CDK12_uc002hrw.4_Missense_Mutation_p.P629S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	629					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACGTTGCCTCCTTTGCCCCT	0.448000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				90			76		0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77018808	77018808	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77018808G>A	uc003hjo.3	+	3	927	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	ART3_uc003hjk.3_Missense_Mutation_p.E265K|ART3_uc010ija.2_Missense_Mutation_p.E265K|ART3_uc003hjn.3_Missense_Mutation_p.E265K|ART3_uc003hjp.3_Non-coding_Transcript|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.E235K|ART3_uc010ijc.3_Intron|ART3_uc010ijd.3_Missense_Mutation_p.E235K	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	265					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTAAAAACCGAAAACTGTAT	0.328000														70			35		0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55282936	55282936	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:55282936C>T	uc002lgs.2	-	3	507	c.279G>A	c.(277-279)aaG>aaA	p.K93K	NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_Non-coding_Transcript|NARS_uc010xec.2_Silent_p.K93K|NARS_uc010xed.2_Silent_p.K60K	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	93					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CTTCCAGGTTCTTTTCTCTTC	0.368000														53			83		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402363	197402363	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:197402363G>A	uc003fyc.2	-	18	2853	c.2670C>T	c.(2668-2670)atC>atT	p.I890I	KIAA0226_uc003fyd.3_Silent_p.I845I|KIAA0226_uc021xjw.1_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	890	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGAACTCACAGATGAAGCCTT	0.547000														99			74		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549917	167549917	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:167549917G>A	uc003qvl.3	+	12	2675	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	CCR6_uc010kkm.3_Missense_Mutation_p.V67M|CCR6_uc003qvn.4_Missense_Mutation_p.V67M|CCR6_uc003qvm.4_Missense_Mutation_p.V67M	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	67					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	p.V67L(2)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GAATATTCTGGTGGTGATCAC	0.478000														55			53		0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23432486	23432486	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:23432486C>T	uc002wtf.1	-	1	334	c.300G>A	c.(298-300)acG>acA	p.T100T	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	100					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.T100T(2)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGACACAGTTCGTGGTCTCTG	0.522000														43			24		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10777375	10777375	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:10777375G>A	uc001qys.2	-	7	1322	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	267	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTAATCCACAGAGCTTAGCAG	0.488000										HNSCC(73;0.22)				96			83		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754838	49754838	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754838C>T	uc003ozu.3	-	0	216	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	21					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTCTACTCTCATGATGACTC	0.423000														108			43		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984768	64984769	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:64984768_64984769CC>TT	uc002eoi.3	-	11	2229_2230	c.1795_1796GG>AA	c.(1795-1797)ggg>AAg	p.G599K	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.G599K|CDH11_uc010vin.2_Missense_Mutation_p.G473K	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	599	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G599R(2)|p.N598N(1)		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)		GAGCAGTGCCCCGTTCACGTCG	0.609000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				34			26		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710317	52710317	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:52710317C>G	uc001saf.2	-	5	1039	c.976G>C	c.(976-978)Gag>Cag	p.E326Q		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	326	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGTTGATCTCCTCCTTGGTG	0.597000														35			17		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120319046	120319046	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:120319046C>A	uc001pxl.2	+	19	2061	c.1726C>A	c.(1726-1728)Ccc>Acc	p.P576T	ARHGEF12_uc009zat.3_Missense_Mutation_p.P557T|ARHGEF12_uc010rzn.1_Missense_Mutation_p.P473T|ARHGEF12_uc009zau.1_Missense_Mutation_p.P473T|ARHGEF12_uc021qrm.1_Missense_Mutation_p.P557T	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	576					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGGATTTCTTCCCAAAATCAA	0.383000			T	MLL	AML									20			15		1.3612e-06	1.36575e-06	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962748	34962748	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:34962748C>T	uc004ddi.2	+	0	1836	c.1800C>T	c.(1798-1800)ggC>ggT	p.G600G		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	600										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						TAAGCAAGGGCTACAGAATGC	0.448000														20			135		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615103	158615103	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158615103C>T	uc001fst.1	-	28	4268	c.4069G>A	c.(4069-4071)Gac>Aac	p.D1357N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1357					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)					TGCCCACTGTCGATAAGTTCT	0.493000														104			47		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119168174	119168174	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:119168174C>T	uc001pwe.3	+	13	2372	c.2234C>T	c.(2233-2235)aCc>aTc	p.T745I		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	745	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCATCTATCACCGAGAGCAGC	0.408000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					39			17		0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150110993	150110993	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:150110993G>A	uc010jhi.3	-	6	719	c.617C>T	c.(616-618)aCc>aTc	p.T206I	DCTN4_uc003lsu.3_Missense_Mutation_p.T142I|DCTN4_uc003lsv.3_Missense_Mutation_p.T199I|DCTN4_uc010jhj.2_Non-coding_Transcript|DCTN4_uc011dck.1_Missense_Mutation_p.T142I	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	199						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGGCAAGGGTACTGATGGA	0.393000														20			14		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81224305	81224305	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:81224305G>A	uc002fgh.1	-	8	1636	c.1636C>T	c.(1636-1638)Caa>Taa	p.Q546*	PKD1L2_uc002fgj.3_Nonsense_Mutation_p.Q546*	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	546	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATGGTTCTTGGAGACCGGAA	0.428000														72			48		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47809287	47809287	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:47809287C>T	uc002zji.4	+	18	3888	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*	PCNT_uc002zjj.3_Nonsense_Mutation_p.Q1143*	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1261					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGGGTCTTCCAGAGCCTCAG	0.607000														60			44		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39994485	39994485	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:39994485G>A	uc001rmb.2	-	5	1960	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	512	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.P512S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAACCATTGGGACCAGTTATC	0.363000														58			41		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8375977	8375977	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:8375977G>A	uc003zkk.3	-	38	5363	c.4620C>T	c.(4618-4620)acC>acT	p.T1540T	PTPRD_uc003zkp.3_Silent_p.T1134T|PTPRD_uc003zkq.3_Silent_p.T1133T|PTPRD_uc003zkr.3_Silent_p.T1124T|PTPRD_uc003zks.3_Silent_p.T1133T|PTPRD_uc022bdj.1_Silent_p.T1130T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1540	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGGTTACAGGTTTTGACTC	0.473000										TSP Lung(15;0.13)				4			32		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025132	130025132	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:130025132C>T	uc003vpx.3	+	7	1005	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CPA1_uc003vpw.2_Silent_p.L145L	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	311					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q310H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTCCCAGCTCCTCATGTATC	0.537000														48			31		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733018	164733018	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:164733018G>A	uc003fei.3	-	32	3955	c.3892C>T	c.(3892-3894)Cca>Tca	p.P1298S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1298	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	GAAATTGCTGGATCCTAAAAT	0.333000										HNSCC(35;0.089)				32			22		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782954	32782954	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32782954C>T	uc011dqf.1	-	12	2171	c.2049G>A	c.(2047-2049)ttG>ttA	p.L683L	TAP2_uc003oca.3_Silent_p.L76L|TAP2_uc011dqg.1_Silent_p.L76L	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										CCAGCTTGGTCAATGCCACAA	0.522000														87			38		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082472	12082472	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:12082472C>T	uc001ato.2	+	2	828	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	145										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAGGTCCATCCTGGCTCAAC	0.617000														4			9		0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140057276	140057276	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140057276G>A	uc003lgv.3	-	6	775	c.693C>T	c.(691-693)ttC>ttT	p.F231F	HARS_uc003lgu.3_Silent_p.F162F|HARS_uc011czm.2_Silent_p.F191F|HARS_uc003lgw.3_Silent_p.F211F|HARS_uc011czn.2_Silent_p.F171F|HARS_uc011czo.2_Silent_p.F157F|HARS_uc011czp.2_Silent_p.F117F|HARS_uc011czq.2_Silent_p.F121F	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	231					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGATGGTACGGAACTTGCTGT	0.473000														89			64		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:161116303C>T	uc003lyu.2	+	4	828	c.490C>T	c.(490-492)Cct>Tct	p.P164S	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)				52			32		0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650469	55650469	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:55650469C>T	uc004duo.3	+	0	637	c.325C>T	c.(325-327)Cct>Tct	p.P109S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	109					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|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	p.S108F(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAACATTTCTCCTTTCCCTCA	0.532000														19			4		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022146	14022146	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:14022146G>A	uc003wwq.3	-	4	1150	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	SGCZ_uc010lss.3_Silent_p.L117L	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	151					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCAGAAAACAGCACCCTGCCA	0.408000														39			26		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22820411	22820411	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:22820411G>A	uc003gqp.4	+	4	1366	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	GBA3_uc010iep.3_Nonsense_Mutation_p.W118*|GBA3_uc011bxo.2_Nonsense_Mutation_p.W426*	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	425	Substrate binding (By similarity).				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTTTGAGTGGAACCAGGGAT	0.408000														21			18		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113764255	113764255	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:113764255G>A	uc010yxr.2	+	2	205	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	69					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GGGCCTGAATGGACTCAATCT	0.502000														129			91		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722057	39722057	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:39722057C>T	uc001wux.3	+	4	1867	c.1673C>T	c.(1672-1674)aCc>aTc	p.T558I		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCAGTAGACACCGAAGGGCCT	0.383000														39			31		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43831670	43831670	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43831670C>T	uc001zrw.3	-	29	3701	c.3497G>A	c.(3496-3498)tGg>tAg	p.W1166*	PPIP5K1_uc021sjw.1_Nonsense_Mutation_p.W1141*|PPIP5K1_uc001zrx.2_Nonsense_Mutation_p.W1099*|PPIP5K1_uc001zry.4_Nonsense_Mutation_p.W1141*|PPIP5K1_uc021sjx.1_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1166					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TTACTTACACCAAGGGGGCTT	0.517000														5			6		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936693	4936693	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4936693G>A	uc001lzr.1	-	0	201	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGGACAGGAAGAGATACA	0.478000														31			26		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019630	111019630	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:111019630C>T	uc004epl.1	-	10	3752	c.2833G>A	c.(2833-2835)Gat>Aat	p.D945N		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	945					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						TCAAATACATCCTCTGAGGAG	0.483000														7			30		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243162	43243162	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43243162C>T	uc002oue.3	-	1	276	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	48	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.G48W(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAACGTCCTTCCCCTTGGAAA	0.463000														160			137		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288886	77288886	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77288886G>A	uc003hkb.4	-	10	1544	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	464										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCAAGGAGGATACTTTTTC	0.413000														18			22		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371746	55371746	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55371746C>T	uc010rii.2	-	0	129	c.104G>A	c.(103-105)gGa>gAa	p.G35E		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CACCACAGTTCCCATATAGAA	0.393000														55			45		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447351	22447351	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22447351C>T	uc010tmm.2	+	1	524	c.332C>T	c.(331-333)gCt>gTt	p.A111V	TRA_uc021rpa.1_Silent_p.L111L|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		TACTTCTGTGCTGTGAGTGAC	0.483000														40			28		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783736	9783736	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:9783736G>A	uc003gmb.4	+	0	479	c.83G>A	c.(82-84)gGg>gAg	p.G28E		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	28					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACGCCGTGGGGGGCTCGGCG	0.697000														2			3		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413803	22413803	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22413803C>T	uc001yuf.3	+	0	342	c.102C>T	c.(100-102)ctC>ctT	p.L34L	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		AGGGATTACTCCTTGTTGTGA	0.493000														116			71		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883833	110883833	+	Silent	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:110883833T>A	uc001dzl.1	+	0	1889	c.1806T>A	c.(1804-1806)gcT>gcA	p.A602A	RBM15_uc001dzm.1_Silent_p.A602A|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Silent_p.A602A	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	602					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGACTGCAGCTACTTCTGTGC	0.577000			T	MKL1	acute megakaryocytic leukemia									28			45		0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23546328	23546328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:23546328C>T	uc002dlu.3	-	3	871	c.839G>A	c.(838-840)aGg>aAg	p.R280K	EARS2_uc002dlr.4_Non-coding_Transcript|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Missense_Mutation_p.R280K	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	280					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GCTGCCATCCCTGTTGAGGAG	0.612000														16			13		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169985288	169985288	+	Missense_Mutation	SNP	G	A	A	rs142430940		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:169985288G>A	uc002ues.3	-	78	14066	c.13853C>T	c.(13852-13854)tCg>tTg	p.S4618L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4618					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCAGGGAGCGAAGGTGATGG	0.453000														71			51		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535179	96535179	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96535179G>A	uc010qnz.2	+	2	364	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.E100K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	122			E -> A (in dbSNP:rs17885179).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATGGAAGGAGATCCGGCG	0.527000														65			57		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786416	121786416	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:121786416G>A	uc003ksw.1	+	9	2080	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	SNCAIP_uc011cwl.1_Missense_Mutation_p.G183E|SNCAIP_uc003ksy.1_Missense_Mutation_p.G259E|SNCAIP_uc003ksx.1_Missense_Mutation_p.G672E|SNCAIP_uc003ksz.1_Missense_Mutation_p.G259E|SNCAIP_uc010jcu.2_Missense_Mutation_p.G221E|SNCAIP_uc011cwm.1_Missense_Mutation_p.G259E|SNCAIP_uc003kta.1_Missense_Mutation_p.G257E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G319E|SNCAIP_uc010jcx.1_Missense_Mutation_p.G565E|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.G141E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	625					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTTATTGGGAAAGGAAATC	0.458000														46			35		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767036	77767036	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77767036G>A	uc003yau.2	+	9	8266	c.7879G>A	c.(7879-7881)Gat>Aat	p.D2627N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2582N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2582						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATACTTGCTGGATTCCAATCC	0.483000										HNSCC(33;0.089)				25			24		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949304	7949304	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:7949304C>T	uc010rbh.2	-	0	906	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L301*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCATAATTTCATCAAAGCCC	0.383000														53			44		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154672601	154672601	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:154672601G>A	uc003wlk.3	+	20	2211	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	DPP6_uc003wli.3_Silent_p.T630T|DPP6_uc003wlm.3_Silent_p.T632T|DPP6_uc011kvq.2_Silent_p.T587T	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	694					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.L693F(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCACAGGACGATGCTGAAGG	0.562000														35			23		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973135	121973135	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121973135C>T	uc003eew.4	+	1	537	c.99C>T	c.(97-99)atC>atT	p.I33I	CASR_uc003eev.4_Silent_p.I33I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	33					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I33I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGACATTATCCTTGGGGGGC	0.522000														52			59		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245731	41245731	+	Missense_Mutation	SNP	G	A	A	rs80359886		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:41245731G>A	uc002icq.3	-	9	2049	c.1817C>T	c.(1816-1818)cCt>cTt	p.P606L	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P535L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P559L|BRCA1_uc002ict.3_Missense_Mutation_p.P606L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P606L|BRCA1_uc002ide.1_Missense_Mutation_p.P437L|BRCA1_uc010cyy.1_Missense_Mutation_p.P606L|BRCA1_uc010whs.1_Missense_Mutation_p.P606L|BRCA1_uc010cyz.2_Missense_Mutation_p.P559L|BRCA1_uc010cza.2_Missense_Mutation_p.P580L|BRCA1_uc010wht.1_Missense_Mutation_p.P310L	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	606					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|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|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 DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|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	RNA binding|androgen receptor binding|identical protein binding|protein 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)		ATTCTTTTTAGGTGCTTTTGA	0.378000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				66			37		0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587034	37587034	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:37587034G>A	uc004ddq.3	+	2	736	c.654G>A	c.(652-654)gaG>gaA	p.E218E		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	218					amino acid transport	integral to membrane	protein binding|transporter activity	p.E218K(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GGAGCTTTGAGATTGCCACTC	0.463000														2			27		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973664	10973664	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:10973664G>A	uc003jfa.1	-	21	3724	c.3579C>T	c.(3577-3579)tcC>tcT	p.S1193S	CTNND2_uc010itt.2_Silent_p.S1102S|CTNND2_uc011cmy.1_Silent_p.S856S|CTNND2_uc011cmz.1_Silent_p.S760S|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.S785S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1193					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGTTGCCGGTGGACTTGAGAC	0.562000														45			24		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843819	16843819	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:16843819G>A	uc002gqs.1	-	3	465	c.452C>T	c.(451-453)cCg>cTg	p.P151L	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P105L	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	151					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTTCAGCCCCGGGAGAGCTGC	0.622000									IgA Deficiency, Selective					16			12		0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61118849	61118849	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:61118849A>G	uc002sam.1	+	1	266	c.42A>G	c.(40-42)gaA>gaG	p.E14E	REL_uc002san.1_Silent_p.E14E	NM_002908	NP_002899	Q04864	REL_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA.	14	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGATAATTGAACAACCCAGGC	0.413000			A		Hodgkin Lymphoma									58			34		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3029915	3029915	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3029915G>A	uc002fvc.1	-	0	931	c.931C>T	c.(931-933)Cat>Tat	p.H311Y		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TAAGGGGAATGAATTTTCCGA	0.423000														34			37		0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54496152	54496152	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54496152C>T	uc002qct.3	+	0	611	c.21C>T	c.(19-21)ttC>ttT	p.F7F	CACNG6_uc002qcu.3_Silent_p.F7F|CACNG6_uc002qcv.3_Silent_p.F7F	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	7						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCAACTTCTTCCTGCAAGAGG	0.741000														18			4		0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332230	50332230	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:50332230G>A	uc021wyn.1	-	1	890	c.804C>T	c.(802-804)ttC>ttT	p.F268F	HYAL3_uc003cze.2_Silent_p.F19F|HYAL3_uc003czf.2_Silent_p.F19F|HYAL3_uc003czd.2_Silent_p.F268F|HYAL3_uc003czg.2_Silent_p.F268F	NM_001200029	NP_001186958	O43820	HYAL3_HUMAN	Homo sapiens hyaluronoglucosaminidase 3 (HYAL3), transcript variant 5, mRNA.	268					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGCCACACGGAAGGCCTCCT	0.652000														41			36		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327791	62327791	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62327791T>C	uc001ntm.1	-	7	1139	c.993A>G	c.(991-993)gaA>gaG	p.E331E	EEF1G_uc010rlw.1_Silent_p.E381E	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	331	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGAGTGAGTTCTTCAGGGA	0.502000														20			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13865994	13865994	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13865994G>A	uc003jfd.2	-	26	4180	c.4138C>T	c.(4138-4140)Cgg>Tgg	p.R1380W		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1380	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGTATTTCCGATAGATATTA	0.318000									Kartagener syndrome					40			20		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938428	38938428	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38938428C>T	uc021wvy.1	-	13	2510	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	771					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CACATATTTTCGATCCATTCC	0.473000														35			29		0	0	1	0	0
IL17F	112744	broad.mit.edu	37	6	52101834	52101834	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:52101834G>A	uc003pam.1	-	2	458	c.387C>T	c.(385-387)gtC>gtT	p.V129V	IL17F_uc003pal.1_Silent_p.V75V	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	129					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.L128P(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TCCTCCGGACGACCAGGGTCT	0.542000														78			26		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94674448	94674448	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94674448G>A	uc001dqj.4	-	4	819	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.F150F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	150					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTCCCATAAGGAAGTTTGTAA	0.333000														57			68		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3449301	3449301	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:3449301G>A	uc003ghc.3	+	10	1441	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	HGFAC_uc010icw.3_Missense_Mutation_p.E487K	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	480	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCGGCATCGAGAAGTACAT	0.662000														151			92		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539803	142539803	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:142539803C>T	uc003evd.3	-	7	1341	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	345	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.G345E(2)|p.E344K(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGCCAAATTTCCCTCTTTGTA	0.507000														37			27		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62177279	62177280	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:62177279_62177280TG>AA	uc003dlb.3	+	8	1889_1890	c.1170_1171TG>AA	c.(1168-1173)aatgag>aaAAag	p.390_391NE>KK	PTPRG_uc003dlc.3_Missense_Mutation_p.390_391NE>KK	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	390	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGACCAAGAATGAGGACGAGAA	0.535000														27			20		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153987	102153987	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:102153987G>A	uc003dvt.1	+	0	129	c.29G>A	c.(28-30)gGa>gAa	p.G10E	ZPLD1_uc003dvs.1_Intron|ZPLD1_uc011bhg.1_5'UTR	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	0						integral to membrane		p.G10V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGTGCAGGGGAAATGATGAA	0.368000														41			30		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177937101	177937101	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:177937101G>A	uc001glj.1	-	6	882	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.P6S|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.P6S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	6					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGCCTCTGGGGAGCCCAAAGT	0.498000														51			7		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005753	78005753	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:78005753G>A	uc002ffg.1	+	7	1181	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	362							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCAGGTGAAGGAGGCCATGCA	0.512000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		191			136		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118881	194118881	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:194118881G>A	uc003ftv.1	-	1	162	c.131C>T	c.(130-132)tCc>tTc	p.S44F	GP5_uc021xiz.1_Missense_Mutation_p.S44F	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	44	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCTAGCGCGGAGATGCGCGC	0.697000														57			9		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563331	125563331	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125563331G>A	uc011lze.2	+	0	930	c.930G>A	c.(928-930)agG>agA	p.R310R		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TTGGGCGAAGGATCTCAGCTA	0.562000														36			25		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720328	14720328	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:14720328C>T	uc003zlj.3	-	1	609	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	188	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.G188R(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ACCCGCATTTCCCAAAGCAAA	0.448000														4			17		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20500617	20500617	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:20500617C>T	uc001iqg.1	+	9	1718	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	PLXDC2_uc001iqh.1_Missense_Mutation_p.R312C|PLXDC2_uc009xkc.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	361	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGGATTTGATCGTCATCGGCA	0.438000														23			21		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424252	151424252	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:151424252C>T	uc010ntk.1	-	4	789	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	183					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCTGACCTCATTGTATAGA	0.463000														13			62		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797769	148797769	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:148797769C>T	uc004fdq.3	+	4	778	c.623C>T	c.(622-624)tCg>tTg	p.S208L	MAGEA11_uc004fdr.3_Missense_Mutation_p.S179L	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	208						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAAGTACCTCGCCTGACCTG	0.498000														10			63		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920414	4920414	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:4920414G>A	uc001qng.3	+	0	2073	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	KCNA6_uc021qtr.1_Missense_Mutation_p.D403N	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	403						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D402D(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGACGATGACGATTCGCTTTT	0.572000										HNSCC(72;0.22)				63			52		0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62554186	62554186	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62554186G>T	uc001nvc.3	+	10	1488	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	TMEM179B_uc001nvd.4_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	429					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CGGGGCCGGAGGACCCTTCTC	0.672000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			20		1.33834e-09	1.3463e-09	1	1	0
SLC35E3	55508	broad.mit.edu	37	12	69140310	69140310	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:69140310C>T	uc001suh.3	+	0	375	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	51						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGTGCACTTCGTGGTCACCT	0.552000														52			17		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632529	158632529	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158632529G>A	uc001fst.1	-	16	2626	c.2427C>T	c.(2425-2427)atC>atT	p.I809I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	809			I -> V (in dbSNP:rs7547313).		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)					CAGTCTCTTGGATCCAGGCCT	0.502000														72			24		0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85655855	85655855	+	Silent	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:85655855A>C	uc009wcm.3	-	1	1375	c.1326T>G	c.(1324-1326)ccT>ccG	p.P442P	SYDE2_uc001dku.4_Silent_p.P442P	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	442					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGGATGTATAGGATTCATTC	0.468000														83			132		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391114	89391114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:89391114G>A	uc003dqy.3	+	4	1405	c.1180G>A	c.(1180-1182)Gtg>Atg	p.V394M	EPHA3_uc003dqx.1_Missense_Mutation_p.V394M|EPHA3_uc021xbf.1_Missense_Mutation_p.V394M	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	394	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.T393K(1)|p.T393T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAACACCACGGTGACAGTGAC	0.488000										TSP Lung(6;0.00050)				52			38		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910909	23910909	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:23910909G>A	uc001uon.2	-	9	7695	c.7106C>T	c.(7105-7107)cCa>cTa	p.P2369L	SACS_uc001uoo.2_Missense_Mutation_p.P2222L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2369					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone 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)		ATAAAGGTATGGTGCCGCCTC	0.348000														35			27		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392598	178392598	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:178392598C>T	uc003mjo.2	+	4	1494	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	ZNF454_uc010jkz.2_Missense_Mutation_p.S398F|ZNF454_uc021yjc.1_Missense_Mutation_p.S398F	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GATAATTCATCCTTTGCACGA	0.428000														48			30		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179761	103179761	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:103179761C>T	uc022ajr.1	-	44	7104	c.6944G>A	c.(6943-6945)gGa>gAa	p.G2315E	RELN_uc022ajq.1_Missense_Mutation_p.G2315E|RELN_uc010liz.3_Missense_Mutation_p.G2315E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2315					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAATATTTCCTCCAATAAG	0.373000														20			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418802	179418802	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179418802C>T	uc021vsy.1	-	281	81557	c.81332G>A	c.(81331-81333)gGa>gAa	p.G27111E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20806E|TTN_uc021vta.1_Missense_Mutation_p.G20739E|TTN_uc021vtb.1_Missense_Mutation_p.G20614E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28038	Ig-like 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAAACCATCCTAGGCTCTT	0.408000														78			57		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148192	34148192	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:34148192C>T	uc004ddg.3	-	0	2256	c.2204G>A	c.(2203-2205)gGa>gAa	p.G735E		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	735										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						GGCAATTGGTCCATAAAGATC	0.423000														99			5		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282888	105282888	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:105282888C>T	uc001tla.3	-	3	970	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	268						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GTAATATTTTCCTTCTGGAAT	0.383000														44			35		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985097	157985097	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:157985097G>A	uc003wno.3	-	4	592	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PTPRN2_uc003wnp.3_Silent_p.F140F|PTPRN2_uc003wnq.3_Silent_p.F157F|PTPRN2_uc003wnr.3_Silent_p.F119F|PTPRN2_uc011kwa.2_Silent_p.F180F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	157						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCCTCCAGGAAGGGCAGGT	0.677000														37			20		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599766	29599766	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:29599766G>A	uc001usl.4	+	0	1019	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	311						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCAAGCTGGATCTGAAATA	0.512000														26			23		0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577669	16577670	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16577669_16577670GG>AA	uc001ayg.3	-	9	1865_1866	c.1649_1650CC>TT	c.(1648-1650)gcc>gTT	p.A550V	FBXO42_uc001ayf.3_Missense_Mutation_p.A457V	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	550										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGGGGAGACGGCCCCTGCAAG	0.594000														13			40		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281650	103281650	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:103281650G>A	uc002tca.3	+	2	987	c.845G>A	c.(844-846)gGa>gAa	p.G282E		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	282						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGTTGTGGGAATCGGTGGG	0.453000														96			68		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67790898	67790898	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:67790898C>T	uc003xwz.4	+	5	742	c.571C>T	c.(571-573)Ctt>Ttt	p.L191F	MCMDC2_uc003xwv.3_Missense_Mutation_p.L191F|MCMDC2_uc011lev.2_Missense_Mutation_p.L191F|MCMDC2_uc011lew.2_Missense_Mutation_p.L122F|MCMDC2_uc011lex.2_5'UTR|MCMDC2_uc003xwy.4_Missense_Mutation_p.L191F	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	191					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TGCATCTTCACTTCAAGAAGA	0.294000														96			17		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559446	129559446	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:129559446C>T	uc009zyl.1	-	8	2602	c.2274G>A	c.(2272-2274)gcG>gcA	p.A758A	TMEM132D_uc001uia.2_Silent_p.A296A	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	758						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTCTGTTTCCGCAGCAATGA	0.478000														61			30		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679199	87679199	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:87679199A>T	uc003ydx.3	-	5	854	c.806T>A	c.(805-807)cTa>cAa	p.L269Q	CNGB3_uc010maj.3_Missense_Mutation_p.L131Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	269					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGGATAAATAGCATATCATA	0.428000														41			28		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54344824	54344824	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:54344824C>T	uc003hag.4	-	7	1827	c.1571G>A	c.(1570-1572)gGg>gAg	p.G524E	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.G428E|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	524	PDZ 3.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGATGCTCCCCCTGCGACGGT	0.468000														74			49		0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324422	3324422	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3324422C>T	uc010vrd.2	+	0	561	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ATCACTTCTACTGTGACCTCC	0.577000														67			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547541	179547541	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179547541C>T	uc021vsy.1	-	131	29470	c.29245G>A	c.(29245-29247)Gaa>Aaa	p.E9749K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6410K|TTN_uc010fre.1_Missense_Mutation_p.E596K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10676	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATATTCTTCATATTCCTCA	0.353000														49			33		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804623	54804623	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54804623C>T	uc003pck.3	+	4	970	c.854C>T	c.(853-855)tCa>tTa	p.S285L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	285								p.S284C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCCCTAGTTCATTTGCTCAG	0.443000														135			12		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725972	168725972	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168725972C>T	uc021vsc.1	+	0	423	c.423C>T	c.(421-423)atC>atT	p.I141I	B3GALT1_uc002udz.1_Silent_p.I141I	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	141					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.I140I(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATGATATCATCGTGGAGGACT	0.453000														48			33		0	0	1	0	0
TRIM73	378108	broad.mit.edu	37	7	75028289	75028290	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:75028289_75028290GG>AA	uc010ldc.3	+	1	272_273	c.72_73GG>AA	c.(70-75)aaggag>aaAAag	p.E25K	TRIM73_uc003udc.1_Missense_Mutation_p.E25K|TRIM73_uc010ldd.2_Missense_Mutation_p.E25K	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 73 (TRIM73), mRNA.	25						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGGTCTTCAAGGAGTCCCTAAT	0.614000														55			4		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104046352	104046352	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:104046352G>A	uc001tjw.3	+	11	1462	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	426	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCTTTTGGTGGATAATAAAGC	0.343000														34			19		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20322515	20322515	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20322515C>T	uc002wru.3	+	25	3577	c.3463C>T	c.(3463-3465)Cgt>Tgt	p.R1155C	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1155										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTTCCACGATCGTTTTATTGA	0.443000														25			19		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798780	55798780	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55798780G>A	uc010riw.2	+	0	886	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAGAAACAAGGATGTGAAAAA	0.323000														42			34		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18099283	18099283	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:18099283G>A	uc002nht.3	+	6	1429	c.1119G>A	c.(1117-1119)aaG>aaA	p.K373K	KCNN1_uc010xqa.1_Silent_p.K373K	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	373					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						AGCTCACCAAGGCTGAGAAGC	0.637000														14			8		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614950	3614950	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3614950C>T	uc010btn.3	-	3	499	c.88G>A	c.(88-90)Gat>Aat	p.D30N		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	30					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCAGCAGATCCATGAGGGCT	0.692000														13			9		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160059207	160059207	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:160059207C>T	uc003lym.1	-	12	2396	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	ATP10B_uc003lyn.3_Missense_Mutation_p.G75S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	517					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGTAGTGGCCCTGGATGGGC	0.572000														35			27		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299885	62299885	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62299885G>A	uc001ntl.3	-	4	2304	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	668					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)				TGACATCTGGGGCTTCCACAT	0.502000														90			81		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771804	152771804	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:152771804C>T	uc021zhb.1	-	24	3574	c.3351G>A	c.(3349-3351)agG>agA	p.R1117R	SYNE1_uc003qot.4_Silent_p.R1124R|SYNE1_uc003qou.4_Silent_p.R1117R|SYNE1_uc010kjb.1_Silent_p.R1100R|SYNE1_uc003qow.3_Silent_p.R412R|SYNE1_uc003qox.1_Silent_p.R633R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1117					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CCATGAGCTTCCTGTAGGTGC	0.517000										HNSCC(10;0.0054)				185			39		0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139488168	139488169	+	Missense_Mutation	DNP	CC	TT	TT	rs150947459		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139488168_139488169CC>TT	uc003qin.3	+	1	1304_1305	c.1019_1020CC>TT	c.(1018-1020)ccc>cTT	p.P340L		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	340					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TTCGACACCCCCGTGCAGTTCC	0.589000														50			31		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558834	140558834	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140558834G>A	uc011dai.2	+	0	1464	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	407	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTACTAACAGAGACACCACT	0.468000														198			66		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601801	138601801	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:138601801G>A	uc011kql.2	-	1	2620	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F	KIAA1549_uc011kqj.2_Silent_p.F857F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	857						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGGCAGAGGGAAGGGGGTTG	0.582000			O	BRAF	pilocytic astrocytoma									23			10		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673805	120673805	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:120673805C>T	uc003eec.4	+	2	348	c.208C>T	c.(208-210)Cct>Tct	p.P70S	STXBP5L_uc011bji.2_Missense_Mutation_p.P70S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	70					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCATGGTTTTCCTCATCAGCC	0.383000														31			15		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167805697	167805697	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167805697G>A	uc001ger.3	-	22	3457	c.3159C>T	c.(3157-3159)atC>atT	p.I1053I	ADCY10_uc009wvj.3_5'Flank|ADCY10_uc010plj.2_Silent_p.I900I|ADCY10_uc009wvk.3_Silent_p.I961I	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1053					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTCCAGAGGGATAATGTCTT	0.383000														51			61		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504439	151504439	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:151504439C>T	uc003ilw.3	+	0	1363	c.258C>T	c.(256-258)ttC>ttT	p.F86F	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	86					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGGGCGTCTTCAACTTCGTGG	0.602000														54			41		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454896	33454896	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:33454896G>A	uc003xjp.3	-	1	471	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DUSP26_uc003xjq.3_Silent_p.F46F	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	46						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCTCCAACTCGAAGACATTGA	0.567000														41			22		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117846589	117846589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:117846589G>A	uc004bjj.4	-	3	2442	c.2030C>T	c.(2029-2031)aCc>aTc	p.T677I	TNC_uc010mvf.3_Missense_Mutation_p.T677I|TNC_uc022bmj.1_Missense_Mutation_p.T677I	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	677	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGGATGATGGTGGACGTCTG	0.572000														56			34		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454643	84454643	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:84454643G>A	uc001vlk.3	-	0	1886	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	334	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTAGCTAAGGGTTTGTTCCTG	0.547000														67			47		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892867	166892867	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:166892867C>G	uc002udo.4	-	17	3347	c.3120G>C	c.(3118-3120)agG>agC	p.R1040S	SCN1A_uc010fpk.3_Missense_Mutation_p.R1012S|SCN1A_uc021vsb.1_Missense_Mutation_p.R1029S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1040						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1039P(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTTGTTTCCTAATGAAGG	0.313000														25			17		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515899	140515899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140515899G>A	uc003liq.3	+	0	1100	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E295K(2)		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)			TGTAATAGACGAGAAAACAGC	0.458000														115			77		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144806570	144806570	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:144806570C>A	uc003qkt.3	+	26	3829	c.3737C>A	c.(3736-3738)aCt>aAt	p.T1246N		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1246					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GATCTTGAAACTACCTGGTTA	0.438000														103			78		9.35569e-46	9.52829e-46	1	1	0
ERRFI1	54206	broad.mit.edu	37	1	8073547	8073547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:8073547C>T	uc001aoz.3	-	3	1361	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	ERRFI1_uc001apa.1_Missense_Mutation_p.G296E	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	371					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding	p.E370K(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ACTGGCAGATCCTTCGCTGTT	0.483000														26			74		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250978	142250978	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142250978G>A	uc011ksf.2	-	1	84	c.69C>T	c.(67-69)atC>atT	p.I23I	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GTGCCTGGGTGATCCCAGCAG	0.522000														44			29		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275235	71275235	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:71275235C>T	uc003hfi.3	+	2	364	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	64	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTTTCTCTTCCCTTTGTCCC	0.498000														110			98		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45535846	45535846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:45535846C>T	uc021uvq.1	+	8	1177	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	RELB_uc021uvp.1_Missense_Mutation_p.S346F	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	349	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCTGACTTCTCCCAGGCCGAC	0.597000														14			6		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815382	158815382	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158815382G>A	uc001fsz.1	+	4	776	c.576G>A	c.(574-576)caG>caA	p.Q192Q		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	192					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CACAGAATCAGGAAACCCAGG	0.512000														48			19		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42196586	42196586	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:42196586G>A	uc002xkv.3	+	3	574	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	SGK2_uc002xkr.3_Missense_Mutation_p.A59T|SGK2_uc010ggm.3_Missense_Mutation_p.A59T|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.A59T|SGK2_uc002xkq.1_Missense_Mutation_p.A59T	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	119	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTCTGATGGGGCGTTCTATGC	0.498000														43			25		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870209	51870209	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:51870209G>A	uc002xwo.3	+	1	1099	c.212G>A	c.(211-213)gGa>gAa	p.G71E	TSHZ2_uc021wex.1_Missense_Mutation_p.G68E	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	71					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AACTCTCCAGGAAGTCATTTG	0.547000														40			23		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891339	11891339	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:11891339C>T	uc010dyj.3	+	3	894	c.700C>T	c.(700-702)Cct>Tct	p.P234S	ZNF441_uc002msn.4_Missense_Mutation_p.P190S	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACAGCGTTTCCTGCTTATAG	0.398000														49			38		0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123535038	123535038	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:123535038C>G	uc004bkn.2	-	5	1323	c.996G>C	c.(994-996)gaG>gaC	p.E332D	FBXW2_uc011lyc.1_Missense_Mutation_p.E171D|FBXW2_uc004bkl.1_Missense_Mutation_p.E300D|FBXW2_uc004bkm.1_Missense_Mutation_p.E300D|FBXW2_uc010mvj.1_Missense_Mutation_p.E235D	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	Homo sapiens F-box and WD repeat domain containing 2 (FBXW2), mRNA.	300					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TCACCTTAATCTCATATTTGT	0.363000														8			9		0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7890057	7890057	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7890057C>T	uc001qtg.1	-	3	523	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CLEC4C_uc001qth.1_Missense_Mutation_p.D117N|CLEC4C_uc001qti.1_Missense_Mutation_p.D86N	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	117	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ACCACCAGATCAGCCCCCATC	0.423000														72			60		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219189	134219189	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:134219189C>T	uc001lll.4	+	1	1214	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	PWWP2B_uc009ybe.3_Silent_p.P395P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	395										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGAGCTGTCCCCAGGGTCCAC	0.672000														29			21		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784653	83784653	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:83784653G>A	uc002bjp.3	+	2	362	c.253G>A	c.(253-255)Gat>Aat	p.D85N	TM6SF1_uc010bmq.3_Missense_Mutation_p.D85N|TM6SF1_uc002bjq.3_Missense_Mutation_p.D85N|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	85						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACTGGAGCAAGATGGAATCAT	0.433000														31			20		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71830897	71830897	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:71830897T>A	uc004eax.4	-	21	2808	c.2507A>T	c.(2506-2508)aAa>aTa	p.K836I	PHKA1_uc004eay.4_Missense_Mutation_p.K836I|PHKA1_uc011mqi.2_Missense_Mutation_p.K777I	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	836	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGCTTCCACTTTCTTCCTTAA	0.368000														2			12		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364610	5364610	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5364610C>T	uc001map.1	-	0	145	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E49K	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTGATCTTCCTTAATGAGA	0.498000														41			31		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792797	65792797	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65792797G>A	uc001ogt.3	-	0	1192	c.1054C>T	c.(1054-1056)Cac>Tac	p.H352Y		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	352					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGTGCTACGTGATAGGGGAAG	0.587000														32			28		0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114964187	114964187	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:114964187G>A	uc001eew.3	-	10	2016	c.1932C>T	c.(1930-1932)agC>agT	p.S644S	TRIM33_uc010owr.2_Silent_p.S234S|TRIM33_uc010ows.2_Silent_p.S252S|TRIM33_uc001eex.3_Silent_p.S644S	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	644					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTAGTAGGGCTCGTTGGGT	0.468000			T	RET	papillary thyroid									101			35		0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831234	36831234	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:36831234G>A	uc010xtd.2	-	3	1576	c.1497C>T	c.(1495-1497)caC>caT	p.H499H	ZFP14_uc010eex.2_Silent_p.H498H	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GAATTCTCTGGTGTTGAGTAA	0.393000														44			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769122	13769122	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13769122C>T	uc003jfd.2	-	57	9886	c.9844G>A	c.(9844-9846)Gaa>Aaa	p.E3282K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3282	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAGTTTTTCTTCAGCAATG	0.483000									Kartagener syndrome					106			70		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39450282	39450282	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:39450282G>A	uc003gua.3	+	4	3208	c.3111G>A	c.(3109-3111)aaG>aaA	p.K1037K	KLB_uc011byj.2_Silent_p.K1028K	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	1037					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TACCATTAAAGAAAGGCAAGA	0.368000														58			32		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747631	143747631	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143747631G>A	uc011ktw.2	+	0	137	c.137G>A	c.(136-138)gGg>gAg	p.G46E		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GCCATCCTGGGGCTCATCTGG	0.522000														76			57		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127253477	127253477	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:127253477C>T	uc004boo.1	-	5	1208	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	NR5A1_uc022bnh.1_Missense_Mutation_p.G301S	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	341	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						AGCAGCGAGCCCGCCTGGGTG	0.682000														10			4		0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	652849	652849	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:652849G>A	uc010drs.3	-	1	223	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	37							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCTCCTCGATAAAACCAG	0.597000														14			9		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70917840	70917840	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70917840G>A	uc002ezr.3	-	58	10110	c.9959C>T	c.(9958-9960)gCt>gTt	p.A3320V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3321										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACAGGCTTCAGCTAGCAAAGT	0.537000														30			29		0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17715992	17715992	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:17715992C>T	uc002gru.2	-	18	3582	c.3388G>A	c.(3388-3390)Gac>Aac	p.D1130N	SREBF1_uc002gro.4_5'Flank|SREBF1_uc002grp.2_Missense_Mutation_p.D749N|SREBF1_uc002grq.2_Missense_Mutation_p.D649N|SREBF1_uc002grr.2_Missense_Mutation_p.D876N|SREBF1_uc002grs.2_Missense_Mutation_p.D1106N|SREBF1_uc002grt.2_Missense_Mutation_p.D1160N	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	1130					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCTGACAGTCGTGCAGCAGC	0.692000														11			10		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544291	115544291	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:115544291C>T	uc003ibs.2	+	1	777	c.255C>T	c.(253-255)ttC>ttT	p.F85F	UGT8_uc003ibt.2_Silent_p.F85F|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	85					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CAGATGCTTTCCTACAGTCCA	0.468000														79			52		0	0	1	0	0
C20orf11	54994	broad.mit.edu	37	20	61574527	61574527	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61574527C>T	uc002ydy.3	+	2	484	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	103	CTLH.					nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					TCTTTACTTCCATTTGCAGGT	0.418000														72			14		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15838877	15838877	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15838877C>T	uc002nbm.2	+	0	44	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACCACACCTCCATGTCTGAAT	0.562000														121			64		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204508	9204508	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9204508G>A	uc010xkj.2	+	0	588	c.588G>A	c.(586-588)agG>agA	p.R196R		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGTGAATAGGATCTTCATCC	0.567000														87			50		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48886772	48886772	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:48886772G>A	uc001rrr.3	+	6	367	c.236G>A	c.(235-237)aGg>aAg	p.R79K	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	79										endometrium(1)|large_intestine(4)	5						TCAGCACCCAGGACTGGGTAA	0.522000														36			16		0	0	1	0	0
FXC1	26515	broad.mit.edu	37	11	6503075	6503075	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6503075C>T	uc001mdn.4	+	1	198	c.128C>T	c.(127-129)gCt>gTt	p.A43V	ARFIP2_uc001mdk.3_5'Flank|ARFIP2_uc010ran.2_5'Flank|ARFIP2_uc010ral.2_5'Flank|ARFIP2_uc010ram.2_5'Flank|ARFIP2_uc009yfe.2_5'Flank|FXC1_uc001mdo.4_Intron	NM_012192	NP_036324	Q9Y5J6	TIM9B_HUMAN	Homo sapiens fracture callus 1 homolog (rat) (FXC1), nuclear gene encoding mitochondrial protein, mRNA.	43					cell-matrix adhesion|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	metal ion binding						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.26e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTCTGGACGCTGAGGAGGTG	0.577000														30			22		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799944	67799944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:67799944G>A	uc001vik.3	-	1	3321	c.2629C>T	c.(2629-2631)Ccc>Tcc	p.P877S	PCDH9_uc001vil.3_Missense_Mutation_p.P877S|PCDH9_uc010thl.2_Missense_Mutation_p.P877S|PCDH9_uc001vin.3_Missense_Mutation_p.P877S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	877					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGCTTTTGGGAGACTTCCTT	0.443000														85			58		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410631	204410631	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:204410631G>A	uc001haw.3	-	21	3696	c.3217C>T	c.(3217-3219)Ccc>Tcc	p.P1073S	PIK3C2B_uc010pqv.2_Missense_Mutation_p.P1045S	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1073					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCACCCAGGGGATCCACATTT	0.522000														26			26		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70000994	70000994	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:70000994A>C	uc003dnz.3	+	6	1057	c.894A>C	c.(892-894)agA>agC	p.R298S	MITF_uc011bgb.2_Missense_Mutation_p.R246S|MITF_uc003doa.3_Missense_Mutation_p.R297S|MITF_uc003dob.3_Missense_Mutation_p.R282S|MITF_uc021xam.1_Missense_Mutation_p.R135S|MITF_uc003doe.3_Missense_Mutation_p.R191S|MITF_uc003dof.3_Missense_Mutation_p.R197S	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	304					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGAAGCAAGAGCACTGGCCA	0.368000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							28			12		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62196247	62196247	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62196247G>A	uc002yfm.2	-	8	4820	c.3928C>T	c.(3928-3930)Ccg>Tcg	p.P1310S	PRIC285_uc002yfl.1_Missense_Mutation_p.P741S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1310					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding	p.P1310S(2)		NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGGTCCGACGGGGGCACCCTC	0.672000														23			16		0	0	1	0	0
FXYD4	53828	broad.mit.edu	37	10	43871510	43871510	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:43871510C>T	uc001jaq.1	+	7	575	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_001184963	NP_001171892	P59646	FXYD4_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA.	81						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						TCCCACTCATCACTCCAGGTG	0.567000														41			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049605	9049605	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9049605C>T	uc002mkp.3	-	4	32230	c.32026G>A	c.(32026-32028)Gaa>Aaa	p.E10676K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10678	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGTTTCATGTGGGGAC	0.453000														60			44		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390349	158390349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158390349G>A	uc010pii.2	-	0	308	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAAGAGGAAGGAAAACATTTG	0.483000														76			141		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22661564	22661564	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:22661564C>T	uc021wml.1	+	29		c.2373C>T			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TCAGACCATCCCGCTCTGTTA	0.453000														30			5		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655007	19655007	+	Silent	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:19655007C>G	uc002nmw.4	+	7	1756	c.1671C>G	c.(1669-1671)gtC>gtG	p.V557V	CILP2_uc002nmv.4_Silent_p.V551V	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	551						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCACGAGGTCAAGGCCATGC	0.617000														45			28		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336556	42336556	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:42336556G>A	uc002igf.4	-	8	1000	c.851C>T	c.(850-852)gCt>gTt	p.A284V	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	284					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGTGGCAGCAGCCCGGCCAAG	0.647000														24			26		0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48444529	48444529	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:48444529G>A	uc002ley.3	+	6	939	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ME2_uc010dpd.3_Missense_Mutation_p.R227H	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	AAACGAGATCGCACACAACAG	0.313000														35			37		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91861874	91861874	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:91861874C>T	uc001doa.4	-	2	259	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.E54K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	54							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTTCTAATTCTTCCTCTAAC	0.333000														40			9		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573426	41573426	+	Missense_Mutation	SNP	A	C	C	rs140187237		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:41573426A>C	uc003azl.4	+	30	6106	c.5711A>C	c.(5710-5712)cAg>cCg	p.Q1904P		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1904					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.Q1904P(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCAGCAGGCCAGGTGACCCCT	0.627000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					44			4		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10473274	10473274	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:10473274C>T	uc001arc.3	+	7	900	c.810C>T	c.(808-810)tcC>tcT	p.S270S	PGD_uc010oak.2_Silent_p.S248S	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	270					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCGCCATCTCCGCCCTGGAAT	0.537000														10			29		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109333	21109333	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21109333T>G	uc001vxv.1	-	0	518	c.518A>C	c.(517-519)cAg>cCg	p.Q173P		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CACAGCACCCTGCTTACAGAA	0.612000														38			29		0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95494522	95494522	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:95494522C>T	uc003hti.3	+	3	420	c.269C>T	c.(268-270)cCt>cTt	p.P90L	PDLIM5_uc003htf.3_Missense_Mutation_p.P90L|PDLIM5_uc003htg.3_Missense_Mutation_p.P90L|PDLIM5_uc011cdx.1_Missense_Mutation_p.P90L|PDLIM5_uc003htj.3_5'UTR|PDLIM5_uc003htk.3_Missense_Mutation_p.P90L|PDLIM5_uc011cdy.2_5'UTR|PDLIM5_uc003hth.3_Missense_Mutation_p.P90L	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	90					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GCACCCAAGCCTGAGCCGGTT	0.368000														38			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056775	9056776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9056775_9056776GG>AA	uc002mkp.3	-	2	30874_30875	c.30670_30671CC>TT	c.(30670-30672)cca>TTa	p.P10224L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10226	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGTCCACTGGAATTTCAGTA	0.455000														33			27		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248004713C>T	uc001idn.1	-	0	486	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(2)|p.L161P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000														129			51		0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:15605946C>T	uc003wwt.3	+	8	1344	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_uc003wwu.3_Missense_Mutation_p.R334C|TUSC3_uc022asi.1_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R334H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000														73			35		0	0	1	0	0
LOC441601	441601	broad.mit.edu	37	11	50246855	50246855	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:50246855C>T	uc001nhd.3	-	3		c.620G>A								Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA.																		TGTTGGCATTCCTCTGGTGTG	0.358000														7			3		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099665	142099665	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142099665G>A	uc003vyz.1	-	1	137	c.137C>T	c.(136-138)tCg>tTg	p.S46L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.S46L					SubName: Full=Uncharacterized protein;																		TACATGACCCGAAATTGGATC	0.502000														39			37		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32602682	32602682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:32602682C>T	uc010ezu.3	+	1	486	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	118					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGTGAAATGTCAGTATATCTC	0.353000														22			22		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22369378C>T	uc010tzu.2	+	0	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000														135			42		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123514403	123514403	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:123514403C>T	uc010nqy.3	-	31	8246	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	ODZ1_uc011muj.2_Missense_Mutation_p.E2727K|ODZ1_uc004euj.3_Missense_Mutation_p.E2721K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2721					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGCCTATTTCGCTCTGTCTC	0.373000														6			50		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39357241	39357241	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:39357241C>T	uc001uwv.3	+	4	5985	c.5676C>T	c.(5674-5676)tcC>tcT	p.S1892S	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1892	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAAATACTCCGTTGAAGAAG	0.443000														91			53		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	407018	407018	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:407018C>T	uc003zgf.2	+	27	3591	c.3479C>T	c.(3478-3480)aCc>aTc	p.T1160I	DOCK8_uc022bcu.1_Missense_Mutation_p.T1092I|DOCK8_uc010mgv.3_Missense_Mutation_p.T1060I|DOCK8_uc010mgu.3_Missense_Mutation_p.T462I|DOCK8_uc003zgk.2_Missense_Mutation_p.T618I	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1160					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CACTTCCTCACCGGGCTCCTC	0.517000														13			39		0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86373206	86373206	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:86373206C>T	uc002sqz.4	-	13	2036	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	IMMT_uc002sqy.4_Missense_Mutation_p.E291K|IMMT_uc010yte.2_Missense_Mutation_p.E503K|IMMT_uc002srb.4_Missense_Mutation_p.E539K|IMMT_uc002sra.4_Missense_Mutation_p.E549K|IMMT_uc010ytd.2_Missense_Mutation_p.E538K|IMMT_uc002src.1_Missense_Mutation_p.E286K	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	550						integral to mitochondrial inner membrane	protein binding	p.E550K(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGCCTGTTCGATTCCTCTG	0.358000														12			9		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271951	22271951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22271951G>A	uc010ecx.3	+	3	1568	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	ZNF257_uc010ecy.3_Missense_Mutation_p.A435T	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGTGGCAAAGCCTTTAACCA	0.408000														31			26		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964861	40964861	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:40964861C>T	uc003jmh.3	+	13	1882	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	590	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TACAATGTTTCCTGTGGGGAA	0.373000														47			32		0	0	1	0	0
CYB5B	80777	broad.mit.edu	37	16	69458751	69458751	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:69458751C>T	uc002exg.1	+	0	254	c.165C>T	c.(163-165)ttC>ttT	p.F55F	CYB5B_uc002exf.3_Silent_p.F55F	NM_030579	NP_085056	O43169	CYB5B_HUMAN	Homo sapiens cytochrome b5 type B (outer mitochondrial membrane) (CYB5B), nuclear gene encoding mitochondrial protein, mRNA.	51	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				TCACCCGCTTCCTCAACGAGG	0.592000														25			19		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40360866	40360866	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:40360866C>T	uc002omp.4	-	32	15550	c.15542G>A	c.(15541-15543)cGa>cAa	p.R5181Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5181	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGCAAGTATCGGCCATTATG	0.582000														45			31		0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18885165	18885165	+	Missense_Mutation	SNP	G	A	A	rs147725351		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:18885165G>A	uc010qcp.1	-	6	1167	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	250							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCAATGTGTGTTGTTTTCCC	0.398000														53			36		0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59041972	59041972	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:59041972A>G	uc001cyz.4	-	0	1195	c.857T>C	c.(856-858)gTg>gCg	p.V286A		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	286					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					gacgagggccaccacgaccac	0.602000														23			8		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199350	155199350	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:155199350C>T	uc021xge.1	-	22	4766	c.4489G>A	c.(4489-4491)Gac>Aac	p.D1497N	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.D1459N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1497					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATGTTAAGTCCCCCAGACTT	0.453000														47			30		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137323255	137323255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:137323255C>T	uc003qhj.3	-	6	1535	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	IL20RA_uc011edl.2_Missense_Mutation_p.E319K|IL20RA_uc003qhk.3_Missense_Mutation_p.E257K|IL20RA_uc003qhi.3_Missense_Mutation_p.E100K	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	368						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAAAAAATTTCCATCAAATGC	0.473000														53			26		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951160	30951160	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:30951160G>A	uc003aig.1	-	3	1192	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	GAL3ST1_uc003aih.1_Missense_Mutation_p.A351V|GAL3ST1_uc003aii.1_Missense_Mutation_p.A351V|GAL3ST1_uc010gvz.1_Missense_Mutation_p.A351V	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	351					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGCGTCCACGGCGTGGCCCCC	0.701000														10			14		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50897100	50897100	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:50897100T>C	uc001zyt.4	-	20	3233	c.2951A>G	c.(2950-2952)cAa>cGa	p.Q984R	TRPM7_uc010bew.2_Missense_Mutation_p.Q984R|TRPM7_uc001zyu.3_Missense_Mutation_p.Q542R	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	984					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCTGCCTGTTGATTTACAGC	0.299000														32			15		0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551335	100551335	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100551335C>T	uc001tgs.3	-	3	705	c.261G>A	c.(259-261)agG>agA	p.R87R	GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript|DQ579681_uc001tgx.3_5'Flank					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		CCCTGCAGGGCCTGGTGGGTC	0.627000														43			28		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100774643C>T	uc010svi.2	+	1	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_uc009ztx.3_Missense_Mutation_p.S89F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I88N(1)|p.S89T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000														51			56		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798393	140798393	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140798393G>A	uc003lkn.2	+	0	1134	c.967G>A	c.(967-969)Gac>Aac	p.D323N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.D323N|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	324	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGCAAAAGACCGAGGATC	0.398000														28			18		0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202000749	202000749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:202000749C>T	uc002uxb.4	+	3	907	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	CFLAR_uc002uwy.3_Nonsense_Mutation_p.Q148*|CFLAR_uc002uwz.3_Nonsense_Mutation_p.Q148*|CFLAR_uc010zhk.2_Nonsense_Mutation_p.Q52*|CFLAR_uc010zhl.2_Nonsense_Mutation_p.Q52*|CFLAR_uc002uxc.4_Nonsense_Mutation_p.Q148*|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Nonsense_Mutation_p.Q148*|CFLAR_uc002uxe.2_Nonsense_Mutation_p.Q148*|CFLAR_uc021vuw.1_Nonsense_Mutation_p.Q148*|CFLAR_uc010fsx.3_Nonsense_Mutation_p.Q148*|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Nonsense_Mutation_p.Q148*|CFLAR_uc010zhm.2_Nonsense_Mutation_p.Q52*|CFLAR_uc010fsz.3_5'UTR	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	148	DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGCCCCAGATCAACTGGATTT	0.393000														58			43		0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126774	41126774	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:41126774T>C	uc003opz.2	-	3	655	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	TREM2_uc003opy.2_Silent_p.P171P|TREM2_uc010jxl.1_Intron			Q9NZC2	TREM2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 2 (TREM2), mRNA.	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGAAGTGGGTGGGAAGGGGA	0.547000														30			11		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14869163	14869163	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrY:14869163C>T	uc004fst.1	+	12	2409	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	488					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTGAAAAGCTCCTTGAGTTGA	0.368000														4			46		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232561	56232561	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:56232561G>A	uc010wno.2	+	0	47	c.47G>A	c.(46-48)gGg>gAg	p.G16E	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTCCTCTTAGGGTTTTCACAG	0.438000														94			64		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	819555	819555	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:819555C>T	uc002cjz.1	-	15	3035	c.3035G>A	c.(3034-3036)gGg>gAg	p.G1012E	MIR662_uc021tac.1_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	661					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GATGCAAGTCCCCCAGTGCAG	0.632000														5			40		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144863421	144863421	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:144863421G>A	uc021ouh.1	-	36	6284	c.5982C>T	c.(5980-5982)ctC>ctT	p.L1994L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L1994L|PDE4DIP_uc001elx.4_Silent_p.L1888L|PDE4DIP_uc001elv.4_Silent_p.L1001L|PDE4DIP_uc001ema.3_3'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1994					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGCTGCAGGAGAACCAGCT	0.532000			T	PDGFRB	MPD									219			36		0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65347442	65347442	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:65347442G>A	uc002aoi.1	-	4	811	c.596C>T	c.(595-597)tCc>tTc	p.S199F	RASL12_uc002aoj.1_Missense_Mutation_p.S180F|RASL12_uc010uir.1_Missense_Mutation_p.S188F	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	199					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CCTCTCCTCGGAGATGAAGAG	0.657000														7			5		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617566	31617566	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:31617566G>A	uc011kae.2	+	7	778	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	CCDC129_uc011kad.1_Missense_Mutation_p.E240K|CCDC129_uc003tcj.1_Missense_Mutation_p.E230K|CCDC129_uc003tci.1_Missense_Mutation_p.E229K|CCDC129_uc003tck.1_Missense_Mutation_p.E138K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	230										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACAGAGCTGAAGAGAAAGC	0.498000														21			16		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541701	96541701	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96541701G>A	uc010qnz.2	+	4	766	c.766G>A	c.(766-768)Gac>Aac	p.D256N	CYP2C19_uc009xus.1_Missense_Mutation_p.D121N|CYP2C19_uc010qny.2_Missense_Mutation_p.D234N	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	256					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAATCGATGGACATCAACAA	0.353000														43			47		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068354	9068354	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9068354C>T	uc002mkp.3	-	2	19296	c.19092G>A	c.(19090-19092)ctG>ctA	p.L6364L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6366	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTAAATATCAGGGAGAAAG	0.463000														38			19		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679305	38679305	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:38679305G>A	uc021rsi.1	+	0	711	c.711G>A	c.(709-711)ggG>ggA	p.G237G	SSTR1_uc001wul.1_Silent_p.G237G	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	237					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCCCGTGGGGGCTATCTGCC	0.612000														29			29		0	0	1	0	0
FAM219A	203259	broad.mit.edu	37	9	34405955	34405955	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:34405955G>A	uc011lok.2	-	1	375	c.68C>T	c.(67-69)gCc>gTc	p.A23V	FAM219A_uc003zuj.3_Missense_Mutation_p.A23V|FAM219A_uc011lol.2_Missense_Mutation_p.A12V|FAM219A_uc003zul.3_Missense_Mutation_p.A12V|FAM219A_uc022bgc.1_Missense_Mutation_p.A23V|FAM219A_uc022bgd.1_Missense_Mutation_p.A23V|FAM219A_uc003zuk.3_Missense_Mutation_p.A12V	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN	Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.	23																	GGAGGCGGCGGCTGGGTCCTG	0.582000														7			25		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382512	41382512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:41382512C>T	uc003jmm.1	-	1	330	c.228G>A	c.(226-228)tgG>tgA	p.W76*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	76	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GAGTGGCTAACCATTTCCGCA	0.463000														42			28		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041520	90041520	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:90041520C>T	uc003kju.3	+	51	10978	c.10882C>T	c.(10882-10884)Ccc>Tcc	p.P3628S	GPR98_uc003kjt.3_Missense_Mutation_p.P1334S|GPR98_uc003kjv.3_Missense_Mutation_p.P1228S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3628					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTTAAAAATCCCAAAGGAGG	0.358000														34			22		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799016	25799016	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:25799016G>A	uc003nfh.4	-	11	1517	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.L467L|SLC17A1_uc010jqc.1_Silent_p.L411L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	467					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R466H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTCACCTTCAGAGACGTGTGT	0.433000														61			73		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52561999	52561999	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:52561999C>T	uc010bff.3	-	7	1053	c.891G>A	c.(889-891)gtG>gtA	p.V297V	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	297	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCGATCATTCACACCCTCAA	0.373000														83			54		0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42992243	42992243	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:42992243G>A	uc011apq.2	-	4	912	c.813C>T	c.(811-813)tcC>tcT	p.S271S	POLDIP3_uc011app.2_Silent_p.S175S|POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Silent_p.S254S|POLDIP3_uc003bcv.3_Silent_p.S225S|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	254					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCAGTGTCCGGGACATGTTGG	0.547000														13			28		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57095528	57095528	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:57095528A>G	uc021tiu.1	+	31	4198	c.4071_splice	c.e31-2	p.T1357_splice	NLRC5_uc021tiv.1_Splice_Site_p.T1161_splice|NLRC5_uc021tiw.1_Splice_Site_p.T1131_splice|NLRC5_uc010ccr.1_Splice_Site|NLRC5_uc010ccs.1_Splice_Site|NLRC5_uc002eko.1_Splice_Site|NLRC5_uc002ekq.1_Splice_Site|NLRC5_uc002ekr.1_Splice_Site_p.T244_splice	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1357					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCTGTCTCCAGGCTGACCCA	0.672000														38			25		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28491182	28491182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:28491182G>A	uc001iua.1	-	4	460	c.56C>T	c.(55-57)gCt>gTt	p.A19V	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.A19V|MPP7_uc009xla.2_Missense_Mutation_p.A19V|MPP7_uc010qdv.1_Intron	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	19	L27 1.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGGCAGAGCAGCCAACAGCTC	0.433000														47			31		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349887	100349887	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100349887C>T	uc003uwj.3	+	13	2324	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	ZAN_uc003uwk.3_Missense_Mutation_p.P720L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	720	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCCCCACAGAAAAA	0.512000														47			36		0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84302253	84302253	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:84302253G>A	uc004alz.3	-	1	562	c.121C>T	c.(121-123)Cac>Tac	p.H41Y	TLE1_uc004aly.3_Missense_Mutation_p.H41Y|TLE1_uc011lsr.2_Missense_Mutation_p.H41Y|TLE1_uc004ama.1_Missense_Mutation_p.H41Y|TLE1_uc011lss.1_Missense_Mutation_p.H41Y|BC036431_uc004amd.3_5'Flank	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	41	Gln-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACGCACCTGTGATACTGCGCC	0.657000											OREG0019267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			5		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196689091	196689091	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:196689091C>T	uc002utj.4	-	48	9280	c.9179G>A	c.(9178-9180)gGg>gAg	p.G3060E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3060	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACATGTACTCCCACCCTGCTT	0.393000														61			37		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479926	142479926	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142479926G>A	uc011ksq.2	+	1	141	c.58G>A	c.(58-60)Gat>Aat	p.D20N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCCCTTTGATGATGATGACAA	0.547000														88			86		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286264	223286264	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:223286264T>C	uc021pjl.1	-	0	110	c.110A>G	c.(109-111)aAc>aGc	p.N37S	TLR5_uc001hnv.2_Missense_Mutation_p.N37S|TLR5_uc001hnw.2_Missense_Mutation_p.N37S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	37					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTGGGTGAGGTTGCAGAAACG	0.532000														71			11		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709896	70709896	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:70709896G>A	uc003heo.3	-	6	868	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CATGAAGGGCGACAATTTCTG	0.398000														100			70		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568446	33568446	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:33568446C>T	uc002xbi.2	+	7	851	c.534C>T	c.(532-534)tcC>tcT	p.S178S	MYH7B_uc010gfa.1_Silent_p.S136S	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	136	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ATACGGCCTCCGTAGTGGCTG	0.542000														94			48		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78423706	78423706	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:78423706G>A	uc003kfu.4	+	6	1042	c.937G>A	c.(937-939)Gag>Aag	p.E313K	BHMT_uc011cti.2_Missense_Mutation_p.E160K	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	313	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.E312K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AATTGCAGAGGAGCTGGCCCC	0.537000														28			11		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297532	117297532	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:117297532G>A	uc001egu.4	+	1	370	c.341G>A	c.(340-342)gGa>gAa	p.G114E	CD2_uc010owz.1_Missense_Mutation_p.G114E|CD2_uc010oxa.1_Missense_Mutation_p.G114E	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	114	Ig-like V-type.|LFA-3 (CD58) binding region 2.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GATACAAAAGGAAAAAATGTG	0.308000														38			19		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:87738864G>A	uc003ydx.3	-	2	281	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000														107			91		0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874882	20874882	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:20874882C>T	uc010tze.1	-	2	463	c.256G>A	c.(256-258)Gtt>Att	p.V86I	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		TCTTTAATAACTGTTCCTATT	0.333000														50			13		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066503	18066503	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:18066503C>T	uc003stz.3	-	0	984	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	301					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TATGAGTTCTCCTTATGGCTT	0.363000														157			102		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877634	24877634	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:24877634G>A	uc001wpf.4	+	2	1076	c.758G>A	c.(757-759)aGg>aAg	p.R253K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	253					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCCAGAACAGGGGCCCAGAA	0.592000														28			22		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835232	38835232	+	Splice_Site	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38835232C>G	uc003ciq.3	-	1	270	c.270_splice	c.e1+1	p.R90_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	90					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAGCTCTTACCCGGTGTGTGC	0.567000														96			70		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43711285	43711285	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:43711285G>A	uc011aev.2	+	11	1620	c.1546G>A	c.(1546-1548)Gca>Aca	p.A516T	ABCG1_uc002zam.3_Missense_Mutation_p.A471T|ABCG1_uc002zan.3_Missense_Mutation_p.A495T|ABCG1_uc002zao.3_Missense_Mutation_p.A490T|ABCG1_uc002zap.3_Missense_Mutation_p.A493T|ABCG1_uc002zaq.3_Missense_Mutation_p.A505T|ABCG1_uc002zar.3_Missense_Mutation_p.A504T|ABCG1_uc010gpb.2_Missense_Mutation_p.G145D	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	505	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CAAGACCATGGCAGACGTGCC	0.527000														29			6		0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	135960482	135960482	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:135960482G>A	uc002tum.3	-	19	3178	c.3061C>T	c.(3061-3063)Cac>Tac	p.H1021Y	ZRANB3_uc002tuk.3_Missense_Mutation_p.H564Y|ZRANB3_uc002tul.3_Missense_Mutation_p.H1019Y	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1021						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGCTTGATGTGATCCACCTGC	0.448000														6			7		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15906613	15906613	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:15906613G>A	uc001awv.2	-	2	643	c.500C>T	c.(499-501)cCc>cTc	p.P167L	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	167					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAATATGGGATATGTGAT	0.373000														16			34		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387783	46387783	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:46387783G>A	uc002pds.1	-	0	1594	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGCACACCAGGGGTCTCAGC	0.721000														19			18		0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54678283	54678283	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:54678283C>T	uc001cxa.4	+	4	1019	c.942C>T	c.(940-942)atC>atT	p.I314I	MRPL37_uc009vzp.3_Silent_p.I183I	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	314					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CCAAGATGATCCTGTTTGCTT	0.537000														78			110		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41298774	41298774	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:41298774C>T	uc001cgh.2	+	10	1684	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	KCNQ4_uc001cgi.2_Silent_p.I480I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	534					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGACAGTCATCCGCTCCATCA	0.597000														41			16		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777573	141777573	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:141777573C>T	uc002tvj.1	-	11	2860	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	630					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAAGCTTTTTCCAGCCTGGCC	0.428000										TSP Lung(27;0.18)				50			39		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773232	60773233	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:60773232_60773233GG>AA	uc002sae.1	-	1	486_487	c.258_259CC>TT	c.(256-261)tcccct>tcTTct	p.P87S	BCL11A_uc002sab.3_Missense_Mutation_p.P87S|BCL11A_uc002sac.3_Missense_Mutation_p.P87S|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Missense_Mutation_p.P87S|BCL11A_uc002saf.1_Missense_Mutation_p.P87S|BCL11A_uc010fcg.3_Missense_Mutation_p.P87S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	87	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S86S(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ATTGGTGAAGGGGAAGGTGGCT	0.460000			T	IGH@	B-CLL									60			19		0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1275649	1275649	+	Silent	SNP	G	A	A	rs147684126	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:1275649G>A	uc001aer.4	-	6	794	c.747C>T	c.(745-747)atC>atT	p.I249I	DVL1_uc009vka.3_5'Flank|DVL1_uc002quu.3_5'Flank|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	249					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGACAGTGACGATGTTGAGGG	0.627000														5			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569660	179569660	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179569660C>T	uc021vsy.1	-	100	26131	c.25906G>A	c.(25906-25908)Gaa>Aaa	p.E8636K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5297K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9563	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCCTTTTCGTCCCTCTCT	0.328000														63			62		0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24357871	24357871	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:24357871G>A	uc003ndz.1	+	0	741	c.4G>A	c.(4-6)Gat>Aat	p.D2N	DCDC2_uc003ndx.3_Silent_p.I36I|DCDC2_uc003ndy.3_Silent_p.I36I	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	Homo sapiens kidney associated antigen 1 (KAAG1), mRNA.	2					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTCTCATGGATGACGACGC	0.642000														79			27		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159805039	159805039	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159805039G>A	uc001fue.4	+	4	1057	c.847G>A	c.(847-849)Gat>Aat	p.D283N	VSIG8_uc001fug.1_3'UTR	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	283						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCTTGTGCAGGATCTGCCATA	0.493000														50			27		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315252	22315252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22315252C>T	uc001wbz.1	+	1	415	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Nonsense_Mutation_p.Q45*					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		CAAAGGACTCCAGCTTCTCCT	0.493000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			54		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676241	52676241	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:52676241T>G	uc001vge.3	-	9	937	c.797A>C	c.(796-798)tAt>tCt	p.Y266S		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	266							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGAGTCAAATATTTGGGAAT	0.413000														76			56		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70515839	70515839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:70515839C>T	uc003xyg.2	+	10	1756	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	SULF1_uc010lza.1_Nonsense_Mutation_p.R399*|SULF1_uc003xyd.2_Nonsense_Mutation_p.R399*|SULF1_uc003xye.2_Nonsense_Mutation_p.R399*|SULF1_uc003xyf.2_Nonsense_Mutation_p.R399*|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	399					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTCAGGTTTCGAACAAACAA	0.413000														34			18		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120745922	120745922	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:120745922C>T	uc001pxn.2	+	10	1421	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	GRIK4_uc009zav.1_Silent_p.I378I|GRIK4_uc009zaw.1_Silent_p.I378I|GRIK4_uc009zax.1_Silent_p.I378I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	378					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTTTGAAAATCTTACAGTTCA	0.483000														36			27		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620555	137620555	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:137620555G>A	uc004cfe.3	+	5	1208	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	276	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E276K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTATTACTACGAATACCCCTA	0.607000														98			73		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525502	20525502	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:20525502C>T	uc003gpr.1	+	12	1454	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	SLIT2_uc003gps.1_Missense_Mutation_p.S417L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	417					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGGACCTTTTCACCTCTTCGG	0.428000														85			70		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101347261	101347261	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:101347261C>T	uc001pgk.4	-	5	1940	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	TRPC6_uc009ywy.3_Missense_Mutation_p.M389I|TRPC6_uc009ywz.1_Missense_Mutation_p.M450I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	505					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAGCCCATATCATGCCTGCAT	0.383000														42			29		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38987556	38987556	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:38987556G>A	uc002oit.3	+	41	6983	c.6853G>A	c.(6853-6855)Gag>Aag	p.E2285K	RYR1_uc002oiu.3_Missense_Mutation_p.E2285K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2285	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACAACAATGAGCTGGCCTT	0.642000														28			16		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465954	223465954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:223465954G>A	uc001hnx.3	-	1	822	c.188C>T	c.(187-189)cCc>cTc	p.P63L	SUSD4_uc001hny.4_Missense_Mutation_p.P63L|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.P63L|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	63	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCCATTCTCGGGAATGCCGGG	0.517000														35			54		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259209	151259209	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:151259209A>T	uc001exq.3	+	1	540	c.442A>T	c.(442-444)Acc>Tcc	p.T148S	ZNF687_uc001exp.1_Missense_Mutation_p.T157S|ZNF687_uc009wmo.3_Missense_Mutation_p.T148S|ZNF687_uc009wmp.3_Missense_Mutation_p.T148S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	148	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTGGGGGCACCTGGAAAGA	0.587000														43			56		0	0	1	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364268	142364268	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142364268A>C	uc003vzx.3	+	0	69	c.35A>C	c.(34-36)tAt>tCt	p.Y12S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGGCCTTTTATCTCCTGGGA	0.498000														12			10		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867247	5867247	+	Missense_Mutation	SNP	C	T	T	rs151065401		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:5867247C>T	uc002mdo.4	-	1	661	c.490G>A	c.(490-492)Gga>Aga	p.G164R	FUT5_uc010duo.3_Missense_Mutation_p.G164R|FUT5_uc021uno.1_Missense_Mutation_p.G164R	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	164					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTGAAGTATCCGTCCAGGGCT	0.672000														34			19		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753621	76753621	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:76753621C>T	uc002lmt.3	+	1	1630	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S	SALL3_uc010dra.3_Missense_Mutation_p.P151S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCCGACTCTCCCAGCGCCAC	0.736000														14			6		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095986	101095986	+	Splice_Site	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:101095986A>C	uc011mrk.1	-	8	840	c.480_splice	c.e8+1	p.E160_splice	NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Splice_Site|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Splice_Site|NXF5_uc004eil.1_Splice_Site	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	160					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTAAGGCTTCACCTCAGGGAA	0.483000														9			64		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377070	77377070	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77377070G>A	uc004ajl.1	-	25	4755	c.4517C>T	c.(4516-4518)tCg>tTg	p.S1506L	TRPM6_uc004ajk.1_Missense_Mutation_p.S1501L|TRPM6_uc022bib.1_Missense_Mutation_p.S1501L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.S462L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1506					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTCTGGGCCGATCTTGTTGA	0.532000														65			45		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484178	150484178	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:150484178C>T	uc001euv.3	+	6	1234	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	ECM1_uc010pcf.2_3'UTR|ECM1_uc010pce.2_3'UTR|ECM1_uc001eus.3_Silent_p.F318F|ECM1_uc001eut.3_Intron|ECM1_uc009wlu.3_Silent_p.F78F	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	318	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGAGGCGCTTCCGCTCTGTGC	0.602000														39			62		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158569980	158569980	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:158569980G>A	uc003qrc.2	-	4	414	c.272C>T	c.(271-273)gCc>gTc	p.A91V	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	91					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGCCTGCCAGGCAATACCTAA	0.363000														17			12		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767673	77767673	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77767673C>T	uc003yau.2	+	9	8903	c.8516C>T	c.(8515-8517)cCc>cTc	p.P2839L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2794L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2794						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2839H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTTGTCTCCCAAAGAGCCA	0.498000										HNSCC(33;0.089)				32			14		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125152546	125152546	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125152546G>A	uc004bmg.1	+	9	1501	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	PTGS1_uc011lys.1_Missense_Mutation_p.E394K|PTGS1_uc010mwb.1_Missense_Mutation_p.E310K|PTGS1_uc004bmf.1_Missense_Mutation_p.E419K|PTGS1_uc004bmh.1_Missense_Mutation_p.E347K|PTGS1_uc011lyt.1_Missense_Mutation_p.E347K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	456					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GGAGTCTCGGGAGATGCGGCT	0.577000														23			17		0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19153641	19153641	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:19153641C>T	uc002nld.3	+	2	583	c.151C>T	c.(151-153)Cca>Tca	p.P51S	ARMC6_uc002nlc.3_Missense_Mutation_p.P26S|ARMC6_uc010xql.2_Intron|ARMC6_uc010xqm.2_Missense_Mutation_p.P51S	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	51							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGCGATGGGGCCAGAGGAGGC	0.557000														48			22		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91433653	91433653	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:91433653G>A	uc002bpv.3	+	9	1378	c.1259G>A	c.(1258-1260)aGg>aAg	p.R420K	FES_uc010uqj.2_Missense_Mutation_p.R362K|FES_uc010uqk.2_Missense_Mutation_p.R402K|FES_uc002bpx.3_Missense_Mutation_p.R420K|FES_uc002bpy.3_Missense_Mutation_p.R362K|FES_uc010bny.3_Missense_Mutation_p.R362K	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	420					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAGGGGGGAAGGACACCCACG	0.642000														27			16		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15538731	15538731	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:15538731G>A	uc002yjm.3	-	4	758	c.748C>T	c.(748-750)Cca>Tca	p.P250S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.P229S|LIPI_uc021whi.1_Missense_Mutation_p.P64S|LIPI_uc021whj.1_Missense_Mutation_p.P229S|LIPI_uc021whe.1_Missense_Mutation_p.P229S|LIPI_uc021whf.1_Missense_Mutation_p.P229S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	229					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCTCCATTTGGATAAAAATCT	0.353000														54			33		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29486111	29486111	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:29486111G>A	uc002hgg.3	+	3	671	c.288_splice	c.e3+1	p.G96_splice	NF1_uc002hge.2_Splice_Site_p.G96_splice|NF1_uc002hgf.2_Splice_Site_p.G96_splice|NF1_uc002hgh.3_Splice_Site_p.G96_splice|NF1_uc010csn.2_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	96					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTCTTGCTGGGGTAAGTAAAT	0.353000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				31			16		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37329107	37329107	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:37329107G>A	uc001zjr.3	-	7	1882	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	MEIS2_uc001zjl.3_Missense_Mutation_p.P257S|MEIS2_uc010ucj.2_Missense_Mutation_p.P257S|MEIS2_uc001zjm.3_Missense_Mutation_p.P182S|MEIS2_uc001zjn.3_Missense_Mutation_p.P124S|MEIS2_uc001zjo.3_Missense_Mutation_p.P270S|MEIS2_uc001zjp.3_Missense_Mutation_p.P270S|MEIS2_uc001zjs.3_Missense_Mutation_p.P270S|MEIS2_uc001zju.3_Missense_Mutation_p.P257S|MEIS2_uc001zjt.3_Missense_Mutation_p.P270S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	270	Asp/Glu-rich (acidic).|Poly-Asp.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCCTTATCCGGATCATCATCG	0.418000														63			45		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266512	39266512	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:39266512C>T	uc001uwv.3	+	0	5340	c.5031C>T	c.(5029-5031)ttC>ttT	p.F1677F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1677					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTTGGGGTTCATGATCACAA	0.473000														45			51		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699961	151699961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151699961G>A	uc003wkp.3	+	5	1091	c.821G>A	c.(820-822)gGa>gAa	p.G274E	GALNTL5_uc010lqf.3_Missense_Mutation_p.G163E|GALNTL5_uc003wkq.3_Missense_Mutation_p.G25E|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	274						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTGTAAGGGGAACTTTTGAT	0.433000														56			46		0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337316	144337316	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:144337316G>A	uc004fcb.2	+	1	201	c.201G>A	c.(199-201)ctG>ctA	p.L67L		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	67										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATCAACTGGAGAATGACC	0.438000														6			56		0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919119	66919119	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:66919119C>T	uc021tjw.1	+	0	932	c.932C>T	c.(931-933)gCc>gTc	p.A311V	PDP2_uc002eqk.2_Missense_Mutation_p.A311V	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	311					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GACCACAATGCCTGGAACCAG	0.587000														42			29		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60780969	60780969	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:60780969G>A	uc001nqq.3	+	6	1450	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	CD6_uc009yni.3_Missense_Mutation_p.G308R|CD6_uc009ynj.3_Missense_Mutation_p.G286R|CD6_uc001nqp.3_Missense_Mutation_p.G409R|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.G409R|CD6_uc001nqt.3_Missense_Mutation_p.G409R	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	409					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATCGTTCTGGGAATTCTCCT	0.458000														125			73		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154834534	154834534	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:154834534G>A	uc010hvr.1	+	5	732	c.521G>A	c.(520-522)tGg>tAg	p.W174*	MME_uc003fab.1_Nonsense_Mutation_p.W174*|MME_uc003fac.1_Nonsense_Mutation_p.W174*|MME_uc003fad.1_Nonsense_Mutation_p.W174*|MME_uc003fae.1_Nonsense_Mutation_p.W174*	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	174					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACAGAAAACTGGGAGCAAAAA	0.343000														38			21		0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75897712	75897712	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:75897712G>A	uc001sxt.3	-	6	844	c.803C>T	c.(802-804)cCa>cTa	p.P268L	KRR1_uc009zsc.3_Intron	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	268	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGGTGGGAATGGCGTATATTC	0.343000														100			61		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3046501	3046501	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:3046501C>T	uc022aqr.1	-	34	5821	c.5431G>A	c.(5431-5433)Ggt>Agt	p.G1811S	CSMD1_uc011kwj.2_Missense_Mutation_p.G1204S|CSMD1_uc003wqe.3_Missense_Mutation_p.G968S|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1812	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGATTGTACCTCTTCGTTGA	0.463000														4			12		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138264004	138264004	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:138264004C>T	uc003vuc.3	+	14	2527	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	TRIM24_uc003vub.3_Missense_Mutation_p.S737F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	771	Nuclear receptor binding site (NRBS).				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGTCAGAGCTCTACTTCTGAG	0.398000														89			56		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538479	152538479	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152538479T>C	uc021oyz.1	-	0	206	c.206A>G	c.(205-207)aAc>aGc	p.N69S	LCE3E_uc001faa.3_Missense_Mutation_p.N69S	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	69					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GTCACAGGAGTTGGACCTCTG	0.672000														68			111		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138708465	138708465	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:138708465A>G	uc011mwn.1	-	9	1014	c.1008_splice	c.e9-1	p.K336_splice	MCF2_uc004fav.3_Splice_Site_p.K191_splice|MCF2_uc004fau.3_Splice_Site_p.K191_splice|MCF2_uc010nsh.2_Splice_Site_p.K191_splice|MCF2_uc011mwm.2_Splice_Site_p.K152_splice|MCF2_uc011mwl.2_Splice_Site_p.K152_splice|MCF2_uc011mwo.1_Splice_Site_p.K251_splice|MCF2_uc004faw.2_Splice_Site_p.K251_splice	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	191					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGAGTCAGCAACCTTAAGAAA	0.338000														7			29		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124829059	124829059	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:124829059G>A	uc003ehw.4	-	8	1190	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	SLC12A8_uc003ehv.4_Missense_Mutation_p.P345S|SLC12A8_uc003eht.4_Missense_Mutation_p.P146S|SLC12A8_uc010hry.3_Missense_Mutation_p.P98S	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	345					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCAAGTGCAGGGATCACTTTC	0.488000														41			32		0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267602	150267602	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:150267602C>T	uc003qno.3	+	2	517	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ULBP2_uc011eeh.1_Silent_p.F148F|ULBP2_uc010kij.3_Silent_p.F148F	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	148	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGCAGATCTTCCTCCTCTTTG	0.507000														91			72		0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72373276	72373276	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:72373276C>T	uc003kcl.3	+	20	1919	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	FCHO2_uc011csl.2_Silent_p.I568I|FCHO2_uc010izb.3_Silent_p.I29I|FCHO2_uc011csn.2_Silent_p.I29I	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	601										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TGAAAAATATCAGCAGACTAG	0.378000														7			5		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52924566	52924566	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:52924566C>T	uc002lga.3	-	14	1492	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	TCF4_uc021ukg.1_Missense_Mutation_p.E216K|TCF4_uc021ukh.1_Missense_Mutation_p.E216K|TCF4_uc002lfw.4_Missense_Mutation_p.E216K|TCF4_uc010xdu.1_Missense_Mutation_p.E246K|TCF4_uc010xdv.1_Missense_Mutation_p.E246K|TCF4_uc021uki.1_Missense_Mutation_p.E305K|TCF4_uc002lfx.2_Missense_Mutation_p.E305K|TCF4_uc010xdw.1_Missense_Mutation_p.E246K|TCF4_uc002lfy.2_Missense_Mutation_p.E334K|TCF4_uc010xdx.1_Missense_Mutation_p.E352K|TCF4_uc021ukj.1_Missense_Mutation_p.E316K|TCF4_uc021ukk.1_Missense_Mutation_p.E316K|TCF4_uc021ukl.1_Missense_Mutation_p.E373K|TCF4_uc002lfz.2_Missense_Mutation_p.E376K|TCF4_uc010dph.1_Missense_Mutation_p.E376K|TCF4_uc010dpi.3_Missense_Mutation_p.E382K|TCF4_uc010xdy.1_Missense_Mutation_p.E352K	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	376					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGGGTCCTTCATAATTAGGA	0.418000														60			96		0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109681459	109681459	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:109681459G>A	uc003hzc.3	-	1	241	c.60C>T	c.(58-60)ccC>ccT	p.P20P	AGXT2L1_uc010imc.3_Silent_p.P20P|AGXT2L1_uc011cfm.2_5'UTR|AGXT2L1_uc011cfn.2_Intron|AGXT2L1_uc011cfo.2_Intron	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	20					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CTTTGCATGAGGGCCTAGAAA	0.428000														51			55		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995111	140995111	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:140995111C>T	uc004fbt.3	+	3	2245	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P300S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	641							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAGTCTTCCCCAGAGTTT	0.567000										HNSCC(15;0.026)				36			172		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656437	40656437	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:40656437C>T	uc002rrx.3	-	0	1008	c.984G>A	c.(982-984)agG>agA	p.R328R	SLC8A1_uc002rry.3_Silent_p.R328R|SLC8A1_uc002rsb.2_Silent_p.R328R|SLC8A1_uc002rrz.3_Silent_p.R328R|SLC8A1_uc002rsa.3_Silent_p.R328R|SLC8A1_uc002rsd.4_Silent_p.R328R|SLC8A1_uc010fan.1_Silent_p.R328R|SLC8A1_uc002rsc.1_Silent_p.R328R	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	328					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R328R(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTCAGAATCCTAGCCATTT	0.403000														105			77		0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16850796	16850796	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:16850796C>T	uc003wxc.1	-	2	554	c.421G>A	c.(421-423)Gag>Aag	p.E141K	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	141					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCAAACTGCTCCCTAAAGATG	0.348000														101			70		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732620	37732620	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:37732620G>A	uc003xkm.2	-	2	1091	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	RAB11FIP1_uc003xkn.2_Silent_p.S345S|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.S193S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	345					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGCCCTTGGGGGATGGGGAGG	0.542000														174			101		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107090072	107090072	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:107090072C>T	uc001tlt.3	+	7	848	c.708C>T	c.(706-708)ttC>ttT	p.F236F	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.F227F|RFX4_uc010swv.2_Intron|RFX4_uc001tls.3_Silent_p.F236F|RFX4_uc001tlv.3_Silent_p.F133F	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	227					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TTCAAAGTTTCCTTCTGCACT	0.547000														38			46		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104066992	104066992	+	Silent	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:104066992T>G	uc003hxb.1	-	29	4497	c.4407A>C	c.(4405-4407)gtA>gtC	p.V1469V	CENPE_uc003hxc.1_Silent_p.V1444V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1469					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTACTTTAGCTACAATTTCTT	0.308000														52			38		0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21488736	21488736	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21488736G>T	uc001vyy.3	-	8	624	c.474C>A	c.(472-474)aaC>aaA	p.N158K	NDRG2_uc010tll.2_Missense_Mutation_p.N154K|NDRG2_uc001vyt.3_Missense_Mutation_p.N71K|NDRG2_uc001vyu.3_Intron|NDRG2_uc001vyv.3_Missense_Mutation_p.N144K|NDRG2_uc001vyw.3_Missense_Mutation_p.N144K|NDRG2_uc001vzb.3_Missense_Mutation_p.N98K|NDRG2_uc001vyx.3_Missense_Mutation_p.N158K|NDRG2_uc001vza.3_Missense_Mutation_p.N144K|NDRG2_uc001vyz.3_Missense_Mutation_p.N144K|NDRG2_uc001vzc.3_Missense_Mutation_p.N144K|NDRG2_uc010aig.3_Missense_Mutation_p.N158K|NDRG2_uc001vze.3_Missense_Mutation_p.N158K|NDRG2_uc001vzd.3_Missense_Mutation_p.N158K|NDRG2_uc001vzg.3_Missense_Mutation_p.N144K|NDRG2_uc001vzf.3_Missense_Mutation_p.N144K	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	158					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGTCCGGGTGGTTAAGCTGAG	0.567000														15			6		3.59834e-05	3.605e-05	1	1	0
CFHR5	81494	broad.mit.edu	37	1	196952032	196952032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:196952032C>T	uc001gts.4	+	1	204	c.76C>T	c.(76-78)Cca>Tca	p.P26S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	26	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGTGATTTTCCAAAAATACA	0.308000														36			55		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185880852	185880852	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:185880852C>T	uc001grq.1	+	5	1069	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	280					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATTAAATATCCATAACTCTG	0.383000														96			123		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54933881	54933881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:54933881C>T	uc003dhf.3	+	26	2483	c.2435C>T	c.(2434-2436)tCt>tTt	p.S812F	CACNA2D3_uc003dhg.1_Missense_Mutation_p.S718F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	812						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GAACGGAAATCTCCTGTGGTG	0.448000														11			7		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130860	45130860	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:45130860C>T	uc002xsa.3	-	3	1649	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	ZNF334_uc002xsb.3_Missense_Mutation_p.G335E|ZNF334_uc002xsd.3_Missense_Mutation_p.G335E|ZNF334_uc002xsc.3_Missense_Mutation_p.G373E|ZNF334_uc010ghl.3_Missense_Mutation_p.G372E			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGGCTTCTCTCCTCTGTGAGT	0.443000														128			93		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745606	30745606	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:30745606C>T	uc002wxj.2	+	13	1574	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	TM9SF4_uc010zts.1_Missense_Mutation_p.P354S|TM9SF4_uc002wxk.2_Missense_Mutation_p.P430S	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	447						integral to membrane		p.L446L(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTGCCCTTTCCCACCATGGT	0.627000														74			55		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375835	175375835	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:175375835C>T	uc001gkp.1	-	0	97	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TNR_uc009wwu.1_Missense_Mutation_p.E6K|TNR_uc010pmz.1_Missense_Mutation_p.E6K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	6					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCACTGTTTCCCCATCTGCC	0.532000														66			89		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133389	104133389	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104133389G>A	uc010mtd.3	-	1	407	c.298C>T	c.(298-300)Cct>Tct	p.P100S	BAAT_uc004bbd.4_Missense_Mutation_p.P100S	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	100					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ACCTGGAAAGGCCTATTCATC	0.433000														55			46		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581512	82581512	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82581512C>T	uc003uhx.2	-	4	9046	c.8757G>A	c.(8755-8757)gtG>gtA	p.V2919V	PCLO_uc003uhv.2_Silent_p.V2919V|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2850					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						TTTTGGTCATCACACTTGAAG	0.433000														104			64		0	0	1	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92109213	92109213	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:92109213G>A	uc010osx.2	+	2	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		TGGCAACACGGAGAGAATCAT	0.473000														47			16		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527595	23527595	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:23527595G>A	uc003jgo.3	+	10	2580	c.2398G>A	c.(2398-2400)Ggg>Agg	p.G800R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	800					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G800V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GACACACACAGGGGAGAAGCC	0.567000										HNSCC(3;0.000094)				96			80		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97102570	97102570	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:97102570C>T	uc021rcc.1	+	14	2066	c.1988C>T	c.(1987-1989)cCa>cTa	p.P663L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	663										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CCAAACCTACCAAACTTGGAA	0.358000														31			32		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37606088	37606088	+	Splice_Site	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:37606088A>T	uc003onu.1	-	16	3847	c.2668_splice	c.e16-1	p.I890_splice	MDGA1_uc003onv.1_Splice_Site_p.I159_splice	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	890	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTCAAAAATAATCTGGGGTGG	0.572000														28			6		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940513	113940513	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:113940513C>T	uc002tjc.3	+	1	663	c.480C>T	c.(478-480)atC>atT	p.I160I	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.I159I|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	160					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCAGGCATCCTGCAGGCCC	0.607000														65			37		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157551398	157551398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:157551398C>T	uc001fqw.3	-	6	1308	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	391						integral to membrane|plasma membrane	receptor activity	p.A390T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCCAGTGGCTCCCGCGGCGAC	0.572000														53			24		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151962208	151962208	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151962208G>A	uc003wla.3	-	7	1318	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	367					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.H367Y(3)|p.Y366S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACATTCCATGATAGTGCTGA	0.448000			N		medulloblastoma									336			19		0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214555	11214555	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:11214555G>A	uc001qzp.1	-	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	113					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TAAGGTTGGAGAAATTGGCAA	0.373000														93			67		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159302	118159302	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:118159302G>A	uc003yoh.3	+	1	411	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SLC30A8_uc010mcz.3_Missense_Mutation_p.E12K|SLC30A8_uc003yog.3_Missense_Mutation_p.E12K|SLC30A8_uc011lia.2_Missense_Mutation_p.E12K|SLC30A8_uc022bab.1_Missense_Mutation_p.E12K	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	61					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAAGCCCACAGAAAAGGGGGC	0.507000														77			46		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218329	130218329	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:130218329G>A	uc004evz.3	+	4	1041	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ARHGAP36_uc004ewa.3_Silent_p.A220A|ARHGAP36_uc004ewb.3_Silent_p.A201A|ARHGAP36_uc004ewc.3_Silent_p.A96A	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	232	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A232V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATCCGATTGCGAAACAAATCC	0.468000														1			26		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347349	91347349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:91347349G>A	uc001tbj.3	-	0	1605	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	391										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GGCACTTTGGGAATTATCTGC	0.413000														43			37		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887005	25887005	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:25887005C>T	uc001isj.3	+	10	2510	c.2450C>T	c.(2449-2451)tCc>tTc	p.S817F	GPR158_uc001isk.3_Missense_Mutation_p.S192F	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	817						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTCAAGAAATCCCACAGCACT	0.512000														124			79		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109273354	109273354	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:109273354G>A	uc001dvx.3	+	8	1683	c.1683G>A	c.(1681-1683)gtG>gtA	p.V561V	FNDC7_uc010ova.2_Silent_p.V328V	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	562	Fibronectin type-III 7.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TAATCAACGTGAGCTGGACTA	0.448000														66			112		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213787	3213787	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3213787C>T	uc002fvi.2	+	0	249	c.183C>T	c.(181-183)ccC>ccT	p.P61P						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TCCACAGCCCCATGTACTTCT	0.527000														48			37		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61766054	61766054	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:61766054C>T	uc003xue.3	+	30	7262	c.6770C>T	c.(6769-6771)cCc>cTc	p.P2257L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2257	Glu-rich.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCTTCCCAGCCCGAAGGTAAG	0.542000														46			20		0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110744	20110744	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:20110744G>A	uc003wzr.3	-	1	809	c.698C>T	c.(697-699)tCc>tTc	p.S233F	LZTS1_uc010ltg.2_Missense_Mutation_p.S233F	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	233					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACCTCCGTCGGAGAAGGACAG	0.627000														32			36		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417050	63417050	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:63417050G>A	uc001xfx.3	-	6	1221	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y	KCNH5_uc001xfy.3_Silent_p.Y390Y|KCNH5_uc001xfz.1_Silent_p.Y332Y|KCNH5_uc001xga.3_Silent_p.Y332Y	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	390					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAGCCAGCTGGTAGAGCCAAC	0.507000														8			45		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870211	36870211	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:36870211G>A	uc002xhy.1	-	2	594	c.322C>T	c.(322-324)Caa>Taa	p.Q108*	KIAA1755_uc002xhz.1_Nonsense_Mutation_p.Q108*	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	108										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTCCACTTGGAGGTAGAAG	0.562000														69			46		0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13775886	13775886	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:13775886C>T	uc004cvp.4	+	13	1878	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	OFD1_uc004cvr.4_Silent_p.L74L|OFD1_uc011mil.2_Silent_p.L74L|OFD1_uc004cvq.4_Silent_p.L367L|OFD1_uc010nen.3_Silent_p.L506L|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Silent_p.L466L|OFD1_uc004cvv.4_Silent_p.L466L	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	507					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CAGGCAAGCTCTGCACAAACA	0.458000														1			15		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121745873	121745873	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:121745873G>A	uc010flp.3	+	12	2413	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K	GLI2_uc002tmq.1_Missense_Mutation_p.E467K|GLI2_uc002tmr.1_Missense_Mutation_p.E450K|GLI2_uc002tmt.4_Missense_Mutation_p.E467K|GLI2_uc002tmu.4_Missense_Mutation_p.E450K	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	795	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GTCCGCGAGCGAGGTGACCAT	0.716000														2			9		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216073536	216073536	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:216073536G>A	uc001hku.1	-	39	7862	c.7475C>T	c.(7474-7476)tCg>tTg	p.S2492L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2492	Fibronectin type-III 11.				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)		ATAGCTTAACGATGCAGAAGG	0.368000										HNSCC(13;0.011)				41			49		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498021	179498021	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179498021C>T	uc021vsy.1	-	181	35500	c.35275G>A	c.(35275-35277)Gga>Aga	p.G11759R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5454R|TTN_uc021vta.1_Missense_Mutation_p.G5387R|TTN_uc021vtb.1_Missense_Mutation_p.G5262R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12686	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A11759A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTCTACTCCGTACAGAGGC	0.408000														74			55		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111096	81111096	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81111096G>A	uc001szg.2	+	0	389	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R85W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGGATCGGCGGAAGGCAGCC	0.627000														24			31		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101552	81101552	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81101552A>T	uc001szf.2	+	0	145	c.54A>T	c.(52-54)gaA>gaT	p.E18D		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	18					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.G17G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGGATGGGGAAAATGTTACTC	0.507000														59			41		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692590	135692590	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:135692590G>A	uc003lbn.2	-	1	708	c.486C>T	c.(484-486)tcC>tcT	p.S162S	TRPC7_uc010jef.2_Silent_p.S153S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.S162S|TRPC7_uc010jei.2_Silent_p.S162S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	162					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGATGTCGTGGGAGAAGCGCG	0.672000														89			58		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636221	74636221	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:74636221G>A	uc002axt.2	-	3	893	c.738C>T	c.(736-738)ccC>ccT	p.P246P	CYP11A1_uc002axs.2_Silent_p.P88P|CYP11A1_uc010bjm.1_Silent_p.P88P|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Silent_p.P26P	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	246					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGTTGAGCATGGGGACGCTGG	0.557000														84			77		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302151	128302151	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:128302151G>A	uc003kuy.3	+	1	717	c.321G>A	c.(319-321)acG>acA	p.T107T	SLC27A6_uc003kuz.3_Silent_p.T107T	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	107					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.T107T(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGGGGACACGGTGGCTCTGC	0.542000														22			16		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250208	177250208	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:177250208G>A	uc001glf.3	+	7	2208	c.1896G>A	c.(1894-1896)ggG>ggA	p.G632G	FAM5B_uc001glg.3_Silent_p.G527G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	632						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCACCTTGGGGAATAGGTGGA	0.502000														28			59		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47233932	47233932	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:47233932C>T	uc002ion.2	+	4	704	c.645C>T	c.(643-645)ctC>ctT	p.L215L	B4GALNT2_uc010wlt.1_Silent_p.L129L|B4GALNT2_uc010wlu.1_Silent_p.L155L	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	215					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTCCAGGCCTCCAGTTTGAAG	0.562000														53			35		0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97007851	97007851	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:97007851C>T	uc002svz.1	+	2	420	c.336C>T	c.(334-336)tcC>tcT	p.S112S	NCAPH_uc010fhu.1_Silent_p.S88S|NCAPH_uc010fhv.1_Silent_p.S101S|NCAPH_uc010yum.1_Silent_p.S88S|NCAPH_uc010yun.1_5'UTR	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	112					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AACATTACTCCACCTGTATCA	0.383000														31			28		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416297	105416297	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:105416297G>A	uc010axc.1	-	6	5611	c.5491C>T	c.(5491-5493)Ccg>Tcg	p.P1831S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1731S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1831						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.612000														263			26		0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201876190	201876190	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:201876190G>A	uc002uws.4	-	5	527	c.339C>T	c.(337-339)atC>atT	p.I113I	FAM126B_uc002uwu.3_Silent_p.I31I|FAM126B_uc002uwv.3_Silent_p.I113I|FAM126B_uc002uww.1_Silent_p.I113I	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	113						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTTATCAGCGATTTCCTATA	0.308000														15			12		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94316683	94316683	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:94316683C>T	uc001pfa.3	+	4	794	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	195					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.E194E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAAGAGGGAGCTGCCATCAAG	0.418000														116			78		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188156	7188156	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7188156C>T	uc010sfy.2	-	8	1623	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	600	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.A522T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCTTCTCCTCCATGACCCCG	0.557000														20			27		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619313	141619313	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141619313C>T	uc003vwu.1	+	0	638	c.638C>T	c.(637-639)cCt>cTt	p.P213L		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P213S(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCTTTGATCCCTACAATTGTC	0.463000														78			50		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20844358	20844358	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20844358G>A	uc001vxe.3	-	41	6194	c.6154C>T	c.(6154-6156)Ccc>Tcc	p.P2052S	TEP1_uc010ahk.3_Missense_Mutation_p.P1395S|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P1944S|TEP1_uc010tlh.1_Missense_Mutation_p.P390S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2052					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGCCACAGGGAAAGTCTTCT	0.607000														70			35		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915099	176915099	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176915099C>T	uc001glc.3	-	12	2424	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	ASTN1_uc001glb.1_Missense_Mutation_p.E738K|ASTN1_uc001gld.1_Missense_Mutation_p.E738K|ASTN1_uc009wwx.1_Missense_Mutation_p.E738K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	746					cell migration|neuron cell-cell adhesion	integral to membrane		p.K737K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCAGCCACTTCCTTGGAATGG	0.473000														168			64		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458716	179458716	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179458716C>T	uc021vsy.1	-	245	50925	c.50700G>A	c.(50698-50700)agG>agA	p.R16900R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R10595R|TTN_uc021vta.1_Silent_p.R10528R|TTN_uc021vtb.1_Silent_p.R10403R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17827	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACCTTTCCTAGAGCCTG	0.388000														97			61		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263078	140263078	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140263078C>T	uc003lif.2	+	0	1225	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.L409L|PCDHAC2_uc003lid.3_Silent_p.L409L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	423	Cadherin 4.				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)			CTCATTAGTGCTGGACAGCGC	0.617000														206			33		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324524	61324524	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61324524C>T	uc002lji.3	-	5	736	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SERPINB3_uc002ljg.3_Missense_Mutation_p.E198K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E198K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	198					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E197Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CAAAATTTTTCCTCTTTAGTA	0.294000														32			40		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159272169	159272169	+	Missense_Mutation	SNP	G	A	A	rs142102904		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159272169G>A	uc001ftq.3	+	1	112	c.15G>A	c.(13-15)atG>atA	p.M5I		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	5						integral to plasma membrane		p.M5I(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTCCTGCCATGGAATCCCCTA	0.473000														239			84		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18661491	18661491	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:18661491C>T	uc001bau.2	+	3	794	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	137						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCAACATCTTCCTCAACGTCA	0.592000														3			18		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962910	69962910	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69962910C>T	uc003heg.4	+	0	718	c.672C>T	c.(670-672)ttC>ttT	p.F224F	UGT2B7_uc010ihq.3_Silent_p.F224F	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	224					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTTTTGGTTCGAAATATTTG	0.323000														50			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477793	179477793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179477793G>A	uc021vsy.1	-	213	42176	c.41951C>T	c.(41950-41952)cCa>cTa	p.P13984L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7679L|TTN_uc021vta.1_Missense_Mutation_p.P7612L|TTN_uc021vtb.1_Missense_Mutation_p.P7487L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14911	Ig-like 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I13984I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGGGGCCATGGAGGATCTGC	0.368000														34			21		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165351035	165351035	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:165351035C>T	uc002ucl.3	-	13	1924	c.1383_splice	c.e13-1	p.G461_splice	GRB14_uc010zcv.2_Splice_Site_p.G374_splice	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	461	SH2.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CAAGAAAACTCTAAAGAGAGA	0.328000														37			27		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100179	110100179	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110100179C>T	uc003ymz.4	+	0	527	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	146						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AAAAGATTATCATCTTTGTCT	0.408000														46			29		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186680154	186680154	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:186680154G>A	uc002upl.3	+	18	20649	c.20649G>A	c.(20647-20649)atG>atA	p.M6883I	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAGAATTATGAGTTCATCTT	0.323000														31			31		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883926	228883926	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228883926G>A	uc002vpq.2	-	6	1691	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	SPHKAP_uc002vpp.2_Silent_p.S548S|SPHKAP_uc010zlx.1_Silent_p.S548S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	548						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCATTGATGGAAGGTTCCT	0.527000														90			64		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74396598	74396598	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:74396598T>C	uc002jrm.4	-	6	993	c.928A>G	c.(928-930)Acc>Gcc	p.T310A	UBE2O_uc002jrn.4_Missense_Mutation_p.T310A|UBE2O_uc002jrl.4_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	310							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AAACTCTTGGTAATCCATGTA	0.577000														12			15		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899152	112899152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:112899152C>T	uc004bei.2	+	8	2216	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S443L|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S443L|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.S253L|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.S301L|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.S301L|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.S261L|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.S212L|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.S212L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	212							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTGAGGCCTTCAGAGGAGATG	0.517000														50			24		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189198	103189198	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:103189198C>T	uc003hwb.1	-	5	1408	c.879G>A	c.(877-879)aaG>aaA	p.K293K	SLC39A8_uc011ceo.1_Silent_p.K293K|SLC39A8_uc003hwa.1_Silent_p.K226K|SLC39A8_uc003hwc.2_Silent_p.K293K	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	293						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GTTTGGGCCCCTTCAAACAGG	0.438000														61			32		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104492139	104492139	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:104492139C>T	uc001tkj.4	+	12	1862	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	587	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCAAATCCAGTGGCCAC	0.348000														33			26		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349245	100349245	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:100349245C>T	uc003huv.2	-	4	624	c.383_splice	c.e4+1	p.D128_splice	ADH7_uc021xqj.1_Splice_Site_p.D136_splice	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	128					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GAAACCTACTCGCTCCTAATG	0.343000														67			52		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57741518	57741518	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:57741518C>T	uc002emi.3	+	6	1094	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	CCDC135_uc002emj.3_Silent_p.F335F|CCDC135_uc002emk.3_Silent_p.F270F	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	335						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATGAGCACTTCCTGGGCATCG	0.562000														21			17		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75898081	75898081	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:75898081C>T	uc021zbv.1	-	6	1029	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E332K|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	332					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TACTCACCTTCTTCTCCACTA	0.368000														55			56		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233514	57233514	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:57233514C>T	uc001cym.4	-	4	1457	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	351										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCAGCAATTTCTTTTGCAGTG	0.373000														83			27		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186335000	186335000	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:186335000T>G	uc003fqk.4	+	3	515	c.434T>G	c.(433-435)gTg>gGg	p.V145G	AHSG_uc003fqj.3_Missense_Mutation_p.V145G	NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	145	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTGCGCAAGGTGTGCCAAGAC	0.652000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			41		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998691	27998691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:27998691G>A	uc004dbx.1	-	0	876	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	254										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCCAGAGTGGAATCACCACA	0.483000														7			42		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15247221	15247221	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:15247221G>A	uc001mlz.3	+	8	1128	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	INSC_uc001mly.3_Silent_p.G386G|INSC_uc001mma.3_Silent_p.G339G|INSC_uc010rcs.2_Silent_p.G374G|INSC_uc001mmb.3_Silent_p.G339G|INSC_uc001mmc.3_Silent_p.G297G	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	386					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCTCATCAGGGGAAGTCTTCC	0.493000														23			8		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863590	55863590	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55863590G>A	uc010spn.2	-	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAGCTAGAAGGAAAAATTCTG	0.388000														50			33		0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563736	51563736	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:51563736G>A	uc002pvn.3	-	1	236	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.L65L|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Silent_p.L65L	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	65	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.V64I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTGGACCAGGACTCCCCCA	0.617000														45			33		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271740	59271740	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59271740G>A	uc001noa.1	+	0	692	c.692G>A	c.(691-693)gGg>gAg	p.G231E		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G231R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGGCAGGAGGGGGCAGGAGG	0.537000														130			79		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687772	61687772	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:61687772G>A	uc002eog.2	-	11	3095	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	714					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTGGAACTGGAGCAAGCCCT	0.408000														71			74		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558299	159558299	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159558299C>T	uc001ftv.3	+	1	569	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	158	Pentaxin.		S -> G.		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GAACAGGATTCCTATGGGGGC	0.502000														46			46		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4859884	4859884	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4859884C>T	uc003bqc.3	+	58	8291	c.7941C>T	c.(7939-7941)acC>acT	p.T2647T	ITPR1_uc021wsi.1_Silent_p.T2614T|ITPR1_uc021wsj.1_Silent_p.T2599T|ITPR1_uc011asu.2_Silent_p.T625T|ITPR1_uc010hcc.2_Silent_p.T382T|ITPR1_uc011asv.2_Silent_p.T338T	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2662					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGACTCCACCGAATATACTG	0.498000														30			12		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848526	5848526	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:5848526C>T	uc001qnm.2	-	12	1451	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	465						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTAGCCCAGTCGCATCTGTAG	0.418000														7			4		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924510	45924510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:45924510C>T	uc001nbr.3	+	4	1517	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	398					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity	p.R397Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GAGCCTGCGGCCGTGCTTCGG	0.592000														14			11		0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30078227	30078227	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30078227C>T	uc003npg.1	-	3	852	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	248						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GGACTCACCTCCAGCAGCTGC	0.542000														107			43		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325136	79325136	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:79325136G>A	uc010mpk.3	-	7	2178	c.2054C>T	c.(2053-2055)tCa>tTa	p.S685L	PRUNE2_uc022bih.1_Missense_Mutation_p.S507L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	685					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.S685*(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCTTTCCATGATTCAGGGCT	0.473000														27			16		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152427053	152427053	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152427053G>A	uc021vrb.1	-	78	12002	c.11973C>T	c.(11971-11973)atC>atT	p.I3991I	NEB_uc002txr.3_Silent_p.I457I|NEB_uc002txu.3_Silent_p.I5692I|NEB_uc021vrc.1_Silent_p.I5692I|NEB_uc010fnx.3_Silent_p.I3979I|NEB_uc021vrd.1_Silent_p.I3991I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3991					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		CCTGGATGGGGATGGCATCCA	0.488000														9			6		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780774	88780774	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:88780774G>A	uc001pcq.3	-	0	467	c.267C>T	c.(265-267)atC>atT	p.I89I	GRM5_uc009yvm.3_Silent_p.I89I|GRM5_uc009yvn.2_Silent_p.I89I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	89					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.I89I(3)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCCCAGTGTGATGTTGGGCA	0.527000														30			21		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25373588	25373588	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:25373588C>T	uc001upr.3	+	11	1496	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	RNF17_uc010tdd.1_Silent_p.I344I|RNF17_uc010tde.2_Silent_p.I485I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.I424I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	485					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAGGAACTATCACAGAATTAA	0.323000														62			41		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993368	140993368	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:140993368G>A	uc004fbt.3	+	3	502	c.178G>A	c.(178-180)Ggg>Agg	p.G60R	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	60							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTTCTGAGGGGGAGGACTC	0.602000										HNSCC(15;0.026)				5			85		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054151	67054151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:67054151C>T	uc003dmy.3	+	2	813	c.760C>T	c.(760-762)Cca>Tca	p.P254S	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	254	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAGAAAATTCCACCTCAGTT	0.413000														57			51		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107456920	107456920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:107456920G>A	uc011lvs.2	+	0	218	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATCCTCCTGGGAAATAGCCTC	0.448000														171			94		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53674968	53674968	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:53674968C>T	uc002ehp.3	-	18	2999	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N	RPGRIP1L_uc002eho.4_Missense_Mutation_p.D979N|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.D979N|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.D979N|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.D979N	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	979					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGCATGATATCCACGAAAGAT	0.343000														32			21		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28711771	28711771	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28711771T>C	uc002kwn.3	-	14	2535	c.2273A>G	c.(2272-2274)aAc>aGc	p.N758S	DSC1_uc002kwm.3_Missense_Mutation_p.N758S|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	758					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)			GTCACAAATGTTGGATGTCTG	0.378000														105			39		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15730005	15730005	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:15730005C>T	uc001ioc.1	-	2	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	ITGA8_uc010qcb.1_Missense_Mutation_p.E126K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	126					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E126Q(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCGATAGGTTCTTTGGTTCCA	0.388000														49			37		0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572632	104572632	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:104572632C>T	uc001kwf.4	+	3	720	c.636C>T	c.(634-636)gcC>gcT	p.A212A	WBP1L_uc009xxg.1_Intron|WBP1L_uc001kwe.4_Silent_p.A191A	NM_001083913	NP_001077382	Q9NX94	OPA1L_HUMAN	Homo sapiens chromosome 10 open reading frame 26 (C10orf26), transcript variant 1, mRNA.	191						integral to membrane											CCACCAAAGCCCCAGGGATGG	0.627000														27			27		0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57851153	57851153	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:57851153C>T	uc002ixu.4	+	6	894	c.621C>T	c.(619-621)ttC>ttT	p.F207F	VMP1_uc010wog.2_Silent_p.F15F|VMP1_uc010woh.2_Silent_p.F151F|VMP1_uc010woi.2_Silent_p.F110F|VMP1_uc010woj.2_Silent_p.F73F	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.	207					autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTCCATATTTCATGGCCAGAG	0.438000														33			24		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24432568	24432568	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:24432568C>T	uc001bin.4	-	5	566	c.403_splice	c.e5-1	p.T135_splice	MYOM3_uc001bio.3_Splice_Site_p.T135_splice|MYOM3_uc001bip.1_Splice_Site	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	135										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTCCTCTGTCTGGAGGCGGG	0.622000														16			25		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85066330	85066330	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:85066330C>T	uc010ysl.2	-	3	1023	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	C2orf89_uc002sou.4_Missense_Mutation_p.V263M|C2orf89_uc002sov.3_Non-coding_Transcript|C2orf89_uc010fgc.2_Missense_Mutation_p.V312M	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	312						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						AGGGCCTTCACCCGCTTCCCT	0.537000														41			19		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427460	21427460	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:21427460C>T	uc001rer.3	-	12	1987	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	SLCO1A2_uc010siq.2_Missense_Mutation_p.G447E|SLCO1A2_uc001res.3_Missense_Mutation_p.G579E|SLCO1A2_uc010sio.2_Missense_Mutation_p.G447E|SLCO1A2_uc010sip.2_Missense_Mutation_p.G447E	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	579					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTTCAAAGTTCCCCAGTGTAA	0.363000														58			38		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284667	46284667	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:46284667T>C	uc002ldd.3	+	8	1321	c.962T>C	c.(961-963)gTt>gCt	p.V321A	CTIF_uc002ldc.3_Missense_Mutation_p.V321A|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	321					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGCCAGAGGTTGAGACAAAA	0.632000														230			91		0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46593244	46593244	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:46593244A>G	uc003oyf.1	-	7	1045	c.841_splice	c.e7-1	p.V281_splice	CYP39A1_uc011dwa.1_Splice_Site_p.V261_splice|CYP39A1_uc010jzd.1_Splice_Site_p.V109_splice	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	281					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCAAAATGCAACCTTAAAAAG	0.328000														71			26		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112517	145112517	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145112517G>A	uc003zar.3	-	9	1338	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_3'UTR	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	419							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGCCTCAGGGGAAAGTGGTTG	0.657000														4			6		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44485521	44485521	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:44485521G>A	uc002zcu.2	-	6	887	c.642C>T	c.(640-642)atC>atT	p.I214I	CBS_uc002zcs.1_Silent_p.I109I|CBS_uc002zct.2_Silent_p.I214I|CBS_uc002zcw.3_Silent_p.I214I|CBS_uc002zcv.2_Silent_p.I214I	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	214					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GAGAATTGGGGATTTCGTTCT	0.627000														30			28		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151234635	151234635	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:151234635C>T	uc003lut.3	-	5	950	c.663G>A	c.(661-663)aaG>aaA	p.K221K	GLRA1_uc003lur.3_Silent_p.K221K|GLRA1_uc003lus.3_Silent_p.K138K	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	221					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATCTCAAGTCCTTCTCTTCCT	0.517000														45			40		0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25638541	25638541	+	Silent	SNP	G	T	T	rs139922584		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:25638541G>T	uc002gzd.1	+	7	1321	c.1005G>T	c.(1003-1005)gtG>gtT	p.V335V	WSB1_uc002gze.1_Silent_p.V189V|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	335					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCAGAATGGTGAGGTTCTGGA	0.353000														29			27		6.38683e-12	6.4416e-12	1	1	0
ATP2B4	493	broad.mit.edu	37	1	203672833	203672833	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:203672833G>A	uc001gzw.3	+	7	1888	c.991G>A	c.(991-993)Gga>Aga	p.G331R	ATP2B4_uc001gzv.3_Missense_Mutation_p.G331R|ATP2B4_uc009xaq.3_Missense_Mutation_p.G331R	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	331					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGCCAGGAGGGAATCGACAA	0.537000														58			84		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692461	135692461	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:135692461C>T	uc003lbn.2	-	1	837	c.615G>A	c.(613-615)gaG>gaA	p.E205E	TRPC7_uc010jef.2_Silent_p.E196E|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.E205E|TRPC7_uc010jei.2_Silent_p.E205E	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	205					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCGCTGTTTCTCGGTGCACT	0.602000														43			34		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031486	79031486	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79031486G>A	uc003kgc.3	+	1	6970	c.6898G>A	c.(6898-6900)Gaa>Aaa	p.E2300K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2300						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CGATTCAGAGGAAATGAACAT	0.348000														92			58		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55962427	55962427	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:55962427G>A	uc003has.3	-	18	2999	c.2697C>T	c.(2695-2697)gtC>gtT	p.V899V	KDR_uc003hat.1_Silent_p.V899V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	899	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGAAGGTTGACCACATTGA	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				40			27		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997965	115997965	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:115997965C>T	uc003ibu.3	-	1	907	c.228G>A	c.(226-228)acG>acA	p.T76T	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	76	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAGTAGGGTCCGTTTTGGATG	0.418000														57			53		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155206068	155206068	+	Nonsense_Mutation	SNP	G	A	A	rs121908309		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155206068G>A	uc001fjh.3	-	7	1358	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Nonsense_Mutation_p.R349*|GBA_uc010pfw.2_Nonsense_Mutation_p.R285*|GBA_uc001fjl.3_Nonsense_Mutation_p.R398*|GBA_uc001fjk.3_Nonsense_Mutation_p.R398*|GBA_uc010pfy.2_Nonsense_Mutation_p.R311*	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	398			R -> Q (in GD; mild).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGCATCCCTCGATCCCAGGAG	0.572000									Gaucher disease type I					51			19		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113736850	113736850	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:113736850A>T	uc001vsu.3	+	16	2156	c.2156A>T	c.(2155-2157)cAc>cTc	p.H719L	MCF2L_uc001vsq.3_Missense_Mutation_p.H719L|MCF2L_uc010tjr.2_Missense_Mutation_p.H662L|MCF2L_uc001vsr.3_Missense_Mutation_p.H666L|MCF2L_uc001vss.4_Missense_Mutation_p.H660L|MCF2L_uc010tjs.2_Missense_Mutation_p.H660L|MCF2L_uc001vst.1_Missense_Mutation_p.H624L	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	692	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TATCACTTCCACAACAGGTGG	0.562000														10			9		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175272	139175272	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139175272C>T	uc003qif.2	+	9	1504	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ECT2L_uc021zfx.1_Silent_p.F393F|ECT2L_uc011edq.1_Silent_p.F324F	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	393					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGACTTCTTCGTGCCCCTTG	0.473000			"""N, Splice, Mis"""		ETP ALL									112			113		0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225006	26225006	+	Missense_Mutation	SNP	A	G	G	rs145954023		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:26225006A>G	uc003sxq.3	+	3	1960	c.1688A>G	c.(1687-1689)aAt>aGt	p.N563S		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	563					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GATTCTTTCAATAGCATGTTA	0.413000														56			45		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347943	140347943	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140347943T>A	uc003lii.3	+	0	2197	c.1592T>A	c.(1591-1593)cTt>cAt	p.L531H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.L531H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	531	Cadherin 5.				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)			AGTGGCAGCCTTTATGCTGTC	0.522000														73			40		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371745	240371745	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:240371745C>T	uc010pye.2	+	5	3870	c.3645C>T	c.(3643-3645)ccC>ccT	p.P1215P	FMN2_uc010pyd.2_Silent_p.P1211P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1211	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACCTCCTCCCTTGCCAGGTA	0.642000														10			14		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35244085	35244085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:35244085G>A	uc011kas.2	-	6	1480	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	334						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						ACCTTACCTCGATTTGGGGTT	0.527000														15			19		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057934	53057934	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53057934C>T	uc010epq.1	+	4	1942	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGACTTCATACTGGAGA	0.368000														65			53		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190195314	190195314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:190195314G>A	uc001gse.1	-	5	1091	c.859C>T	c.(859-861)Cca>Tca	p.P287S	FAM5C_uc010pot.1_Missense_Mutation_p.P185S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	287						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGCATTCTGGAAATTTGGGA	0.438000														35			48		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30254666	30254666	+	Missense_Mutation	SNP	G	A	A	rs78126822		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:30254666G>A	uc002kxm.1	-	8	2229	c.1841C>T	c.(1840-1842)gCc>gTc	p.A614V		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	614						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTCACACAGGCAGGGCCTGC	0.468000														120			147		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245121	238245121	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:238245121C>T	uc002vwl.2	-	39	8907	c.8622G>A	c.(8620-8622)acG>acA	p.T2874T	COL6A3_uc002vwo.2_Silent_p.T2668T|COL6A3_uc010znj.1_Silent_p.T2267T|COL6A3_uc002vwj.2_Silent_p.T255T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2874	Nonhelical region.|Thr-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCGGCTTCGTTGTCGTCA	0.433000														102			70		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43322722	43322722	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43322722G>A	uc003oux.3	-	3	2428	c.2350C>T	c.(2350-2352)Ccc>Tcc	p.P784S	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	784					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAGGCAGGGGGAATGGCAGGT	0.532000														87			43		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166868650	166868650	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:166868650G>A	uc002udo.4	-	20	4075	c.3848C>T	c.(3847-3849)gCc>gTc	p.A1283V	SCN1A_uc010fpk.3_Missense_Mutation_p.A1255V|SCN1A_uc021vsb.1_Missense_Mutation_p.A1272V	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1283						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCAACACCAGGCATTGGTGAA	0.348000														58			33		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222142	8222142	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:8222142G>A	uc002glc.3	+	11	2102	c.1947G>A	c.(1945-1947)ggG>ggA	p.G649G	ARHGEF15_uc002gld.3_Silent_p.G649G|ARHGEF15_uc010vuw.2_Silent_p.G538G	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	649					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCGGAGGGGGGGCGTGCTCT	0.647000														142			108		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512182	47512182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:47512182G>A	uc001cqt.3	+	8	1367	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	CYP4X1_uc001cqr.3_Missense_Mutation_p.E372K|CYP4X1_uc001cqs.3_Missense_Mutation_p.E308K	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	373						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GTGCATCAAGGAGACGTGCCG	0.493000														45			53		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13756547	13756547	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:13756547A>G	uc002woj.3	-	2	1115	c.1007T>C	c.(1006-1008)tTa>tCa	p.L336S	ESF1_uc002wok.1_Missense_Mutation_p.L336S	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	336				L -> S (in Ref. 2; BAA91123).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATCTTTATCTAATTCTCTCCA	0.378000														91			57		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984130	5984130	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5984130C>T	uc010cli.3	+	1	531	c.152C>T	c.(151-153)cCc>cTc	p.P51L	WSCD1_uc002gcn.3_Missense_Mutation_p.P51L|WSCD1_uc002gco.3_Missense_Mutation_p.P51L|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	51						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCACCCGGCCCCCTGCAGACC	0.711000														14			6		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28719764	28719764	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28719764G>A	uc002kwn.3	-	10	1872	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	DSC1_uc002kwm.3_Missense_Mutation_p.S537F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	537	Cadherin 4.				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)			TACAAATTTGGATTCTCTATC	0.318000														27			36		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329988	7329988	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7329988G>A	uc002ggw.3	+	2	751	c.678G>A	c.(676-678)ctG>ctA	p.L226L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	226						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GTGGTATCCTGGCCAGTCTGC	0.642000														35			30		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48529989	48529989	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:48529989G>A	uc003gyh.1	-	52	7745	c.7140_splice	c.e52+1	p.S2380_splice	FRYL_uc003gyg.1_Splice_Site_p.S1076_splice|FRYL_uc003gyi.1_Splice_Site_p.S1268_splice|FRYL_uc003gyj.1_Splice_Site_p.S675_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2380					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTACTCACTGATGGGTTCTT	0.368000														29			23		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5624436	5624436	+	Silent	SNP	G	A	A	rs57671285	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:5624436G>A	uc003gij.3	-	13	2383	c.2329C>T	c.(2329-2331)Ctg>Ttg	p.L777L	EVC2_uc003gik.3_Silent_p.L697L|EVC2_uc011bwb.2_Silent_p.L217L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	777						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCTCCTCCAGGATCTGCTGC	0.652000														29			20		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582427	136582427	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:136582427C>T	uc003qgx.1	-	11	2986	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	BCLAF1_uc011edb.1_Silent_p.K190K|BCLAF1_uc003qgy.1_Silent_p.K860K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K909K|BCLAF1_uc003qgw.1_Silent_p.K738K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	911					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTGTCCTTCTTTTCTTCAT	0.348000														159			24		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206651584	206651584	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:206651584C>T	uc001hdz.2	+	8	1472	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IKBKE_uc009xbu.2_3'UTR|IKBKE_uc001hea.2_Silent_p.F213F|IKBKE_uc009xbv.2_Silent_p.F298F	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	298	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCGACCAGTTCTTTGCGGAGA	0.607000														60			84		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17040363	17040363	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:17040363C>T	uc004cxv.1	+	2	686	c.515C>T	c.(514-516)tCc>tTc	p.S172F	REPS2_uc004cxw.1_Missense_Mutation_p.S172F|REPS2_uc011miw.1_Missense_Mutation_p.S32F	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	172					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAAAAAAATTCCTTCAAAAGA	0.393000														32			18		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848520	73848520	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:73848520G>A	uc003xzb.3	+	2	1518	c.930G>A	c.(928-930)agG>agA	p.R310R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	310					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R310T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCATCCTCAGGATCCTGAAAC	0.512000														54			37		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073301	134073301	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:134073301C>T	uc003iha.3	+	0	2832	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	PCDH10_uc003igz.3_Missense_Mutation_p.S669F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	669	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGCCCCTTTCCTCCACCGCC	0.736000														20			24		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4016064	4016064	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4016064G>A	uc002fxe.3	-	4	969	c.905C>T	c.(904-906)tCc>tTc	p.S302F	ZZEF1_uc002fxk.1_Missense_Mutation_p.S302F	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	302	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CACTGCAATGGACAGGTGCCT	0.468000														24			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305970	54305970	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54305970G>A	uc021smr.1	+	0	870	c.870G>A	c.(868-870)caG>caA	p.Q290Q	UNC13C_uc021sms.1_Silent_p.Q290Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	290					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATTGAGCAGTTGCGCACAG	0.458000														83			49		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617145	77617145	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77617145G>A	uc003yau.2	+	1	1209	c.822G>A	c.(820-822)agG>agA	p.R274R	ZFHX4_uc003yat.1_Silent_p.R274R|ZFHX4_uc003yaw.1_Silent_p.R274R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R274M(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGGGAAAAGGAAACCTGTTT	0.428000										HNSCC(33;0.089)				45			29		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730180	55730180	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:55730180C>T	uc021tio.1	+	7	1242	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	SLC6A2_uc002eif.3_Silent_p.T397T|SLC6A2_uc002eig.3_Silent_p.T397T|SLC6A2_uc002eii.3_Silent_p.T292T|SLC6A2_uc002eij.3_Silent_p.T111T	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	397					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCATTTCTACCCTGTCTGGAT	0.512000														62			42		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74011410	74011410	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:74011410C>T	uc010wss.1	-	15	2220	c.1992G>A	c.(1990-1992)caG>caA	p.Q664Q	EVPL_uc002jqi.2_Silent_p.Q642Q|EVPL_uc010wst.1_Silent_p.Q112Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	642	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.E664K(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTCCGCATCCTGGATCTGCC	0.687000														6			9		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344792	21344792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:21344792C>T	uc002zto.3	+	7	872	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	LZTR1_uc002ztn.3_Nonsense_Mutation_p.Q216*|LZTR1_uc011ahy.2_Nonsense_Mutation_p.Q238*|LZTR1_uc010gsr.1_Nonsense_Mutation_p.Q128*	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	257					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAACCTCTTCCAGTTTGAATT	0.522000														30			11		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94353008	94353008	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:94353008C>T	uc001pfa.3	+	17	2462	c.2251C>T	c.(2251-2253)Cca>Tca	p.P751S	PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	751	Piwi.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACAGAACCCCCCACTTGGCAC	0.443000														58			14		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221421	5221421	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5221421G>A	uc010qyz.2	-	0	510	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTCAGACAGATGATGGGGG	0.398000														73			33		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66197696	66197696	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:66197696G>A	uc003hcy.3	-	16	3196	c.3003C>T	c.(3001-3003)acC>acT	p.T1001T	EPHA5_uc003hcx.3_Silent_p.T933T|EPHA5_uc003hcz.3_Silent_p.T979T|EPHA5_uc011cah.2_Silent_p.T1002T|EPHA5_uc011cai.2_Silent_p.T980T|EPHA5_uc003hda.2_Silent_p.T1002T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	1001	SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCACTCCAAGGTCACCTGAG	0.403000										TSP Lung(17;0.13)				50			29		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647617	19647617	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:19647617G>A	uc002ykw.3	-	23	2832	c.2801C>T	c.(2800-2802)cCt>cTt	p.P934L		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	934	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGATAGAAGAGGAACATCAGC	0.398000														71			45		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389258	4389258	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4389258G>A	uc010qye.2	-	0	359	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R90C(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCAGCACGGAACCAGAAG	0.532000														35			22		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954537	70954537	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70954537C>T	uc002ezr.3	-	45	7890	c.7739G>A	c.(7738-7740)tGg>tAg	p.W2580*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2581										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCCTGCTTCCAGCTCAAGCC	0.587000														17			12		0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10265407	10265407	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:10265407G>A	uc002wnq.2	+	3	362	c.150G>A	c.(148-150)ttG>ttA	p.L50L	SNAP25_uc002wnr.2_Silent_p.L50L|SNAP25_uc002wns.2_5'UTR|SNAP25_uc010gca.2_Silent_p.L50L	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	50	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TGGTTATGTTGGATGAACAAG	0.353000														65			29		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234036	155234036	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155234036G>A	uc001fjy.3	-	10	1492	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Missense_Mutation_p.P400L|CLK2_uc001fjx.3_Missense_Mutation_p.P173L|CLK2_uc009wqm.3_Missense_Mutation_p.P401L	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	401	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCCGGGAAGGGATAGGACC	0.453000								Other conserved DNA damage response genes						33			44		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683799	6683799	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6683799C>T	uc010vtg.2	+	1	732	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	204										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AGGACTATTTCAGCCATCACC	0.502000														52			37		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848706	29848706	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29848706G>A	uc002kxl.3	-	5	1815	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	FAM59A_uc002kxk.2_Missense_Mutation_p.P586S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	587										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTTTCAGAAGGATTTGTGTCA	0.408000														45			74		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197480987	197480987	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197480987T>C	uc021pgu.1	-	21	2024	c.1686A>G	c.(1684-1686)tcA>tcG	p.S562S	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CCATTTCACCTGAGTAAGGAG	0.413000														108			40		0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578238	48578238	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:48578238C>G	uc001rrj.2	+	0	873	c.333C>G	c.(331-333)ttC>ttG	p.F111L		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	111						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						AGGGGAGCTTCCAGAGCGACC	0.662000														15			13		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443402	56443402	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56443402C>T	uc010ygg.2	-	0	301	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	92	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGTCAGATTCATTGTCTGGA	0.507000														53			28		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708317	126708317	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:126708317C>T	uc003ejg.3	+	0	881	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	294	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAATTCTACTCGTACGTTGAG	0.642000														194			31		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509720	72509720	+	Silent	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:72509720G>T	uc001jrg.3	+	15	2415	c.2415G>T	c.(2413-2415)ctG>ctT	p.L805L	ADAMTS14_uc001jrh.3_Silent_p.L802L	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	802	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCGGGCCCCTGCCTGAAGCCA	0.642000														33			35		1.836e-18	1.86216e-18	1	1	0
C1orf192	257177	broad.mit.edu	37	1	161336031	161336031	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161336031G>C	uc001gal.3	-	2	134	c.128C>G	c.(127-129)gCc>gGc	p.A43G		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	43										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACGATCGTTGGCAATAATTTG	0.448000														74			14		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95384472	95384472	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:95384472G>A	uc003ygk.3	-	14	2790	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	RAD54B_uc010may.2_Missense_Mutation_p.P703S	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	234					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCAAGAAAAGGATCTGTAAGA	0.358000								Direct reversal of damage;Homologous recombination						25			14		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519449	28519449	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:28519449G>A	uc001zbj.3	-	6	894	c.788C>T	c.(787-789)tCc>tTc	p.S263F	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	263					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCACGACGGACCTGAGGAA	0.592000														24			27		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418778	113418778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113418778C>T	uc003ynu.3	-	34	5943	c.5784G>A	c.(5782-5784)tgG>tgA	p.W1928*	CSMD3_uc003yns.3_Nonsense_Mutation_p.W1130*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W1888*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W1824*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1928	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAATCATTCCACTGGGCCA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				53			38		0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5298237	5298237	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5298237G>A	uc010vsx.2	-	8	1445	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	NUP88_uc002gbo.2_Silent_p.I452I|NUP88_uc010cle.2_Silent_p.I451I|NUP88_uc010vsy.2_Silent_p.I452I	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	452					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCGTACAAAGGATGTGTTCAA	0.388000														52			42		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578371	7578371	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7578371C>T	uc002gim.2	-	5	753	c.559_splice	c.e5+1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.3_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.2_Splice_Site_p.G148_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	187	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G187S(14)|p.0?(8)|p.?(2)|p.V173fs*59(2)|p.G187fs*16(2)|p.G187C(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*60(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCTCACCATCGCTATCT	0.637000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				33			18		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924274	34924274	+	Missense_Mutation	SNP	C	T	T	rs139074520		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:34924274C>T	uc002yse.1	+	2	2786	c.2737C>T	c.(2737-2739)Ccc>Tcc	p.P913S	SON_uc002ysb.1_Missense_Mutation_p.P913S|SON_uc002ysc.3_Missense_Mutation_p.P913S|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P559S|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	913	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.P913S(2)|p.P913L(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATCTCCTGATCCCTATAGGTT	0.473000														52			47		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109816585	109816585	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:109816585G>A	uc003ptn.2	-	38	5451	c.5374C>T	c.(5374-5376)Ccg>Tcg	p.P1792S	AKD1_uc011eas.1_Missense_Mutation_p.P177S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1792					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						AGAAGTATCGGTTCCCTTAAT	0.383000														21			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427599	179427599	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179427599A>T	uc021vsy.1	-	274	75781	c.75556T>A	c.(75556-75558)Tcc>Acc	p.S25186T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S18881T|TTN_uc021vta.1_Missense_Mutation_p.S18814T|TTN_uc021vtb.1_Missense_Mutation_p.S18689T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26113	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTTTTGGAGCCACTATTA	0.403000														21			18		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90484384	90484384	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:90484384C>T	uc010qmv.2	+	0	84	c.84C>T	c.(82-84)aaC>aaT	p.N28N		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	28					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACAATGCAAACCCTGAAGCTA	0.358000														9			3		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49693900	49693900	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:49693900G>A	uc003cxe.4	+	4	7025	c.6911G>A	c.(6910-6912)gGg>gAg	p.G2304E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2304					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATGCCAGTAGGGGCTGCACGG	0.647000														16			25		0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1825473	1825473	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:1825473G>A	uc003gdv.3	-	7	1527	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	410	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGATGTGGGGATCTCCTGAT	0.642000														22			18		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754118	49754118	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754118C>T	uc003ozu.3	-	0	936	c.783G>A	c.(781-783)gaG>gaA	p.E261E		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	261					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCTTGGCTCCCTCTTCATCAA	0.408000														202			77		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059014	63059014	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:63059014G>A	uc009yor.3	+	1	613	c.405G>A	c.(403-405)tgG>tgA	p.W135*	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Nonsense_Mutation_p.W83*	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	135						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTCCAGTGGGACCTGGTAT	0.463000														40			34		0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170521	104170521	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104170521T>C	uc004bbh.1	+	2	747	c.471T>C	c.(469-471)ttT>ttC	p.F157F	ZNF189_uc004bbg.1_Silent_p.F115F|ZNF189_uc004bbi.1_Silent_p.F143F|ZNF189_uc011lvk.1_Silent_p.F142F|ZNF189_uc022ble.1_Silent_p.F62F	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	157					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGGGTTTTGTCCGCAAGG	0.403000														42			42		0	0	1	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45602488	45602488	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:45602488G>A	uc001jby.3	-	0		c.949C>T			LOC100133308_uc001jbz.3_Non-coding_Transcript|LOC100133308_uc009xmq.2_Non-coding_Transcript					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		CTGGTGGCAGGATTTCAAAAC	0.413000														19			18		0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156864334	156864334	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:156864334G>A	uc003ipg.3	-	1	267	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_001334	NP_001325	P43234	CATO_HUMAN	Homo sapiens cathepsin O (CTSO), mRNA.	73					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AAACAAATAGGAAAACTGATT	0.313000														92			62		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331726	107331726	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:107331726C>T	uc011lvo.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAAAGGTTTCCTTCTCTGGG	0.468000														87			60		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426433	426433	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:426433G>A	uc002cgu.4	-	5	1056	c.927C>T	c.(925-927)acC>acT	p.T309T	TMEM8A_uc002cgv.4_Silent_p.T116T	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	309					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGGGCTGGATGGTCACGCTCC	0.647000														21			7		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241294	126241294	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126241294G>A	uc003ifj.4	+	0	3728	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1243	Cadherin 12.				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						GGTAATAATGGACTTATTCAC	0.338000														32			27		0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7035934	7035934	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:7035934G>A	uc002qyp.1	+	5	1083	c.947G>A	c.(946-948)gGa>gAa	p.G316E		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	316					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGTAGAAAGGGACGGAAGGAC	0.383000														40			19		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160998276	160998276	+	Missense_Mutation	SNP	C	T	T	rs147235826	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:160998276C>T	uc003qtl.3	-	28	4643	c.4523G>A	c.(4522-4524)cGg>cAg	p.R1508Q		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4016	Kringle 14.				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)	TCGATAACTCCGTCCATCACC	0.453000														97			74		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766333	91766333	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:91766333C>T	uc010aty.3	-	20	3871	c.3717G>A	c.(3715-3717)caG>caA	p.Q1239Q		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1239					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCTCTGCTCCTGCTGCAGCG	0.672000														0			4		0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4383380	4383380	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:4383380G>A	uc002cwc.1	+	1	271	c.205G>A	c.(205-207)Gtg>Atg	p.V69M		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	69	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCCGAGAAGGTGGAGGGACG	0.632000														24			18		0	0	1	0	0
C2orf63	130162	broad.mit.edu	37	2	55403062	55403063	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:55403062_55403063AC>TT	uc002ryi.2	-	12	1970_1971	c.1624_1625GT>AA	c.(1624-1626)gtg>AAg	p.V542K	C2orf63_uc002ryh.2_Missense_Mutation_p.V93K|C2orf63_uc002ryj.2_Missense_Mutation_p.V420K	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	542							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			TATATTTGCCACTTCTTGCCAC	0.347000														56			28		0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53617255	53617255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:53617255C>T	uc001vhl.3	+	3	682	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	196					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AAATATGACTCTCTTGGTAGA	0.388000														46			37		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:103698526G>A	uc001vpy.4	-	5	1601	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000														35			21		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19573100	19573100	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:19573100G>A	uc001vuz.1	+	8	1250	c.1198_splice	c.e8-1	p.E400_splice	POTEG_uc001vva.1_Splice_Site|POTEG_uc010ahc.1_Splice_Site	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	400										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCATCTGCAGGAAATGTCTCA	0.284000														134			12		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9066986	9066986	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:9066986G>A	uc003brf.1	-	13	2313	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	SRGAP3_uc003brg.1_Missense_Mutation_p.S522F|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	546	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTCCACCTGAGATCCTGGCAC	0.458000			T	RAF1	pilocytic astrocytoma									49			37		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798174	38798174	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38798174C>T	uc003ciq.3	-	8	1281	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	427					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTCCTGCTCCTTCCGGAGCA	0.507000														75			57		0	0	1	0	0
PDAP1	11333	broad.mit.edu	37	7	98995508	98995508	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:98995508C>T	uc003uqe.3	-	4	598	c.464G>A	c.(463-465)cGg>cAg	p.R155Q		NM_014891	NP_055706	Q13442	HAP28_HUMAN	Homo sapiens PDGFA associated protein 1 (PDAP1), mRNA.	155					cell proliferation|signal transduction			p.R155Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TTCCTTCTTCCGGGCAGCCTC	0.612000														55			33		0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71532202	71532202	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:71532202C>T	uc010ihz.3	-	0	147	c.6G>A	c.(4-6)aaG>aaA	p.K2K	IGJ_uc003hfn.4_Silent_p.K2K	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	2					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			GCAAATGGTTCTTCATCTTGA	0.383000														37			15		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899755	189899755	+	Missense_Mutation	SNP	C	T	T	rs139229616	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:189899755C>T	uc002uqk.3	-	52	4515	c.4240G>A	c.(4240-4242)Gat>Aat	p.D1414N	COL5A2_uc010frx.3_Missense_Mutation_p.D990N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1414	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTAGCTTGATCGTCCATGTAT	0.383000														58			41		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170697488	170697488	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:170697488C>T	uc003qxp.3	+	6	2505	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	FAM120B_uc003qxo.1_Silent_p.F799F|FAM120B_uc011ehd.2_Silent_p.F131F|FAM120B_uc010kla.1_Non-coding_Transcript	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	799					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CGAGTGATTTCATGCCCTGGA	0.498000														36			30		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453688	84453688	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:84453688C>T	uc001vlk.3	-	0	2841	c.1955G>A	c.(1954-1956)cGa>cAa	p.R652Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	652						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTGGCATCTCGTCTCTTGGA	0.567000														32			29		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35474515	35474515	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:35474515G>A	uc001byh.3	-	10	1731	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	ZMYM6_uc001byf.1_Silent_p.F501F|ZMYM6_uc010oht.2_Silent_p.F404F|ZMYM6_uc009vup.3_Silent_p.F307F|ZMYM6_uc009vuq.1_Silent_p.F501F|ZMYM6_uc009vur.1_Silent_p.F307F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	501					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGGCAGAGAGGAATTTGCAAA	0.398000														30			45		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874944	20874944	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:20874944C>T	uc010sii.2	+	8	1337	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	SLCO1C1_uc010sij.2_Missense_Mutation_p.P279S|SLCO1C1_uc009zip.3_Missense_Mutation_p.P162S|SLCO1C1_uc001rei.3_Missense_Mutation_p.P328S|SLCO1C1_uc010sik.2_Missense_Mutation_p.P210S	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	328					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.P328S(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTACCAAACACCCCAGGGAGA	0.348000														36			23		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443780	20443780	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20443780G>A	uc010tkx.2	+	0	103	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGGGTGACAGAATTTGTGTT	0.398000														78			77		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875398	189875398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:189875398C>T	uc002uqj.1	+	49	4153	c.4036C>T	c.(4036-4038)Cct>Tct	p.P1346S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1346	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P1346P(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGAACTTCCTGAAGATGT	0.418000														98			62		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101961	69101961	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69101961C>T	uc003hdw.4	-	2	284	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	50	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATATGAAAATCACCTTGATAA	0.328000														21			10		0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23723131	23723131	+	Silent	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:23723131T>A	uc004dao.3	-	13	1232	c.1086A>T	c.(1084-1086)tcA>tcT	p.S362S	ACOT9_uc004dan.3_Silent_p.S103S|ACOT9_uc004dap.3_Silent_p.S353S|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Silent_p.S293S	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	353					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GAAAGAGCAATGAGCCAACCT	0.403000														5			44		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2594038	2594038	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:2594038C>T	uc002fuy.1	-	25	3866	c.3780G>A	c.(3778-3780)gtG>gtA	p.V1260V	KIAA0664_uc002fux.1_Silent_p.V1193V|KIAA0664_uc010ckc.1_3'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	1260							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GCCGCCGCGCCACCTCGGCTT	0.677000														16			16		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119926651	119926651	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:119926651G>A	uc001txe.3	+	4	1002	c.537G>A	c.(535-537)gtG>gtA	p.V179V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	179										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGAAGCCTGTGATCACCTGCT	0.547000														48			37		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080110	171080110	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:171080110G>A	uc001ghi.3	+	5	910	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	FMO3_uc001ghh.3_Missense_Mutation_p.E267K|FMO3_uc010pmb.2_Missense_Mutation_p.E247K|FMO3_uc010pmc.2_Missense_Mutation_p.E204K	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	267					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCAAGCATGAAAACTATGG	0.438000														117			54		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813245	2813245	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:2813245C>T	uc022aqr.1	-	63	10250	c.9860G>A	c.(9859-9861)aGa>aAa	p.R3287K	CSMD1_uc011kwj.2_Missense_Mutation_p.R2617K|CSMD1_uc010lrg.3_Missense_Mutation_p.R1179K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3288	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCGATGGCTCTCACATCCGC	0.483000														100			17		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17084510	17084510	+	Silent	SNP	G	A	A	rs61769731	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:17084510G>A	uc010ock.2	-	11	1588	c.1588C>T	c.(1588-1590)Cta>Tta	p.L530L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L525L(2)|p.L530L(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCGCTGTAGGCCTGGCTCT	0.577000														44			18		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740563	50740563	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:50740563G>A	uc003paf.3	+	7	1857	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	449							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGGCAAAACAGAAAAGACAGA	0.458000														31			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064860	42064860	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:42064860G>A	uc002yyq.1	-	2	836	c.384C>T	c.(382-384)gtC>gtT	p.V128V	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	128	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTCCACACGGACTGTATAGG	0.502000														35			38		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816274	82816274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:82816274G>A	uc003kii.3	+	6	2505	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E717K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	717	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGGAAAAACAGAAGAAGAAGT	0.368000														42			23		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66030131	66030132	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:66030131_66030132GT>AA	uc002api.3	-	6	1338_1339	c.953_954AC>TT	c.(952-954)cac>cTT	p.H318L	DENND4A_uc002aph.3_Missense_Mutation_p.H318L|DENND4A_uc002apj.3_Missense_Mutation_p.H318L|DENND4A_uc010ujj.1_Missense_Mutation_p.H318L	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	318	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AAAAAGGCCAGTGAGAAAGAAG	0.381000														5			9		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776150	5776150	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5776150C>T	uc001mbu.3	+	0	228	c.180C>T	c.(178-180)ccC>ccT	p.P60P	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGCACAAACCCATGTACTACT	0.453000														51			54		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51115160	51115160	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:51115160G>A	uc001rwv.3	+	25	3303	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V	DIP2B_uc009zlt.3_Silent_p.V479V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1049						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GAGATAATGTGGTGTTGCTCT	0.448000														88			59		0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827711	31827711	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31827711G>A	uc002wyt.4	+	3	493	c.423G>A	c.(421-423)gtG>gtA	p.V141V	BPIFA1_uc002wyu.4_Silent_p.V141V|BPIFA1_uc002wyv.3_Silent_p.V141V	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	141					innate immune response	extracellular region	lipid binding										AGCTCCAAGTGAATACGTGAG	0.557000														81			64		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49162803	49162803	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:49162803G>A	uc001rsh.4	-	19	3958	c.3298C>T	c.(3298-3300)Cgg>Tgg	p.R1100W	ADCY6_uc001rsi.4_Missense_Mutation_p.R1047W|ADCY6_uc001rsj.4_Missense_Mutation_p.R1100W	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1100					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTGGCTTCCGAGCCCCGATG	0.582000														89			70		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26932302	26932302	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:26932302G>A	uc003acw.3	-	3	1334	c.993C>T	c.(991-993)ccC>ccT	p.P331P	TPST2_uc003acx.3_Silent_p.P331P	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	331					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CATAGTTGGGGGGGTTTGCAT	0.582000														12			10		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233255	28233255	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:28233255G>A	uc009xky.3	-	11	1737	c.1639C>T	c.(1639-1641)Cca>Tca	p.P547S	ARMC4_uc010qds.2_Missense_Mutation_p.P72S|ARMC4_uc010qdt.2_Missense_Mutation_p.P239S|ARMC4_uc001itz.3_Missense_Mutation_p.P547S|ARMC4_uc010qdu.1_Missense_Mutation_p.P239S	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	547							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTCTTGTGTGGAGAATCAAGT	0.428000														30			37		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82390042	82390042	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82390042T>A	uc003uhx.2	-	23	15490	c.15201A>T	c.(15199-15201)aaA>aaT	p.K5067N		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4990					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						CTCTTGTTTTTTTCTTGATCA	0.328000														35			26		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273882	10273882	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:10273882C>T	uc010uym.2	-	2	697	c.387G>A	c.(385-387)ggG>ggA	p.G129G	GRIN2A_uc002czo.4_Silent_p.G129G|GRIN2A_uc002czr.4_Silent_p.G129G|GRIN2A_uc010buk.3_Silent_p.G129G	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	129					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGATGCGCCCCCATGAATGC	0.597000														60			4		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160385	38160385	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:38160385G>A	uc001uwo.4	-	6	904	c.786C>T	c.(784-786)gcC>gcT	p.A262A	POSTN_uc001uwp.4_Silent_p.A262A|POSTN_uc001uwr.3_Silent_p.A262A|POSTN_uc001uwq.3_Silent_p.A262A|POSTN_uc010teu.1_Silent_p.A262A|POSTN_uc010tev.1_Silent_p.A262A|POSTN_uc010tew.1_Silent_p.A262A|POSTN_uc010tex.1_Silent_p.A177A	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	262	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCTTCCAAGGGCCTCCAATA	0.453000														44			25		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75858121	75858121	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:75858121G>A	uc021zbv.1	-	20	4275	c.4240C>T	c.(4240-4242)Cga>Tga	p.R1414*	COL12A1_uc021zbw.1_Nonsense_Mutation_p.R250*|COL12A1_uc003phs.3_Nonsense_Mutation_p.R1414*|COL12A1_uc003pht.3_Nonsense_Mutation_p.R250*	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1414	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCTTATATCGATCCACACTG	0.433000														49			37		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329201	152329201	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152329201C>T	uc001ezw.4	-	2	1134	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	354	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCCATATCCTCTCTGACT	0.507000														97			119		0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	14982959	14982959	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:14982959G>A	uc002yjb.1	+	0	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	137						plasma membrane		p.R137Q(2)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CACATCCGTCGAGAAGATCTG	0.592000														8			40		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183768	13183768	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:13183768C>T	uc010obg.2	-	1	348	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	35						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGGAAAAGATCGCCTCCACAT	0.473000														18			39		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289811	238289811	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:238289811C>T	uc002vwl.2	-	4	1929	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	COL6A3_uc002vwo.2_Silent_p.G342G|COL6A3_uc010znj.1_Silent_p.G141G|COL6A3_uc002vwq.3_Silent_p.G342G|COL6A3_uc002vwr.3_Silent_p.G141G|COL6A3_uc010znk.1_Silent_p.G548G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	548	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.E547K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTTAGGAATCCCCTCGGCAG	0.557000														73			53		0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805399	46805399	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:46805399C>T	uc002ioa.3	-	0	713	c.557G>A	c.(556-558)gGa>gAa	p.G186E		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	186					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GTTCTGTTCTCCCTGGCAACA	0.577000														45			31		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722220	141722220	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141722220G>A	uc003vwy.3	+	6	917	c.863G>A	c.(862-864)aGa>aAa	p.R288K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	288	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATTTAACAGAGACACAACT	0.458000														58			25		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226577	158226577	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158226577G>A	uc001frt.3	+	4	1138	c.605_splice	c.e4-1	p.V202_splice	CD1A_uc021pbk.1_Splice_Site	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	202	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCTTTGCAGTGAAGCCCGAGG	0.488000														49			71		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326071	152326071	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152326071C>T	uc001ezw.4	-	2	4264	c.4191G>A	c.(4189-4191)gaG>gaA	p.E1397E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1397							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)			GTCCAGTGGCCTCTCCTGTCT	0.507000														416			50		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999528	218999528	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:218999528G>A	uc002vgz.2	+	3	214	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	CXCR2_uc002vha.2_Missense_Mutation_p.E2K|CXCR2_uc002vhb.2_Missense_Mutation_p.E2K|CXCR2_uc021vwp.1_Missense_Mutation_p.E2K	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	2					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CTCAAAAATGGAAGATTTTAA	0.388000														39			30		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117146392	117146392	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:117146392G>A	uc001egq.1	-	6	2243	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	IGSF3_uc001egr.1_Missense_Mutation_p.S493L|IGSF3_uc001egs.1_Missense_Mutation_p.S166L	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	493	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAGGCTGAACGAGTTGGGCTG	0.607000														99			29		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54805411C>T	uc003pck.3	+	4	1758	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423000														78			23		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24105553	24105553	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:24105553G>A	uc002dmd.3	+	6	953	c.756G>A	c.(754-756)agG>agA	p.R252R	PRKCB_uc002dme.3_Silent_p.R252R	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	252	C2.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGACCAGCAGGAATGACTTCA	0.423000														46			41		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169364355	169364355	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:169364355G>A	uc001gga.1	-	5	1628	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	BLZF1_uc001gfy.3_Intron|C1orf114_uc001gfz.1_Missense_Mutation_p.S486F|C1orf114_uc009wvq.1_Missense_Mutation_p.S486F	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	487										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TAACTGTTTAGAACGCTTAGC	0.393000														66			32		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802771	35802771	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:35802771C>T	uc003zyd.3	+	11	1858	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	NPR2_uc010mlb.3_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	620	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.R620C(2)|p.R620H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGATGTTTCGTTATTCACT	0.408000														15			68		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181762859	181762859	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:181762859C>T	uc009wxt.3	+	44	6152	c.5957C>T	c.(5956-5958)cCt>cTt	p.P1986L	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1986					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATCTACCTTCCTTCGGACACC	0.507000														27			9		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020604	161020604	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:161020604C>T	uc003qtl.3	-	20	3335	c.3215G>A	c.(3214-3216)gGa>gAa	p.G1072E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3580	Kringle 10.				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)	GCAAGTTCTTCCTGTGACAGT	0.483000														251			131		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817454	69817454	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69817454C>T	uc003hef.2	-	0	56	c.25G>A	c.(25-27)Gta>Ata	p.V9I	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	9						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCAGAAATACCAAAGCTGAC	0.463000														44			27		0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108070977	108070977	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:108070977G>A	uc010kdf.3	-	2	448	c.197C>T	c.(196-198)cCt>cTt	p.P66L	SCML4_uc003prz.4_Missense_Mutation_p.P8L|SCML4_uc011eam.1_Missense_Mutation_p.P66L|SCML4_uc003psa.3_Missense_Mutation_p.P37L	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACTCCGCGGAGGTGAGAGGGC	0.587000														41			21		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798741	96798741	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96798741G>A	uc001kkb.3	-	7	1299	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	CYP2C8_uc010qoa.2_Missense_Mutation_p.P332S|CYP2C8_uc010qoc.2_Missense_Mutation_p.P300S|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.P316S|CYP2C8_uc021pwl.1_Missense_Mutation_p.P332S|CYP2C8_uc010qod.1_3'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	402					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTGGATTAGGAAATTCTTTG	0.373000														49			30		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173405	54173405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54173405G>A	uc003pcj.2	+	0	203	c.57G>A	c.(55-57)atG>atA	p.M19I	TINAG_uc003pci.3_Missense_Mutation_p.M19I|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	19					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAATCTGGATGGAGAAGCAGT	0.393000														104			44		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499719	66499719	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:66499719C>T	uc004aee.1	+	0	529	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GGAGCCCAATCTGCTGGACAG	0.602000														98			6		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429240	48429240	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:48429240C>T	uc001jfb.3	-	1	1074	c.646G>A	c.(646-648)Gat>Aat	p.D216N	GDF10_uc009xnp.3_Missense_Mutation_p.D215N|GDF10_uc009xnq.2_Missense_Mutation_p.D216N	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	216					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGCTCGCCATCCCGGCGGGCC	0.711000														10			13		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670610	49670610	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:49670610G>A	uc002efs.3	-	4	2751	c.2453C>T	c.(2452-2454)gCc>gTc	p.A818V	ZNF423_uc010vgn.2_Missense_Mutation_p.A701V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	818					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)				CAGGATGATGGCGTGGAAGGC	0.572000														44			10		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151786028	151786028	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:151786028G>A	uc001ezh.3	-	6	1110	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	RORC_uc001ezg.3_Silent_p.F313F|RORC_uc010pdo.2_Silent_p.F388F|RORC_uc010pdp.2_Silent_p.F334F	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	334	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.E333E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTGGCGAACTCCACCA	0.612000														52			31		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475054	32475054	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:32475054C>T	uc002roi.3	-	3	2140	c.1879G>A	c.(1879-1881)Gct>Act	p.A627T	NLRC4_uc021vfq.1_Missense_Mutation_p.A627T|NLRC4_uc002roj.2_Missense_Mutation_p.A627T|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	627					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTTCTGCAGCCTTTTCCCAT	0.458000														100			79		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7791188	7791188	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:7791188G>A	uc001ijs.3	+	20	2894	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTAGTGTTTGGAACGGACGTT	0.488000														88			59		0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447449	3447449	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrY:3447449G>A	uc004fqk.3	+	1	228	c.164G>A	c.(163-165)gGa>gAa	p.G55E	TGIF2LY_uc022ciw.1_Missense_Mutation_p.G55E	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	55						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						AAGCGCAAGGGAAACTTGCCA	0.498000														9			54		0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003133	20003133	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:20003133G>A	uc002noj.3	+	3	1169	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	ZNF253_uc002nok.3_Silent_p.K283K|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	359				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACACATAAGATACTTCATA	0.383000														30			21		0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43015181	43015181	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:43015181G>A	uc001jab.4	-	4		c.4019C>T			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		ACATTTATAGGGTTTCACCTC	0.348000														11			7		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711527	152711527	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:152711527C>T	uc021zhb.1	-	50	8288	c.8065G>A	c.(8065-8067)Gaa>Aaa	p.E2689K	SYNE1_uc003qot.4_Missense_Mutation_p.E2696K|SYNE1_uc003qou.4_Missense_Mutation_p.E2689K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2672K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2689					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		AAGGCCTGTTCCCCCTTGCCA	0.458000										HNSCC(10;0.0054)				33			32		0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65021106	65021106	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:65021106C>T	uc002jft.2	+	2	483	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	145					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GCATCCTCTTCGTGGCTGCAG	0.662000														23			22		0	0	1	0	0
TAC3	6866	broad.mit.edu	37	12	57407165	57407165	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57407165C>T	uc001smp.3	-	3	395	c.216G>A	c.(214-216)aaG>aaA	p.K72K	TAC3_uc001smt.3_Non-coding_Transcript|TAC3_uc001smu.3_Non-coding_Transcript|TAC3_uc001smv.3_Non-coding_Transcript|TAC3_uc010sqy.2_Non-coding_Transcript|TAC3_uc001smo.3_Silent_p.K72K|TAC3_uc001smq.3_Non-coding_Transcript|TAC3_uc001smr.3_Non-coding_Transcript|TAC3_uc001sms.3_Non-coding_Transcript	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	Homo sapiens tachykinin 3 (TAC3), transcript variant 1, mRNA.	72					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ATGTTGATTCCTTAGGATCTG	0.507000														30			30		0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265922	151265922	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151265922G>A	uc003wkk.3	-	10	1724	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	PRKAG2_uc003wki.3_Silent_p.F130F|PRKAG2_uc011kvl.2_Silent_p.F246F|PRKAG2_uc003wkj.3_Silent_p.F327F|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_Non-coding_Transcript	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	371	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		ATACAGCATCGAAGAGGCTGT	0.403000														43			30		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50136216	50136216	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:50136216C>T	uc010njr.2	-	8	1573	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	510	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTGAATTTTCGGAGGAAGAC	0.458000														1			23		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52942077	52942077	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:52942077G>T	uc001sao.3	-	4	907	c.837C>A	c.(835-837)caC>caA	p.H279Q		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	279	Linker 12.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TGTCACTGATGTGGGACTGGA	0.532000														47			26		1.77063e-15	1.79183e-15	1	1	0
STON2	85439	broad.mit.edu	37	14	81743713	81743713	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:81743713G>A	uc010tvu.2	-	3	2140	c.1942C>T	c.(1942-1944)Cat>Tat	p.H648Y	STON2_uc001xvk.1_Missense_Mutation_p.H648Y|STON2_uc010tvt.2_Missense_Mutation_p.H445Y	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	648	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACACACCCATGGAAACGGCAC	0.498000														10			25		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12089301	12089301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:12089301C>T	uc010xmf.2	+	3	748	c.622C>T	c.(622-624)Cga>Tga	p.R208*	ZNF700_uc002msv.3_Nonsense_Mutation_p.R191*|ZNF700_uc002msw.3_Nonsense_Mutation_p.R188*|ZNF700_uc010xmg.2_Nonsense_Mutation_p.R66*	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCAGGCATTCGAAGACGCAT	0.403000														111			78		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168151478	168151478	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:168151478C>T	uc010jjg.3	-	20	2702	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	SLIT3_uc003mab.3_Missense_Mutation_p.G761E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	761					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGTGGTTTCCTTCCAGGTA	0.512000														17			18		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142622683	142622683	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142622683G>A	uc003wby.1	-	7	1327	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	TRPV5_uc003wbz.3_Missense_Mutation_p.R355C	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	355					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R355L(1)|p.R355H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTGCCACCACGAAACTTAAGG	0.517000														45			26		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48955974	48955974	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:48955974C>T	uc002pjd.2	+	6	1266	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	345						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GTCTGGTTCCCCAGTGGCCAC	0.647000														30			32		0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57454686	57454686	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57454686G>A	uc001smy.3	-	7	1069	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	TMEM194A_uc001smx.3_Silent_p.L268L|TMEM194A_uc010sra.2_Silent_p.L82L	NM_001130963	NP_001124435	O14524	T194A_HUMAN	Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA.	341						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTCTGTCAGGAGACGAGGGG	0.433000														42			30		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116307423	116307423	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:116307423C>T	uc021pyx.1	-	4	885	c.786G>A	c.(784-786)ggG>ggA	p.G262G	ABLIM1_uc021pyw.1_Silent_p.G262G|ABLIM1_uc021pyy.1_Silent_p.G202G|ABLIM1_uc021pyz.1_Silent_p.G196G|ABLIM1_uc021pza.1_Silent_p.G202G|ABLIM1_uc021pze.1_Silent_p.G186G|ABLIM1_uc021pzf.1_Silent_p.G196G|ABLIM1_uc021pzd.1_Silent_p.G110G	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	262	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGATGTACTCCCCGGTGAGGA	0.612000														36			19		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147551	26147551	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:26147551G>A	uc002dof.3	+	1	1745	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	451					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGTGGGAACAGGAAGAGGGTG	0.468000														17			6		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129203	248129203	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248129203C>A	uc010pzd.2	+	0	570	c.570C>A	c.(568-570)aaC>aaA	p.N190K	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCTCATTAACCACTTTTTCT	0.443000														90			107		5.64992e-62	5.75632e-62	1	1	0
ALPP	250	broad.mit.edu	37	2	233246359	233246359	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:233246359G>T	uc002vsq.3	+	10	1627	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	488						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCCTTCGCCGCCTGCCTGGA	0.746000														15			8		1.26484e-09	1.27284e-09	1	1	0
GBA3	57733	broad.mit.edu	37	4	22749125	22749125	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:22749125G>A	uc003gqp.4	+	2	584	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.E166K	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	165					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACCATAAATGAAGCTAATGT	0.423000														69			46		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290854	5290854	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5290854G>A	uc001mal.1	-	1	411	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L49L	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	49					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGACGACAGGTTTCCAAAG	0.453000														57			35		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752078	36752078	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:36752078C>T	uc001cae.4	+	3	471	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	THRAP3_uc001caf.4_Missense_Mutation_p.P83S|THRAP3_uc001cag.1_Missense_Mutation_p.P83S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	83	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTATAGAAGGCCCTATTATTT	0.463000			T	USP6	aneurysmal bone cysts									134			55		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	599095	599095	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:599095C>T	uc002chi.3	+	4	1915	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S		NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	518	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GTGGCTGCGACCCCAGGAGAT	0.647000														23			78		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701089	192701089	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:192701089G>A	uc002utb.3	-	1	1193	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	280						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GATATTTTCTGGTGATTTGAC	0.458000														142			96		0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44230295	44230295	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:44230295A>G	uc003oxe.1	-	2	910	c.885_splice	c.e2+1	p.Q295_splice		NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	295					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCGCCACCAACCTGGTAAAG	0.542000														41			16		0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568118	45568118	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45568118G>A	uc001rom.2	-	2	568	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCTGAACAAGGAGGTCACAG	0.413000														114			73		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585170	43585170	+	Missense_Mutation	SNP	C	T	T	rs150218743		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43585170C>T	uc002ovr.3	-	1	465	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	98	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGCTGTTTCTCGTCCACTATA	0.448000														200			151		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103183194	103183194	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:103183194C>T	uc022ajr.1	-	42	6815	c.6655G>A	c.(6655-6657)Gat>Aat	p.D2219N	RELN_uc022ajq.1_Missense_Mutation_p.D2219N|RELN_uc010liz.3_Missense_Mutation_p.D2219N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2219					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTGATAAATCCAGGTCTCGT	0.398000														42			41		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421791	89421791	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:89421791C>T	uc001pda.3	+	9	1174	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	216					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTGAGGTGTTCTTCCAACGAC	0.313000														80			50		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32783059	32783059	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:32783059C>T	uc003jhv.3	+	5	1796	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	NPR3_uc010iuo.3_Missense_Mutation_p.P235S|NPR3_uc003jhw.2_Missense_Mutation_p.P235S|NPR3_uc003jhu.3_Missense_Mutation_p.P451S	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	451					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGTCAAATATCCTTGGGGCCC	0.368000														14			6		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754076	49754076	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754076C>T	uc003ozu.3	-	0	978	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	275					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.K275N(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTACACCATTCTTTTGTGCTT	0.428000														211			79		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972505	92972505	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:92972505C>T	uc022axs.1	-	11	2144	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	RUNX1T1_uc003yfc.2_Missense_Mutation_p.G567R|RUNX1T1_uc010mam.3_Missense_Mutation_p.G567R|RUNX1T1_uc003yfe.2_Missense_Mutation_p.G557R|RUNX1T1_uc003yfd.3_Missense_Mutation_p.G594R|RUNX1T1_uc022axo.1_Missense_Mutation_p.G594R|RUNX1T1_uc010mao.3_Missense_Mutation_p.G567R|RUNX1T1_uc011lgi.2_Missense_Mutation_p.G605R|RUNX1T1_uc022axp.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axq.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axr.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axt.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axu.1_Missense_Mutation_p.G574R|RUNX1T1_uc022axv.1_Missense_Mutation_p.G594R|RUNX1T1_uc010man.2_Missense_Mutation_p.G219R|RUNX1T1_uc003yfb.2_Missense_Mutation_p.G557R	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	594					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAAGGGGTTCCCGGGGTGGTT	0.592000														6			5		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35779418	35779418	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35779418C>T	uc003jjo.3	+	29	4528	c.4417C>T	c.(4417-4419)Cga>Tga	p.R1473*	SPEF2_uc003jjp.1_Nonsense_Mutation_p.R959*|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1473					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGACAGTCTTCGAGATCAGTT	0.398000														78			15		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136545942	136545942	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:136545942C>T	uc002tuu.1	-	16	5747	c.5736G>A	c.(5734-5736)ggG>ggA	p.G1912G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1912					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTGTGTTTTCCCTTGCTTAG	0.448000														164			92		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270665	1270665	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1270665G>A	uc001lta.3	+	30	12614	c.12555G>A	c.(12553-12555)ggG>ggA	p.G4185G		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4185	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCCCCTGGGGGAGTTGGGCC	0.632000														72			42		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325484	31325484	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:31325484G>A	uc010dmg.1	+	11	5727	c.5672G>A	c.(5671-5673)aGc>aAc	p.S1891N	ASXL3_uc002kxq.2_Missense_Mutation_p.S1598N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTGTTCACAGCCCTGAGGTC	0.507000														126			229		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612589	20612589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20612589G>A	uc010tla.2	+	0	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	232					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)		TCCTCTGAAGGAAAGAGCAAG	0.493000														113			79		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995867	57995867	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:57995867G>A	uc010rkd.2	-	0	524	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGAGCTGCAGGGAGGGGAAG	0.642000														18			24		0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430389	36430389	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:36430389A>T	uc002oco.3	+	1	514	c.62A>T	c.(61-63)cAg>cTg	p.Q21L		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	21	LRRNT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCCCACCCCAGTCAGCCACA	0.706000														19			25		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4349375	4349375	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4349375C>T	uc002fxt.3	+	3	479	c.435C>T	c.(433-435)atC>atT	p.I145I	SPNS3_uc002fxu.3_Silent_p.I18I	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	145					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCGGGGCATCGTGGGCACTG	0.637000														34			24		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:128302184C>T	uc003kuy.3	+	1	750	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_uc003kuz.3_Silent_p.F118F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567000														28			14		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814336	106814337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:106814336_106814337CC>TT	uc003ymd.3	+	7	2049_2050	c.2026_2027CC>TT	c.(2026-2028)ccc>TTc	p.P676F	ZFPM2_uc011lhs.2_Missense_Mutation_p.P407F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCCAGTGTCCCCTTAGTGGAT	0.426000														25			19		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22117189	22117189	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:22117189C>T	uc004dah.3	+	8	1202	c.999C>T	c.(997-999)atC>atT	p.I333I	PHEX_uc011mjr.2_Silent_p.I333I|PHEX_uc011mjs.2_Silent_p.I236I	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	333					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAAAGACATCAGCCCCTCCG	0.458000														11			71		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68693236	68693236	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:68693236T>C	uc003hdq.3	-	7	760	c.695A>G	c.(694-696)aAc>aGc	p.N232S	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.N13S|TMPRSS11D_uc011caj.2_Missense_Mutation_p.N115S	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	232	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGATTAGAGTTGCTAAAACA	0.313000														29			23		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76711919	76711919	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76711919C>T	uc003hiu.3	+	10	1231	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	USO1_uc003hiv.3_Silent_p.I238I|USO1_uc003hiw.3_Silent_p.I238I	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	403	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGGAGAAATCGTGTCAACAC	0.323000														27			14		0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951818	37951818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:37951818G>A	uc003tfo.4	-	3	1080	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	232	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R232Q(2)|p.R232R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACTTGAGTTCGAGGGATGGGT	0.473000														75			16		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472834	6472834	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:6472834G>A	uc001iji.1	-	15	2086	c.2002C>T	c.(2002-2004)Cgg>Tgg	p.R668W	PRKCQ_uc001ijj.2_Missense_Mutation_p.R635W|PRKCQ_uc009xim.2_Missense_Mutation_p.R572W|PRKCQ_uc009xin.2_Missense_Mutation_p.R599W|PRKCQ_uc010qax.2_Missense_Mutation_p.R510W	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	635	AGC-kinase C-terminal.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R635W(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTGATCTCCCGAAACAAAGGG	0.592000														21			21		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1480225	1480225	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:1480225A>G	uc003skj.4	-	8	1952	c.1805_splice	c.e8+1	p.R602_splice	MICALL2_uc003ski.4_Splice_Site_p.R89_splice	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	602						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)		CCCATCCCTAACCTCTCAGCT	0.587000														31			10		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174334	63174334	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:63174334G>A	uc001xfx.3	-	10	2910	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	953					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTGGGATTTGGGAGATGAGG	0.463000														57			29		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898405	47898405	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:47898405C>T	uc003tny.2	-	26	4262	c.4228G>A	c.(4228-4230)Gtg>Atg	p.V1410M		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1410	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGTCAATCACAAATGGCCCC	0.493000														58			36		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100384146	100384146	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:100384146C>T	uc001ygr.3	+	16	1906	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	EML1_uc010tww.2_Missense_Mutation_p.P582S|EML1_uc001ygs.3_Missense_Mutation_p.P594S	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	594						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGTTTTCATCCTTCAGGGTC	0.428000														4			20		0	0	1	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104053178	104053178	+	Silent	SNP	C	T	T	rs73699556	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:104053178C>T	uc003ykz.4	+	1	359	c.114C>T	c.(112-114)ttC>ttT	p.F38F	ATP6V1C1_uc010mbz.3_Intron|ATP6V1C1_uc003yla.3_Silent_p.F38F|ATP6V1C1_uc011lhl.2_Intron	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	38					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTTCCAAGTTCAATATTCCTG	0.423000														52			48		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43999910	43999910	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:43999910C>T	uc002zbj.3	+	19	2568	c.1586_splice	c.e19+1	p.P529_splice	SLC37A1_uc002zbi.3_Splice_Site_p.P529_splice	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	529					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GACCAAGTTCCGTAAGTCCCA	0.562000														14			16		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084581	39084581	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39084581G>A	uc002hvm.1	-	5	1419	c.830C>T	c.(829-831)cCa>cTa	p.P277L	KRT23_uc010wfl.1_Missense_Mutation_p.P140L|KRT23_uc010cxf.1_Missense_Mutation_p.P64L|KRT23_uc010cxg.3_Missense_Mutation_p.P277L	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	277	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CACAGTGGCTGGACTGGCTGC	0.557000														112			89		0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35576562	35576562	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:35576562C>T	uc001wss.3	-	5	875	c.521G>A	c.(520-522)aGa>aAa	p.R174K	PPP2R3C_uc001wst.3_Missense_Mutation_p.R58K|PPP2R3C_uc010tpr.2_Missense_Mutation_p.R58K|PPP2R3C_uc001wsu.3_Non-coding_Transcript|PPP2R3C_uc010amn.1_Intron|AK128559_uc001wsv.1_Intron	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', gamma (PPP2R3C), mRNA.	174						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GAGTCCTATTCTTGTTTGATG	0.338000														62			47		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153656262	153656262	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:153656262C>T	uc001fcs.4	+	6	1867	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	NPR1_uc010pdz.2_Silent_p.S228S|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	482					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCAGCCTCTCCTTGCTCGGCA	0.547000														108			9		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120744391	120744391	+	Missense_Mutation	SNP	G	A	A	rs146351425		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:120744391G>A	uc003you.3	-	25	3643	c.3373C>T	c.(3373-3375)Cca>Tca	p.P1125S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	1125					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTGCCGCTGGATGCATACTC	0.433000														101			69		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52821115	52821115	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52821115G>A	uc003dfs.3	+	14	1918	c.1888_splice	c.e14+1	p.D630_splice	ITIH1_uc010hmn.2_Splice_Site|ITIH1_uc021wzf.1_Splice_Site_p.D488_splice|ITIH1_uc021wzg.1_Splice_Site_p.D342_splice|ITIH1_uc021wzh.1_Splice_Site_p.D342_splice|ITIH1_uc003dft.3_Splice_Site_p.D231_splice	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	630	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCCTCAGAGGGTATAGGCTG	0.567000														53			24		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45518045	45518045	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:45518045C>T	uc003cop.1	+	9	1129	c.944C>T	c.(943-945)tCg>tTg	p.S315L	LARS2_uc010hit.1_Missense_Mutation_p.S272L	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	315					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	p.I314I(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GTGGCCATCTCGCCCAGCCAC	0.582000														65			36		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681972	47681972	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:47681972G>A	uc003oyz.1	+	6	1162	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	GPR115_uc003oza.1_Missense_Mutation_p.E331K|GPR115_uc003ozb.1_Missense_Mutation_p.E331K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	331	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGGTTGCAAGAAATCATACT	0.478000														62			83		0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39377005	39377005	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:39377005C>T	uc010oio.1	-	3	741	c.737G>A	c.(736-738)gGa>gAa	p.G246E	RHBDL2_uc010oin.1_Missense_Mutation_p.G166E|RHBDL2_uc001ccu.1_Missense_Mutation_p.G166E	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	166					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGCAATCACTCCTGCCAGGTA	0.453000														42			49		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22028628	22028628	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:22028628A>G	uc001rfh.3	-	14	2072	c.2052T>C	c.(2050-2052)ggT>ggC	p.G684G	ABCC9_uc001rfi.1_Silent_p.G684G	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	684	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTAGCTAAACCACTGCCCC	0.284000														40			32		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741619	52741619	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:52741619C>T	uc001wzq.3	+	1	1119	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	339						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ACAAGATTTTCATTAGACCTC	0.403000														25			7		0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967278	39967278	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39967278G>A	uc002hxu.3	-	3	1091	c.897C>T	c.(895-897)ttC>ttT	p.F299F	FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Silent_p.F208F	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	208					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CAGCCCGGAGGAACACGGCCT	0.647000														43			35		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42734577	42734577	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:42734577G>A	uc001zpw.3	-	6	3715	c.3388C>T	c.(3388-3390)Ccc>Tcc	p.P1130S	ZFP106_uc001zpu.3_Missense_Mutation_p.P315S|ZFP106_uc001zpv.3_Missense_Mutation_p.P315S|ZFP106_uc001zpx.3_Missense_Mutation_p.P358S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1130						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGGCTACAGGGAACCTGGTCT	0.443000														53			30		0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553358	19553358	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:19553358G>A	uc002rdc.3	-	1	512	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	70					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CGGCACTTTGGAGAAAGAAGA	0.612000														32			8		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124012338	124012338	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:124012338C>T	uc001pzu.3	+	15	2122	c.1913C>T	c.(1912-1914)cCt>cTt	p.P638L	VWA5A_uc001pzt.3_Missense_Mutation_p.P638L	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	638										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GACCGTCCTCCTTCTGCATCT	0.483000														74			60		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683056	140683056	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140683056G>A	uc003ljf.3	-	0	557	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	126					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGCTCAGTGGGGCAGAGAGC	0.522000														84			67		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32190827	32190827	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:32190827G>A	uc010vfv.1	-	6		c.997C>T								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		GTTGTCTTGTGGAGGGTGAGG	0.478000														8			13		0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82330031	82330031	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:82330031G>A	uc001kck.1	+	1	736	c.306G>A	c.(304-306)gaG>gaA	p.E102E	SH2D4B_uc001kcl.1_Silent_p.E53E	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	101	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGATTGCAGAGAGGGCGCGGC	0.607000														37			34		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124172707	124172707	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124172707T>C	uc001ufp.3	+	6	1002	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	TCTN2_uc009zya.3_Missense_Mutation_p.Y291H	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	292					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AAAGAAGGCATATTTTACTAT	0.373000														66			67		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903300	4903300	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4903300C>T	uc010qyp.2	+	0	252	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCGGAGACTCCACAAACCCA	0.468000														62			44		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469738	52469738	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52469738G>C	uc003dea.1	-	15	2230	c.2230C>G	c.(2230-2232)Cgg>Ggg	p.R744G		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	744					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCCCGGCTCCGGCTCCGGAAG	0.667000														33			29		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46307544	46307544	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:46307544G>A	uc002xto.3	-	7	1399	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SULF2_uc002xtr.3_Missense_Mutation_p.P357S|SULF2_uc002xtq.3_Missense_Mutation_p.P357S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	357					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.P357S(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACGATGTGGGGATTCCTGGGG	0.617000														46			38		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775939	47775939	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:47775939C>T	uc022bvq.1	+	4	2143	c.1894C>T	c.(1894-1896)Cat>Tat	p.H632Y	ZNF81_uc010nhy.2_Missense_Mutation_p.H632Y	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	632						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAGACAATTCATACTGGAGA	0.388000														1			14		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450723	41450723	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:41450723G>A	uc002yyq.1	-	25	5054	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1534	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCATACAGGATGTAGGACT	0.582000														26			14		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51980459	51980459	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:51980459G>A	uc002abh.3	+	4	803	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	134					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CTGTCTAGATGATCCAGATGG	0.388000														34			17		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769354	247769354	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:247769354C>T	uc010pyz.2	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGGCTAGTTCCCTAATCCAT	0.478000														77			104		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651429	1651429	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1651429G>A	uc001lty.3	+	0	397	c.359G>A	c.(358-360)gGc>gAc	p.G120D	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	120	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.701000														18			19		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735978	155735978	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155735978G>A	uc001flz.2	-	20	3383	c.3286C>T	c.(3286-3288)Cct>Tct	p.P1096S	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1096S|GON4L_uc009wrh.1_Missense_Mutation_p.P1096S|GON4L_uc001fma.1_Missense_Mutation_p.P1096S|GON4L_uc001fmb.4_Missense_Mutation_p.P292S|GON4L_uc001fmc.3_Missense_Mutation_p.P1096S|GON4L_uc001fmd.4_Missense_Mutation_p.P1096S|GON4L_uc009wri.3_Missense_Mutation_p.P682S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1096					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGGCACAGGGGCAGAAGAG	0.562000														81			40		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330661	125330661	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125330661G>A	uc004bmp.1	-	0	96	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACACGATGAGGAAGAGAACAA	0.498000														42			28		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719572	81719572	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81719572G>A	uc001szo.2	-	21	2787	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.R802*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.R777*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.R876*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.R876*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.R858*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.R876*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.R443*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.R93*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	802								p.R876*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTAGTCTTCGATCCTTCTCA	0.393000														17			9		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959883	92959883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:92959883C>T	uc001yak.3	+	16	1803	c.1780C>T	c.(1780-1782)Ctc>Ttc	p.L594F	SLC24A4_uc001yai.3_Missense_Mutation_p.L530F|SLC24A4_uc010twm.2_Missense_Mutation_p.L575F|SLC24A4_uc010auj.3_3'UTR|SLC24A4_uc010twn.2_Missense_Mutation_p.L350F|SLC24A4_uc001yan.3_Missense_Mutation_p.L288F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	594						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CGTGCTGGTTCTCTACGCCAT	0.547000														3			16		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91200880	91200880	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:91200880G>A	uc001kgm.3	-	4	734	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	115						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGAACTCCCAGAGTGAGGTAG	0.468000														50			32		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402813	50402813	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:50402813G>A	uc003daq.3	-	35	3131	c.3093C>T	c.(3091-3093)gcC>gcT	p.A1031A	CACNA2D2_uc003dap.3_Silent_p.A1024A	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	1031					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AGTCGATGATGGCGTTGTAGG	0.657000														12			13		0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99266064	99266064	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:99266064T>A	uc004awj.3	-	13	1920	c.1468A>T	c.(1468-1470)Att>Ttt	p.I490F	CDC14B_uc004awk.3_Missense_Mutation_p.I451F|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Missense_Mutation_p.I453F	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	490					DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GTCCTTGAAATGGAGAGACTA	0.393000														30			18		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995945	140995945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:140995945C>T	uc004fbt.3	+	3	3079	c.2755C>T	c.(2755-2757)Ctt>Ttt	p.L919F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.L578F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	919	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCGGTTTCTTCTCCTCAA	0.483000										HNSCC(15;0.026)				24			126		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609164	32609164	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32609164G>A	uc003obr.3	+	1	213	c.160G>A	c.(160-162)Gga>Aga	p.G54R	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.G54R|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	54	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TGAATTTGATGGAGATGAGCA	0.522000														2			8		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040298	88040298	+	Silent	SNP	G	A	A	rs141186951		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:88040298G>A	uc003dqr.2	+	1	557	c.399G>A	c.(397-399)agG>agA	p.R133R	HTR1F_uc021xbd.1_Silent_p.R133R	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	133					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGTATGCCAGGAAAAGGACTC	0.433000														41			19		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815990	2815990	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:2815990C>T	uc002crk.3	+	10	6010	c.5461C>T	c.(5461-5463)Cac>Tac	p.H1821Y	SRRM2_uc002crj.1_Missense_Mutation_p.H1725Y|SRRM2_uc002crl.1_Missense_Mutation_p.H1821Y|SRRM2_uc010bsu.1_Missense_Mutation_p.H1725Y	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1821	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTGGTTATCACTCAAGGTC	0.632000														35			20		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110986	81110986	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81110986C>T	uc001szg.2	+	0	279	c.144C>T	c.(142-144)ggC>ggT	p.G48G		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	48					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGCTGCAGGGCTCAGATGAGG	0.632000														23			18		0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134378	71134378	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:71134378C>T	uc001xmi.2	+	1	847	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	168							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGGCCCTTTACCGGTCTGGTG	0.498000														19			63		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517147	123517147	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:123517147C>T	uc003vlc.3	+	4	2022	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	462					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTCCCCTTCTCCTGGTTCACT	0.433000														73			70		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167064182	167064182	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167064182C>G	uc001geb.1	+	0	112	c.96C>G	c.(94-96)agC>agG	p.S32R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	32					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R31*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCTCCGAAGCCCCTCCCCTA	0.627000														11			6		0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49300448	49300448	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:49300448C>T	uc010emh.2	-	7	894	c.838_splice	c.e7+1	p.V280_splice	BCAT2_uc002pkq.4_Splice_Site_p.V240_splice|BCAT2_uc002pks.3_Splice_Site_p.V240_splice|BCAT2_uc002pkr.3_Splice_Site_p.V280_splice|BCAT2_uc002pkt.3_Splice_Site_p.V188_splice|Mir_324_uc021uwz.1_5'Flank|BCAT2_uc010emi.2_Splice_Site_p.V188_splice	NM_001190	NP_001181	O15382	BCAT2_HUMAN	Homo sapiens branched chain amino-acid transaminase 2, mitochondrial (BCAT2), nuclear gene encoding mitochondrial protein, transcript variant a, mRNA.	280						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GTGGGCTTACCCCCATCTTCG	0.617000														12			6		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89429848	89429848	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:89429848G>A	uc001pda.3	+	12	1620	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	365					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTGGAAAGAGCATTTATT	0.313000														30			27		0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108232564	108232564	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:108232564G>A	uc003psc.4	-	6	879	c.610C>T	c.(610-612)Ctt>Ttt	p.L204F	SEC63_uc003psb.4_Missense_Mutation_p.L64F	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	204	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACAACTGGAAGGATAACCATA	0.303000														34			17		0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217804	134217804	+	Missense_Mutation	SNP	G	A	A	rs148486050		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:134217804G>A	uc003vrr.3	+	3	720	c.400G>A	c.(400-402)Gga>Aga	p.G134R		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	134					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.G134R(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGCCATCGGTGGAAAAGCAAC	0.453000														67			49		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13269245	13269245	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:13269245G>A	uc010gce.1	+	3	708	c.702G>A	c.(700-702)ggG>ggA	p.G234G	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	234	TSP type-1.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCACCTGCGGGAACGGCAACC	0.577000														33			14		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21053352	21053352	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21053352G>A	uc010vbe.2	-	31	4635	c.4635C>T	c.(4633-4635)ctC>ctT	p.L1545L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1545	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATTTACCTTGAGATTGTCGG	0.527000														47			33		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103322663	103322663	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:103322663C>T	uc022ajr.1	-	10	1349	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	RELN_uc022ajq.1_Missense_Mutation_p.E397K|RELN_uc010liz.3_Missense_Mutation_p.E397K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	397					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGCTGCCTTCATTTCCATGG	0.458000														64			43		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49620811	49620812	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:49620811_49620812GG>AA	uc002xwa.4	-	2	1601_1602	c.1306_1307CC>TT	c.(1306-1308)ccg>TTg	p.P436L		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	436						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TACCTGGCCCGGGGTGCTCCTG	0.644000														55			35		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794637	55794637	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55794637G>A	uc010spl.2	+	0	325	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E109K(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGGATCAACAGAATTTTTTCT	0.368000														77			43		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101751478	101751478	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:101751478G>A	uc004azb.1	+	4	948	c.742G>A	c.(742-744)Ggg>Agg	p.G248R		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	248	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGAGACCAGTGGGCTGCAGGA	0.557000														34			15		0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143388	41143388	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:41143388C>T	uc002ici.1	+	4	1509	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	499	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCTCCCAGTCCTTCGCCCTTC	0.567000														56			34		0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197870635	197870635	+	Splice_Site	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:197870635C>G	uc021vuj.1	-	21	2324	c.2131_splice	c.e21-1	p.I711_splice	ANKRD44_uc002utz.4_Splice_Site_p.I418_splice|ANKRD44_uc021vuk.1_Splice_Site_p.I686_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	711							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTCATAATCTGATGCATTG	0.448000														81			53		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749087	79749087	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:79749087C>T	uc002bew.1	+	1	673	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	KIAA1024_uc010unk.1_Missense_Mutation_p.P200S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	200						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCCTGGCTCCGTACTCTGT	0.567000														48			42		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601809	38601809	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38601809C>T	uc021wvo.1	-	21	4126	c.4074G>A	c.(4072-4074)ggG>ggA	p.G1358G	SCN5A_uc021wvk.1_Silent_p.G1357G|SCN5A_uc021wvl.1_Silent_p.G1304G|SCN5A_uc021wvm.1_Silent_p.G1358G|SCN5A_uc021wvn.1_Silent_p.G1357G|SCN5A_uc021wvp.1_Silent_p.G1358G|SCN5A_uc021wvq.1_Silent_p.G1357G|SCN5A_uc021wvr.1_Silent_p.G1358G|SCN5A_uc021wvs.1_Silent_p.G1358G|SCN5A_uc021wvt.1_Silent_p.G1357G|SCN5A_uc021wvu.1_Silent_p.G1304G|SCN5A_uc021wvv.1_Silent_p.G1358G|SCN5A_uc021wvj.1_Silent_p.G1170G|SCN5A_uc021wvi.1_Silent_p.G1224G|SCN5A_uc021wvw.1_Silent_p.G968G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1358					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCCAAACTTCCCCGCAAAGA	0.547000														34			23		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116202393	116202393	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:116202393A>G	uc001efv.1	+	3	475	c.204_splice	c.e3+1	p.Q68_splice	VANGL1_uc009wgy.1_Intron|VANGL1_uc021ose.1_Splice_Site_p.Q68_splice	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	68					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAGGAAGTTCAGGTAAGGATC	0.458000														99			33		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49095047	49095047	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:49095047G>A	uc010hkq.3	-	3	882	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	QRICH1_uc003cvu.3_Nonsense_Mutation_p.Q196*|QRICH1_uc003cvv.3_Nonsense_Mutation_p.Q196*|QRICH1_uc021wxr.1_Nonsense_Mutation_p.Q133*	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	196	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGCTGAGCCTGGATTTGCTGA	0.612000														72			62		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38356925	38356925	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:38356925C>T	uc003tge.1	-	2	436	c.59G>A	c.(58-60)gGt>gAt	p.G20D	ARPP21_uc003tfv.3_5'Flank|ARPP21_uc003tfz.1_5'Flank|ARPP21_uc003tgf.1_5'Flank|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTGACCTGCACCATATACACA	0.378000														31			22		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376385	117376385	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117376385G>A	uc001prh.1	-	8	2028	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	616	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACCACACAGGGAATGTAGAGC	0.627000														44			6		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883899	4883899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4883899G>A	uc010cku.2	-	8	1199	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	CAMTA2_uc002gag.2_Missense_Mutation_p.H239Y|CAMTA2_uc002gah.2_Missense_Mutation_p.H240Y|CAMTA2_uc002gai.2_Missense_Mutation_p.H242Y|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.2_Missense_Mutation_p.H53Y	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	240					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGCATTTGTGGGTAAGGCTC	0.547000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			35		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417784	100417784	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100417784G>A	uc003uwn.1	-	4	1434	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	EPHB4_uc003uwm.1_Missense_Mutation_p.P222S|EPHB4_uc010lhj.1_Missense_Mutation_p.P315S|EPHB4_uc011kkf.1_Missense_Mutation_p.P315S|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.P315S	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	315	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACCCCGGGGGTCTGTGCGT	0.637000														52			36		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118539017	118539017	+	Nonsense_Mutation	SNP	G	A	A	rs77755264		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:118539017G>A	uc001ehk.2	-	33	5097	c.5029C>T	c.(5029-5031)Caa>Taa	p.Q1677*	SPAG17_uc021osr.1_Nonsense_Mutation_p.Q187*	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1677						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTGGCTCTTGGAGAACAACA	0.423000														47			58		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801498	9801498	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9801498C>T	uc021uop.1	-	5	1327	c.681G>A	c.(679-681)ggG>ggA	p.G227G	ZNF812_uc010xkx.2_Silent_p.G123G	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGATTTCCCATGTTTCT	0.348000														29			23		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78209377	78209377	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:78209377C>T	uc010bky.2	-	12	1551	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	LOC645752_uc010umq.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		GGGAGAGCCACGAGGCTCAAC	0.592000														9			9		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12952444	12952444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:12952444C>T	uc003wwm.2	-	11	3794	c.3350G>A	c.(3349-3351)gGg>gAg	p.G1117E	DLC1_uc003wwk.1_Missense_Mutation_p.G680E|DLC1_uc003wwl.1_Missense_Mutation_p.G714E|DLC1_uc011kxx.1_Missense_Mutation_p.G606E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1117	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.S1116L(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGACTTGACCCCCGATTTTCT	0.517000														23			22		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131119	45131119	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:45131119G>A	uc002xsa.3	-	3	1390	c.928C>T	c.(928-930)Cat>Tat	p.H310Y	ZNF334_uc002xsb.3_Missense_Mutation_p.H249Y|ZNF334_uc002xsd.3_Missense_Mutation_p.H249Y|ZNF334_uc002xsc.3_Missense_Mutation_p.H287Y|ZNF334_uc010ghl.3_Missense_Mutation_p.H286Y			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H287Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTCCAGTATGAATTCTTCGG	0.418000														89			64		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805913	31805913	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:31805913G>A	uc002rnw.1	-	0	128	c.57C>T	c.(55-57)gcC>gcT	p.A19A		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	19					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTGCCCCAAGGGCGACCAAAG	0.701000														13			8		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4842142	4842142	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4842142G>A	uc003bqc.3	+	52	7270	c.6920G>A	c.(6919-6921)tGg>tAg	p.W2307*	ITPR1_uc021wsi.1_Nonsense_Mutation_p.W2274*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.W2259*|ITPR1_uc011asu.2_Intron|ITPR1_uc010hcc.2_Nonsense_Mutation_p.W42*|ITPR1_uc011asv.2_5'UTR	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2322					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGACTCCTGTGGACAGCCATG	0.537000														45			30		0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733170	52733170	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:52733170G>A	uc003xqx.4	-	5	1156	c.815C>T	c.(814-816)gCt>gTt	p.A272V	PCMTD1_uc011ldm.2_Missense_Mutation_p.A142V|PCMTD1_uc011ldn.2_Missense_Mutation_p.A84V|PCMTD1_uc010lya.3_Missense_Mutation_p.A196V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.R271M(2)|p.A272S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTTGGGTGGAGCCCTTTGAGG	0.423000														170			9		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944966	4944966	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4944966G>A	uc010qyr.2	-	0	604	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAACAAAGAGCCCATAGATG	0.537000														57			40		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405587	68405587	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:68405587C>T	uc002ewa.3	-	2	920	c.498G>A	c.(496-498)caG>caA	p.Q166Q	SMPD3_uc010cfe.3_Silent_p.Q166Q|SMPD3_uc010vlh.2_Silent_p.Q166Q	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	166					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AAATTTTGATCTGGGGCCGGG	0.632000														12			7		0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978632	38978632	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38978632C>T	uc002hvi.3	-	0	232	c.206G>A	c.(205-207)gGc>gAc	p.G69D	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	69	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ACCTGATGAGCCCCCAAAGCA	0.537000														66			46		0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	17809879	17809879	+	Missense_Mutation	SNP	G	A	A	rs147331551	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:17809879G>A	uc001mnm.3	-	10	1210	c.1130C>T	c.(1129-1131)cCg>cTg	p.P377L	SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_3'UTR	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA.	377					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	Ran guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						AGCCTGCACCGGCTTTGGGGC	0.612000														30			25		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54011359	54011359	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:54011359A>G	uc001jjm.3	+	9	1289	c.1061A>G	c.(1060-1062)aAc>aGc	p.N354S	PRKG1_uc001jjo.3_Missense_Mutation_p.N369S|PRKG1_uc009xow.2_Missense_Mutation_p.N72S	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	354					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTCTTCGCCAACCTGAAGCTG	0.418000														36			15		0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207305068	207305068	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:207305068C>T	uc001hfo.3	+	7	1261	c.1067C>T	c.(1066-1068)cCa>cTa	p.P356L		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	356	Sushi 5.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AGATGGACCCCATACCAAGGA	0.373000														49			32		0	0	1	0	0
SLC25A30	253512	broad.mit.edu	37	13	45975333	45975333	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:45975333G>A	uc001vag.3	-	6	636	c.499C>T	c.(499-501)Ctt>Ttt	p.L167F	SLC25A30_uc010tfs.2_Missense_Mutation_p.L92F|SLC25A30_uc010tft.2_Missense_Mutation_p.L116F|SLC25A30_uc001vah.3_Missense_Mutation_p.L92F|SLC25A30_uc001vaf.3_Missense_Mutation_p.L23F	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	Homo sapiens solute carrier family 25, member 30 (SLC25A30), nuclear gene encoding mitochondrial protein, mRNA.	167					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TGCGCAGTAAGGGACACACCC	0.433000														26			16		0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114714	177114714	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:177114714G>A	uc003iuo.1	-	1	347	c.238C>T	c.(238-240)Cta>Tta	p.L80L		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	80					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		tctgcaattaggaagccattt	0.318000														26			26		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277969	139277969	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:139277969G>A	uc003yuy.3	-	3	445	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	92										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGAGTAAATGAACTCGGAAG	0.473000										HNSCC(54;0.14)				34			37		0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27802764	27802764	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:27802764G>A	uc002doz.2	-	6	1008	c.923C>T	c.(922-924)tCc>tTc	p.S308F	GSG1L_uc010bya.1_Missense_Mutation_p.S257F|GSG1L_uc010bxz.1_Missense_Mutation_p.S171F|GSG1L_uc002doy.2_Missense_Mutation_p.S153F	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	308						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCGGGGCCAGGAATCCGCCAT	0.652000														20			10		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239016464	239016464	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:239016464G>A	uc002vxq.4	+	3	815	c.705G>A	c.(703-705)cgG>cgA	p.R235R	ESPNL_uc010fyw.3_5'UTR	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	235										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCACGGCACGGGACAATGAGG	0.647000														4			5		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828828	125828828	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:125828828C>T	uc003eim.1	-	19	2496	c.2306G>A	c.(2305-2307)gGg>gAg	p.G769E	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.G668E|ALDH1L1_uc003ein.1_Missense_Mutation_p.G304E	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	769	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGTGTGGCCCCTTCCTTCAC	0.632000														30			22		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815665	82815665	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:82815665C>T	uc003kii.3	+	6	1896	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P514S|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	514	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAAGGAATTCCCTGTAACTGA	0.378000														86			73		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050037	42050037	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:42050037G>A	uc001cgz.4	-	3	1645	c.432C>T	c.(430-432)ctC>ctT	p.L144L	HIVEP3_uc001cha.4_Silent_p.L144L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	144					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAAGGAAGGAGCTGGCTCT	0.612000														172			21		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119985	55119985	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55119985C>T	uc003pcl.3	+	2	769	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R87W	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	152					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGCCTTGGATCGGTGGTATGC	0.453000														71			32		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117198958	117198958	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117198958G>A	uc003pxm.3	+	2	287	c.224_splice	c.e2-1	p.E75_splice		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	75					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGGCAATCAGAAATGCACTT	0.408000														26			22		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43047108	43047108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:43047108G>A	uc002xma.3	+	5	781	c.692G>A	c.(691-693)gGa>gAa	p.G231E	HNF4A_uc002xlt.3_Missense_Mutation_p.G209E|HNF4A_uc002xlu.3_Missense_Mutation_p.G209E|HNF4A_uc002xlv.3_Missense_Mutation_p.G209E|HNF4A_uc002xly.3_Missense_Mutation_p.G231E|HNF4A_uc010ggq.3_Missense_Mutation_p.G224E|HNF4A_uc002xlz.3_Missense_Mutation_p.G231E	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	231					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGCTCGGAGCCACCAAG	0.617000														69			51		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4733026	4733026	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4733026G>A	uc003bqc.3	+	30	4332	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	ITPR1_uc021wsi.1_Missense_Mutation_p.E1334K|ITPR1_uc021wsj.1_Missense_Mutation_p.E1319K|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1343					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTTATGGCCGAGGTGATTGT	0.358000														5			10		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10335516	10335516	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:10335516C>T	uc001aqx.4	+	10	1115	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	KIF1B_uc001aqv.4_Missense_Mutation_p.P299S|KIF1B_uc001aqw.4_Missense_Mutation_p.P299S|KIF1B_uc001aqy.3_Missense_Mutation_p.P305S|KIF1B_uc001aqz.3_Missense_Mutation_p.P305S|KIF1B_uc001ara.3_Missense_Mutation_p.P305S|KIF1B_uc001arb.3_Missense_Mutation_p.P305S	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	305	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATTTTATTCCCTACAGGGA	0.318000														15			38		0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5016889	5016889	+	Missense_Mutation	SNP	G	A	A	rs137887145	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:5016889G>A	uc003gig.3	-	3	425	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	Homo sapiens cytokine-like 1 (CYTL1), mRNA.	134					signal transduction	extracellular space|soluble fraction	receptor binding	p.R134H(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488000														26			11		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583863	47583863	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:47583863C>T	uc002ioz.4	+	2	536	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	137					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TCGTGTTCTCCTGCCAGGACA	0.692000														20			9		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71571180C>T	uc021tkt.1	+	0	600	c.600C>T	c.(598-600)atC>atT	p.I200I	CHST4_uc002fan.3_Silent_p.I200I|CHST4_uc002fao.3_Silent_p.I200I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	200					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000														49			33		0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281473	145281473	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:145281473T>G	uc001emn.4	+	3	773	c.403T>G	c.(403-405)Ttc>Gtc	p.F135V	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.F135V|NOTCH2NL_uc001emo.2_Missense_Mutation_p.F135V|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	135	EGF-like 4.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCTCACAGGCTTCACAGGGCA	0.552000														495			105		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420749	23420749	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:23420749G>A	uc001bgk.2	-	3	556	c.6C>T	c.(4-6)gcC>gcT	p.A2A	LUZP1_uc010odv.1_Silent_p.A2A|LUZP1_uc001bgl.3_Silent_p.A2A|LUZP1_uc001bgm.1_Silent_p.A2A	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	2						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGTAAATTCGGCCATGTCTA	0.507000														7			24		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179598	87179598	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:87179598C>T	uc003uiz.2	-	12	1732	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L	ABCB1_uc011khc.2_Silent_p.L349L	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	413	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTTCAGGTTCAGACCCTTCA	0.488000														30			28		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76600944	76600944	+	Splice_Site	SNP	G	A	A	rs113436141		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76600944G>A	uc003pih.1	+	27	3147	c.2868_splice	c.e27-1	p.M956_splice	MYO6_uc003pig.1_Splice_Site_p.M956_splice|MYO6_uc003pii.1_Splice_Site_p.M956_splice|MYO6_uc003pij.1_5'Flank	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	956	Glu-rich.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTTTATTAGGAAACTTGAG	0.284000														22			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4495021	4495021	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:4495021G>A	uc022aqr.1	-	1	535	c.145C>T	c.(145-147)Cct>Tct	p.P49S		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	49	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCCGTGAGGAAACCCTGGG	0.488000														43			29		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31341701	31341701	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:31341701C>A	uc021sia.1	-	11	1814	c.1500G>T	c.(1498-1500)ttG>ttT	p.L500F	TRPM1_uc010azy.3_Missense_Mutation_p.L368F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.L483F|TRPM1_uc001zfm.3_Missense_Mutation_p.L461F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	461					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCGCTTGCTCCAAAGCATTCA	0.527000														50			40		1.47197e-15	1.49015e-15	1	1	0
LIPN	643418	broad.mit.edu	37	10	90537838	90537838	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:90537838C>T	uc010qmw.2	+	8	1036	c.1036C>T	c.(1036-1038)Ctc>Ttc	p.L346F		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	346					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		ACATGATGTCCTCGTAACACC	0.473000														49			24		0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4848235	4848235	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4848235C>T	uc002fzs.3	+	9	1426	c.977C>T	c.(976-978)cCa>cTa	p.P326L	RNF167_uc002fzu.3_Missense_Mutation_p.P325L|RNF167_uc002fzy.3_Missense_Mutation_p.P125L	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	Homo sapiens ring finger protein 167 (RNF167), mRNA.	326					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCCTTAGCCCCAGCTCCCCTT	0.572000														84			88		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830867	7830867	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7830867C>T	uc010dvt.3	+	3	676	c.558C>T	c.(556-558)acC>acT	p.T186T	CLEC4M_uc010xjv.1_Silent_p.T158T|CLEC4M_uc002mhy.2_Silent_p.T130T|CLEC4M_uc002mih.3_Silent_p.T163T|CLEC4M_uc010xjw.2_Silent_p.T165T|CLEC4M_uc010dvs.3_Silent_p.T162T|CLEC4M_uc010xjx.2_Silent_p.T135T|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Silent_p.T158T|CLEC4M_uc002mia.3_Intron	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	186	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGGAGCTGACCCGGCTGAAGG	0.587000														161			8		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432503	135432503	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135432503C>T	uc004ezu.1	+	5	6929	c.6638C>T	c.(6637-6639)tCg>tTg	p.S2213L	GPR112_uc010nsb.1_Missense_Mutation_p.S2008L|GPR112_uc010nsc.1_Missense_Mutation_p.S1980L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2213					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)					TCACCAATATCGTCCTTTTTT	0.458000														63			19		0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25034302	25034302	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:25034302A>G	uc001rgd.4	-	3	850	c.323T>C	c.(322-324)aTt>aCt	p.I108T	BCAT1_uc001rgc.3_Missense_Mutation_p.I107T|BCAT1_uc010six.2_Missense_Mutation_p.I120T|BCAT1_uc010siy.2_Intron|BCAT1_uc001rge.4_Intron	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	108					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AAACAGTCGAATTTTATTATC	0.398000														42			21		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222168	42222168	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42222168G>A	uc002orl.3	+	5	1480	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	CEACAM5_uc002orj.1_Silent_p.G452G	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	453	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGATTGATGGGAACATCCAGC	0.517000														65			35		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5763275	5763275	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:5763275G>A	uc002mda.3	+	15	1538	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	CATSPERD_uc010duj.1_Missense_Mutation_p.E151K	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	493						integral to membrane		p.E493K(1)									AGCAAACAAGGAAATTTCATG	0.443000														29			19		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55962423	55962423	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:55962423G>A	uc003has.3	-	18	3003	c.2701C>T	c.(2701-2703)Ctt>Ttt	p.L901F	KDR_uc003hat.1_Missense_Mutation_p.L901F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	901	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCACCTAGAAGGTTGACCACA	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				34			30		0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373427	65373427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65373427G>A	uc001oew.3	-	6	2222	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	MAP3K11_uc001oev.3_5'UTR|MAP3K11_uc010rol.2_Nonsense_Mutation_p.Q320*|MAP3K11_uc001oex.1_Nonsense_Mutation_p.Q84*	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	577					G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.Q577H(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTCCCATTCTGGGCTTCCCCA	0.617000														14			10		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412548	126412548	+	Silent	SNP	G	A	A	rs144832106		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126412548G>A	uc003ifj.4	+	16	14571	c.14571G>A	c.(14569-14571)agG>agA	p.R4857R	FAT4_uc011cgp.2_Silent_p.R3098R|FAT4_uc003ifi.1_Silent_p.R2334R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4857					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						AATATGACAGGGAGAAGCCAA	0.428000														62			46		0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41244301	41244301	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:41244301G>A	uc003aze.3	-	2	384	c.241C>T	c.(241-243)Cta>Tta	p.L81L	ST13_uc011aow.2_Silent_p.L71L	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	81							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TCCTCACCTAGATCACTTTCC	0.363000														7			24		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504379	16504379	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:16504379C>T	uc003goz.3	-	7	1325	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Missense_Mutation_p.E309K|LDB2_uc003gpb.3_Missense_Mutation_p.E335K|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	337							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAGTCCTCCTCGTCGTCCATG	0.537000														114			90		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48914966	48914966	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:48914966G>A	uc002rwu.4	-	10	2040	c.1970C>T	c.(1969-1971)tCa>tTa	p.S657L	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	657					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GGTGTAAGCTGAAAAATCTTT	0.408000														78			67		0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75524537	75524537	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:75524537G>A	uc004ajd.3	-	10	1656	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	ALDH1A1_uc011lsh.2_Silent_p.L368L|ALDH1A1_uc011lsg.2_Silent_p.L273L	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	447					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCTGCCTGCAGAGCAGAGGAG	0.388000														51			37		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913370	36913370	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:36913370C>T	uc002odz.1	+	0		c.1295C>T								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TGGAGAAGGCCCAGGGCCCCA	0.483000														24			16		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806855	143806855	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143806855C>T	uc011ktz.2	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCATGTACTTCTTCCTCTCAC	0.468000														142			92		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145158826	145158826	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:145158826C>T	uc002tvu.3	-	6	1378	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZEB2_uc010zbm.2_Missense_Mutation_p.E262K|ZEB2_uc002tvv.3_Missense_Mutation_p.E280K|ZEB2_uc010fnp.3_Missense_Mutation_p.E194K|ZEB2_uc010fnq.1_Missense_Mutation_p.E315K	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	286						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGCCACACTCTGTGCATTTG	0.438000														64			41		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49701568	49701568	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:49701568C>T	uc003jom.3	-	4	840	c.591G>A	c.(589-591)ggG>ggA	p.G197G	EMB_uc010ivq.3_5'Flank|EMB_uc003jol.3_Silent_p.G128G|EMB_uc011cpy.2_Silent_p.G147G	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	197	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCTTTACACTCCCATTACTAC	0.323000														47			36		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280166	73280166	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:73280166G>A	uc003tzk.2	+	2	797	c.761G>A	c.(760-762)gGa>gAa	p.G254E	WBSCR28_uc003tzl.2_Missense_Mutation_p.G153E	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	254						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TCAGAGTCTGGAACAGTTTTG	0.567000														102			65		0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005464	30005464	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30005464C>T	uc002dve.3	-	3	1493	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA.	334					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTTCCTCGTCCTCGCTGCTTC	0.572000														55			54		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145532258	145532258	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:145532258G>A	uc001eoa.3	+	7	978	c.902G>A	c.(901-903)gGg>gAg	p.G301E	ITGA10_uc010oyv.2_Missense_Mutation_p.G170E|ITGA10_uc009wiw.3_Missense_Mutation_p.G158E|ITGA10_uc010oyw.2_Missense_Mutation_p.G246E	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	301	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACACGCTATGGGATTGCAGTG	0.542000														53			17		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303559	22303559	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:22303559C>T	uc001bfk.3	+	0	142	c.27C>T	c.(25-27)ctC>ctT	p.L9L	CELA3B_uc009vqf.3_Silent_p.L8L	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	9					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						TCAGTTCCCTCCTCCTTGTGG	0.527000														30			88		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69445306	69445306	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:69445306T>C	uc010lyz.3	+	6	1318	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	C8orf34_uc010lyy.2_Missense_Mutation_p.F343L|C8orf34_uc003xyb.3_Missense_Mutation_p.F232L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	257					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCAAGATTCTTTTGAGTCCAT	0.368000														67			49		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954336	35954336	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35954336G>A	uc003jjv.2	-	6	1733	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	514						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCCCACGCAGCCACCTGGCC	0.587000														30			19		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015923	33015923	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:33015923G>A	uc001wrq.3	+	3	2234	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K	AKAP6_uc010aml.3_Silent_p.K685K	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	688					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGTCAAAAAGAAGCATACAA	0.443000														63			40		0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66134957	66134957	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:66134957G>A	uc001oht.3	-	6	940	c.711C>T	c.(709-711)acC>acT	p.T237T	SLC29A2_uc009yrf.3_Silent_p.T117T|SLC29A2_uc001ohu.3_Silent_p.T237T|SLC29A2_uc001ohv.3_Silent_p.T237T|AX747485_uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	237					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GCTCAGCTTTGGTCTCCAGCT	0.582000														86			48		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254288	3254288	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3254288C>T	uc010uwu.2	+	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGTTCCTCCTCCTGGGACTCT	0.557000														35			26		0	0	1	0	0
RAB6A	5870	broad.mit.edu	37	11	73441840	73441840	+	Silent	SNP	G	A	A	rs142720463		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:73441840G>A	uc001ouf.3	-	1	620	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RAB6A_uc021qnd.1_5'UTR|RAB6A_uc001oue.3_Silent_p.F33F|RAB6A_uc009yts.3_Silent_p.F33F|RAB6A_uc001oug.3_Silent_p.F33F	NM_198896	NP_942599	P20340	RAB6A_HUMAN	Homo sapiens RAB6A, member RAS oncogene family (RAB6A), transcript variant 2, mRNA.	33					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic vesicle|cytosol|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						TGTCATACATGAATCTGGTGA	0.289000														62			35		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33148450	33148450	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:33148450C>T	uc003ocx.1	-	10	1507	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.E341K|COL11A2_uc003ocz.1_Missense_Mutation_p.E320K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	427	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTTACCCTCTCTCCAGGGTCT	0.592000														13			7		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10401153C>T	uc002gmo.3	-	30	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1421						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCTGCTTCGTCTTCTCAA	0.473000														63			34		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6732516	6732516	+	Silent	SNP	G	A	A	rs138508139	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:6732516G>A	uc002mfp.3	-	10	1024	c.978C>T	c.(976-978)ggC>ggT	p.G326G	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	326						integral to membrane		p.E325K(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGACGGCAAGGCCTTCGATGG	0.627000														34			24		0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172585282	172585282	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:172585282C>T	uc002uha.1	+	13	1478	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	DYNC1I2_uc002uhb.1_Missense_Mutation_p.S412F|DYNC1I2_uc010zds.1_Missense_Mutation_p.S430F|DYNC1I2_uc002uhc.3_Missense_Mutation_p.S412F|DYNC1I2_uc002uhe.1_Missense_Mutation_p.S438F|DYNC1I2_uc002uhf.1_Missense_Mutation_p.S412F|DYNC1I2_uc010zdt.1_Missense_Mutation_p.S430F|DYNC1I2_uc002uhg.1_Missense_Mutation_p.S353F|DYNC1I2_uc010zdu.1_Missense_Mutation_p.S161F	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	438					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ACATCTATGTCCTTCCCTGTT	0.408000														14			12		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178897012	178897012	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:178897012G>A	uc010iru.3	+	4		c.677G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		TGGGGCACGGGAAAGGGGTTG	0.413000														74			56		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913327	6913327	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6913327G>A	uc010rau.2	-	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCAGGTCATGATGTTAGGGT	0.498000														56			47		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67912304	67912304	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:67912304C>T	uc002eur.3	+	8	1285	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.S281F|EDC4_uc002eus.3_Missense_Mutation_p.S79F	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	349					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CGGCCCCTCTCCTGCCTCCTG	0.617000														85			65		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041145	56041145	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56041145G>A	uc010ygc.2	-	3	1017	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	334							ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCTCCGCCTCGCCCTCCCGCT	0.731000														13			12		0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92149380	92149380	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:92149380G>A	uc001doh.3	-	16	2987	c.2472C>T	c.(2470-2472)tcC>tcT	p.S824S	TGFBR3_uc009wde.3_Silent_p.S519S|TGFBR3_uc010osy.2_Silent_p.S782S|TGFBR3_uc001doi.3_Silent_p.S823S|TGFBR3_uc001doj.3_Silent_p.S823S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	824					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGCTGGCGGGGAGGTGGGGA	0.567000														14			4		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782703	134782703	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:134782703C>T	uc003lav.3	-	0	336	c.96G>A	c.(94-96)ggG>ggA	p.G32G		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	32						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGGGTTTCCCCACCAGCTC	0.592000														16			10		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464411	104464411	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:104464411C>T	uc004ema.3	-	2	579	c.467G>A	c.(466-468)gGg>gAg	p.G156E	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.G156E	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	156						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCACCCTGCCCCCTGCTCCCA	0.662000														2			19		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111985166	111985166	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111985166C>T	uc003dyu.3	-	7	1019	c.797G>A	c.(796-798)gGa>gAa	p.G266E	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.G266E	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	266					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AGTAAATATTCCTGACATTCC	0.299000														44			27		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362266	362266	+	Silent	SNP	G	A	A	rs139166981		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:362266G>A	uc002lol.3	-	7	1117	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	THEG_uc002lom.3_Silent_p.A334A	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	358					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.A358T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		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)		AGCTCATAGAGGCGAGGGGAC	0.602000														66			38		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112910842	112910842	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:112910842C>T	uc001ttx.3	+	6	1231	c.851C>T	c.(850-852)cCc>cTc	p.P284L	PTPN11_uc001ttw.1_Missense_Mutation_p.P284L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	284	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						aacaTCCTGCCCTGTAAGTAT	0.413000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					36			26		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8132758	8132758	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:8132758G>A	uc002gkq.4	-	18	3077	c.3018C>T	c.(3016-3018)ccC>ccT	p.P1006P	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1006					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						TGTGGGGCAGGGGAATGCTAA	0.527000														57			62		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277457	238277457	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:238277457C>T	uc002vwl.2	-	9	4934	c.4649G>A	c.(4648-4650)gGa>gAa	p.G1550E	COL6A3_uc002vwo.2_Missense_Mutation_p.G1344E|COL6A3_uc010znj.1_Missense_Mutation_p.G943E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1550	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G1550E(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGATTTTCCACCCAGGAC	0.562000														85			49		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9224869	9224869	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:9224869G>A	uc003jek.2	-	7	1275	c.563C>T	c.(562-564)cCa>cTa	p.P188L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	188	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATCACGTCCTGGAAAATCCAT	0.557000														27			15		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65108013	65108013	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65108013C>T	uc001odm.3	+	1	323	c.190C>T	c.(190-192)Cca>Tca	p.P64S	DPF2_uc010roe.2_Missense_Mutation_p.P64S	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	64					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACACCGGGGTCCAGGTGAGGG	0.552000														38			37		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131072	130131072	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:130131072G>A	uc001qga.3	-	1	1091	c.697C>T	c.(697-699)Cct>Tct	p.P233S	ZBTB44_uc001qgb.4_Missense_Mutation_p.P233S|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.P233S|ZBTB44_uc001qfz.3_Missense_Mutation_p.P233S	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P233H(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ATTCCAAAAGGAAAAGTCCAA	0.423000														29			25		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330498	125330498	+	Silent	SNP	G	A	A	rs148504229		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125330498G>A	uc004bmp.1	-	0	259	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTTTCTGACAGGAAGTTCATC	0.463000														58			44		0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105516	14105516	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:14105516G>A	uc002kst.2	-	2	1236	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCCAGTATGGATTCTCTGAT	0.433000														125			41		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016458	22016458	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22016458C>T	uc010tzk.1	-	0	421	c.259G>A	c.(259-261)Gat>Aat	p.D87N						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		GTGCCAATATCTGACAGCTGA	0.393000														32			9		0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088791	65088791	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65088791C>T	uc021qli.1	+	0	422	c.422C>T	c.(421-423)tCc>tTc	p.S141F	CDC42EP2_uc001odl.3_Missense_Mutation_p.S141F	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	141					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCTCAGCCTTCCCCACAGGAG	0.667000														23			27		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26775274	26775274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:26775274G>A	uc001rhg.3	-	24	3604	c.3187C>T	c.(3187-3189)Cat>Tat	p.H1063Y		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1063					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATGATCAGATGAATGAGGACC	0.438000														29			20		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416446	145416446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:145416446C>T	uc001eni.2	+	3	1116	c.791C>T	c.(790-792)tCg>tTg	p.S264L	HFE2_uc001enk.2_Missense_Mutation_p.S151L|HFE2_uc001enj.2_Missense_Mutation_p.S38L|HFE2_uc001enl.2_Missense_Mutation_p.S38L|HFE2_uc021oux.1_Missense_Mutation_p.S38L	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	264					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAGTTTGTCGATTCAAACT	0.493000														117			39		0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398220	75398220	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:75398220C>T	uc002jts.4	+	2	282	c.156C>T	c.(154-156)ctC>ctT	p.L52L	SEPT9_uc010wtk.2_Silent_p.L33L|SEPT9_uc002jtt.4_5'UTR|SEPT9_uc002jtu.4_Silent_p.L34L|SEPT9_uc002jtv.3_Silent_p.L45L|SEPT9_uc002jtw.3_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	52					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CTCCCCTACTCCGAGCCACTG	0.587000														27			20		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484075	128484075	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128484075G>A	uc003vnz.4	+	19	3156	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K	FLNC_uc003voa.4_Missense_Mutation_p.E983K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	983					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGTGGGACAGGAACAAGCATT	0.632000														35			26		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149754576	149754576	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:149754576C>T	uc003lry.3	+	9	1446	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	TCOF1_uc003lrw.3_Silent_p.S446S|TCOF1_uc003lrz.3_Silent_p.S446S|TCOF1_uc011dch.2_Silent_p.S446S|TCOF1_uc003lrx.3_Silent_p.S369S|TCOF1_uc003lsa.3_Silent_p.S369S|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	446					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGAGTCCCCCAGGAAAG	0.667000														30			15		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132740	52132740	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:52132740C>T	uc002pxe.3	-	2	710	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	191	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.E191*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CGGGTGGTCTCGGGGTCCAGG	0.652000														15			6		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157551	22157551	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22157551G>A	uc021urr.1	-	3	434	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF208_uc002nqo.1_Silent_p.F95F	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACTTTTTGGAAAGAATCTT	0.333000														47			35		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397803	10397803	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:10397803C>T	uc002mnr.2	+	0	161	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	ICAM4_uc002mns.2_Missense_Mutation_p.L39F|ICAM4_uc002mnt.2_Missense_Mutation_p.L39F|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	39					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGGTAGCCCTCTCGCGCCCTC	0.662000														12			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480413	179480413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179480413C>T	uc021vsy.1	-	206	40936	c.40711G>A	c.(40711-40713)Gaa>Aaa	p.E13571K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7266K|TTN_uc021vta.1_Missense_Mutation_p.E7199K|TTN_uc021vtb.1_Missense_Mutation_p.E7074K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14498	Ig-like 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGCAGGTTCTCCAGGGCCA	0.368000														131			63		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671373	31671373	+	Missense_Mutation	SNP	C	T	T	rs140887073		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31671373C>T	uc010zue.2	+	2	385	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	124						cytoplasm|extracellular region	lipid binding										CAGTGGCTATCGCAGTGCCGA	0.592000														46			32		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247420025	247420025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:247420025C>T	uc010pyu.2	+	1	649	c.649C>T	c.(649-651)Cac>Tac	p.H217Y		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	218					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			GACTGTTTTTCACACTAATGA	0.458000														275			94		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551470	99551471	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:99551470_99551471GG>AA	uc010nmz.3	-	5	4927_4928	c.3251_3252CC>TT	c.(3250-3252)acc>aTT	p.T1084I	PCDH19_uc004efw.4_Missense_Mutation_p.T1036I|PCDH19_uc004efx.4_Missense_Mutation_p.T1037I	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1084					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCAGGGCAATGGTGTAAGACAC	0.589000														9			38		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405280	1405280	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1405280G>A	uc009xhq.3	-	2	1346	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	340	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTGGATGTCGAACAGCTCCT	0.746000														5			6		0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	26961971	26961971	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:26961971C>T	uc010mja.3	+	1	133	c.6C>T	c.(4-6)gcC>gcT	p.A2A	IFT74_uc010mjb.3_Silent_p.A2A|IFT74_uc003zqf.4_Silent_p.A2A|IFT74_uc003zqg.4_Silent_p.A2A	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	2						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AAACAATGGCCAGCAATCACA	0.428000														14			32		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7516115	7516115	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7516115C>T	uc002mgi.3	+	5	1507	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	ARHGEF18_uc010xjm.1_Silent_p.Y260Y|ARHGEF18_uc002mgh.3_Silent_p.Y260Y|ARHGEF18_uc002mgj.1_Silent_p.Y61Y	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	418	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TAACCAAATACCCAGTGCTGG	0.572000														31			19		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54542603	54542603	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54542603G>A	uc021smr.1	+	5	3403	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K	UNC13C_uc021sms.1_Missense_Mutation_p.E1137K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1137					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAATGCCACGAAAAGTGTCA	0.507000														32			32		0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53741415	53741415	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:53741415G>A	uc001cvi.2	-	5	1131	c.894C>T	c.(892-894)acC>acT	p.T298T	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Silent_p.T298T|LRP8_uc001cvk.2_Intron|LRP8_uc001cvl.2_Silent_p.T169T	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	298	LDL-receptor class A 7.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	p.G297D(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCCACGGCAGGTGCCCAGTG	0.592000														31			15		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085802	42085802	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42085802C>T	uc002ore.4	+	2	617	c.521C>T	c.(520-522)tCt>tTt	p.S174F	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.S174F	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	174	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ACTGGAACCTCTTTCCAGTGG	0.537000														31			26		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22102213G>A	uc010tmc.2	-	0	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAGGTAGATGAAAATACAGG	0.547000														33			33		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476139	476139	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:476139C>T	uc003jbe.2	-	13	2248	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	SLC9A3_uc011clx.1_Silent_p.E703E|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	712						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCGCACCTTTCTCCTTGATGG	0.642000														9			11		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4926995	4926995	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:4926995C>T	uc002cyb.3	+	15	3487	c.3148C>T	c.(3148-3150)Cct>Tct	p.P1050S	UBN1_uc010uxw.2_Missense_Mutation_p.P1050S|UBN1_uc002cyc.3_Missense_Mutation_p.P1050S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1050					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AACCCCTGTCCCTATTCCTGT	0.587000														147			101		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730681	92730681	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:92730681G>A	uc003umf.3	-	2	5000	c.4730C>T	c.(4729-4731)tCc>tTc	p.S1577F	SAMD9_uc003umg.3_Missense_Mutation_p.S1577F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1577F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1577				S -> P (in Ref. 7; BAA90932).		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)			GCCTCCAATGGAAAATCCCAG	0.383000														88			45		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2594114	2594114	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:2594114C>T	uc001lwn.3	+	5	927	c.819C>T	c.(817-819)ctC>ctT	p.L273L	KCNQ1_uc009ydp.1_Silent_p.L57L|KCNQ1_uc001lwo.3_Silent_p.L146L	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	273			L -> F (in LQT1; functional channel with reduced macroscopic conductance (homomultimers); alteration of normal KVLQT1 function (mut/wt homomultimers)).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCCTGGGCCTCATCTTCTCCT	0.612000														20			15		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581974	84581975	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:84581974_84581975GG>AT	uc002bjz.4	+	15	2055_2056	c.1831_1832GG>AT	c.(1831-1833)ggc>ATc	p.G611I	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G611I	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	611	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGTGTGAAGGCCCCAAGCTG	0.629000														44			17		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813786	158813786	+	Silent	SNP	G	A	A	rs140332455		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158813786G>A	uc001fsz.1	+	3	644	c.444G>A	c.(442-444)agG>agA	p.R148R		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	148					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.R148R(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGCCAAAAGGAATAAGGTGT	0.443000														183			64		0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78618637	78618637	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:78618637C>T	uc004edh.3	-	3	581	c.244_splice	c.e3-1	p.S82_splice	ITM2A_uc011mqr.2_Splice_Site_p.S38_splice	NM_004867	NP_004858	O43736	ITM2A_HUMAN	Homo sapiens integral membrane protein 2A (ITM2A), transcript variant 1, mRNA.	82						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAATGGTGCTCTAAAAGACAA	0.393000														2			10		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092805	147092805	+	Missense_Mutation	SNP	G	A	A	rs76475298	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:147092805G>A	uc003weu.2	+	9	2119	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	535	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAATTTATACGAAGTGGCACA	0.438000										HNSCC(39;0.1)				106			75		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996894	154996894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:154996894G>A	uc002tyt.4	+	1	291	c.187G>A	c.(187-189)Gct>Act	p.A63T	GALNT13_uc002tyr.4_Missense_Mutation_p.A63T|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	63						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGGGAAAAGCTGTGTTGAT	0.368000														33			24		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566767	20566767	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:20566767C>T	uc002dhj.4	-	4	630	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_uc002dhk.4_Missense_Mutation_p.M140I|ACSM2B_uc010bwf.1_Missense_Mutation_p.M140I	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTGGATTTCATCTGGATGG	0.428000														57			56		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53167416	53167416	+	Missense_Mutation	SNP	C	T	T	rs149868801	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53167416C>T	uc001sax.3	-	2	880	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	276	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTTGATTTCATCTTCATAC	0.498000														36			16		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49942790	49942790	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:49942790G>A	uc001ruh.1	+	7	1562	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	KCNH3_uc010smj.1_Silent_p.E374E	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	434					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCAGCAGCGAGGCCAACGGGA	0.687000														15			6		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282568	59282568	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59282568C>T	uc010rkv.2	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATGTACTTCCTGCTCCGCA	0.433000														121			82		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8798261	8798261	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:8798261C>T	uc002knr.2	+	9	2550	c.2408C>T	c.(2407-2409)aCc>aTc	p.T803I	SOGA2_uc002knq.2_Missense_Mutation_p.T762I|SOGA2_uc002kns.2_Missense_Mutation_p.T133I	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1113																	CGGCTGCAGACCGCGGACAGG	0.652000														43			23		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52831940	52831940	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52831940G>A	uc003dfv.2	+	5	693	c.657G>A	c.(655-657)ggG>ggA	p.G219G	ITIH3_uc011bek.1_Silent_p.G219G	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	219					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTTCTCAGGGAAAAAGGTGA	0.557000														5			3		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646650	19646650	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:19646650C>T	uc002gwk.3	-	1	302	c.39G>A	c.(37-39)acG>acA	p.T13T	ALDH3A1_uc010cqu.3_Missense_Mutation_p.E97K|ALDH3A1_uc010vzd.2_Missense_Mutation_p.E97K|ALDH3A1_uc002gwj.3_Missense_Mutation_p.E97K|ALDH3A1_uc010cqv.3_Missense_Mutation_p.E97K|ALDH3A1_uc002gwl.1_Missense_Mutation_p.E24K			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	0					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ATGTAGAGCTCGTCCTGCTGA	0.617000														56			35		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137486537	137486537	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:137486537G>A	uc003lcf.1	-	21	3072	c.3017C>T	c.(3016-3018)cCc>cTc	p.P1006L		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1006					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCTACTAAGGGGTCTCCTTT	0.483000														58			40		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025527	79025527	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79025527C>T	uc003kgc.3	+	1	1011	c.939C>T	c.(937-939)tcC>tcT	p.S313S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	313						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATCAGAGTCCCTAACCTTAA	0.423000														46			28		0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76932975	76932975	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:76932975C>T	uc003kfg.3	-	1	266	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G39W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCCGGATGGCCCCCGGGGTCG	0.692000														3			5		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190586	153190586	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:153190586G>A	uc011dcy.2	+	16	2578	c.2551_splice	c.e16-1	p.G851_splice	GRIA1_uc003lva.4_Splice_Site_p.G841_splice|GRIA1_uc003luy.4_Splice_Site_p.G841_splice|GRIA1_uc003luz.4_Splice_Site_p.G746_splice|GRIA1_uc011dcv.2_Splice_Site|GRIA1_uc011dcw.2_Splice_Site_p.G761_splice|GRIA1_uc011dcx.2_Splice_Site_p.G772_splice|GRIA1_uc011dcz.2_Splice_Site_p.G851_splice	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	841					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTGAAAAGGGTTTTTGTTTG	0.557000														47			25		0	0	1	0	0
ASPA	443	broad.mit.edu	37	17	3397738	3397738	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3397738C>T	uc010ckg.3	+	5	820	c.729C>T	c.(727-729)atC>atT	p.I243I	SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Silent_p.I243I	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA.	243					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CTGCTATCATCCATCCTAATC	0.363000														127			88		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145622994	145622994	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145622994C>T	uc003zcj.3	-	20	2249	c.2174G>A	c.(2173-2175)aGt>aAt	p.S725N		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	725					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCGGGCCACTGCGGCCCCC	0.701000														13			16		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193573	105193573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:105193573G>A	uc004emd.3	+	26	4660	c.4357G>A	c.(4357-4359)Gaa>Aaa	p.E1453K	NRK_uc011msi.2_Intron	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1454	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAGCCCCTGGAAATCATTAT	0.378000										HNSCC(51;0.14)				3			29		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654280	61654281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:61654280_61654281GG>AA	uc003xue.3	+	1	781_782	c.289_290GG>AA	c.(289-291)gga>AAa	p.G97K	CHD7_uc022aux.1_Missense_Mutation_p.G97K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	97					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTGGGAACGGACTCGCGTCT	0.530000														22			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640795	179640795	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179640795C>T	uc021vsy.1	-	27	6021	c.5796G>A	c.(5794-5796)agG>agA	p.R1932R	TTN_uc021vsz.1_Silent_p.R1886R|TTN_uc021vta.1_Silent_p.R1886R|TTN_uc021vtb.1_Silent_p.R1886R|TTN_uc002unb.2_Silent_p.R1932R|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1932							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAATCTTCCCTCTGTTGAA	0.443000														165			109		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16205434	16205434	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16205434C>T	uc010bvi.3	+	21	3249	c.3074C>T	c.(3073-3075)tCa>tTa	p.S1025L	ABCC1_uc010bvj.3_Missense_Mutation_p.S966L|ABCC1_uc010bvk.3_Missense_Mutation_p.S969L|ABCC1_uc010bvl.3_Missense_Mutation_p.S1025L|ABCC1_uc010bvm.3_Missense_Mutation_p.S910L|ABCC1_uc002del.4_Missense_Mutation_p.S919L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1025	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTGGGCATTTCACAAGGTTGG	0.542000														12			11		0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228111911	228111911	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:228111911T>A	uc001hri.2	-	2	631	c.543A>T	c.(541-543)gaA>gaT	p.E181D		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	181					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGCCCAGGAATTCCTTGACGA	0.622000														118			44		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43420354	43420354	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43420354C>T	uc002ovj.1	-	1	449	c.350G>A	c.(349-351)gGa>gAa	p.G117E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.G117E	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	118	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTGTAGGATCCTGCATCCTC	0.468000														230			170		0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47185762	47185762	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:47185762G>A	uc001nds.3	+	8	1046	c.940G>A	c.(940-942)Gta>Ata	p.V314I		NM_001003678	NP_001003678	Q9H6J7	CK049_HUMAN	Homo sapiens chromosome 11 open reading frame 49 (C11orf49), transcript variant 4, mRNA.	0										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CTCAGCTTCGGTACCGACGCC	0.637000														16			14		0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205210	88205210	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:88205210C>T	uc003dqw.3	+	2	725	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	139					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTTGATTTTCGTCGCCTAGG	0.338000														42			31		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634318	70634318	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70634318G>A	uc001xly.3	-	1	1576	c.822C>T	c.(820-822)atC>atT	p.I274I	SLC8A3_uc001xlw.3_Silent_p.I274I|SLC8A3_uc001xlx.3_Silent_p.I274I|SLC8A3_uc001xlz.3_Silent_p.I274I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	274					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTGTCTCTATGATAATTCCTC	0.483000														8			28		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229626	3229626	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:3229626C>T	uc004crg.4	-	6	6775	c.6618G>A	c.(6616-6618)ctG>ctA	p.L2206L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2206	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTTCACCACCAGGGTCCCAT	0.443000														6			33		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551716	99551716	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:99551716G>A	uc010nmz.3	-	5	4682	c.3006C>T	c.(3004-3006)gtC>gtT	p.V1002V	PCDH19_uc004efw.4_Silent_p.V954V|PCDH19_uc004efx.4_Silent_p.V955V	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1002					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CATAAGCCTCGACATCAGCAG	0.582000														7			44		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168250332	168250332	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:168250332G>A	uc010jjg.3	-	6	982	c.562C>T	c.(562-564)Ctc>Ttc	p.L188F	SLIT3_uc003mab.3_Missense_Mutation_p.L188F|SLIT3_uc010jji.2_Missense_Mutation_p.L188F|SLIT3_uc003mac.1_5'UTR	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	188					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTTGTTGAGGGTACTGTGG	0.532000														140			84		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38858436	38858436	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:38858436G>A	uc021yzh.1	+	57	8591	c.8482G>A	c.(8482-8484)Gga>Aga	p.G2828R	DNAH8_uc003ooe.2_Missense_Mutation_p.G2611R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAATTATTGGATGTGGATA	0.358000														104			30		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46334010	46334010	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:46334010G>A	uc021qil.1	+	5	1323	c.888G>A	c.(886-888)agG>agA	p.R296R	CREB3L1_uc021qik.1_Silent_p.R296R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	296					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GAGTCCGGAGGAAAATCAAGA	0.592000			T	FUS	myxofibrosarcoma									19			12		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031693	87031693	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:87031693G>A	uc009wcs.3	+	5	988	c.944G>A	c.(943-945)gGa>gAa	p.G315E	CLCA4_uc009wct.3_Missense_Mutation_p.G78E|CLCA4_uc009wcu.3_Missense_Mutation_p.G135E	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	315	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATAAGTCTGGAAGCATGGGG	0.413000														38			69		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587525	70587525	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:70587525C>T	uc001dep.3	+	24	4599	c.4569C>T	c.(4567-4569)ttC>ttT	p.F1523F	LRRC7_uc009wbg.3_Silent_p.F807F|LRRC7_uc001deq.3_Silent_p.F717F	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1523	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGAAGAGTTTCCAGAACACAG	0.323000														60			66		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139563879	139563879	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139563879C>T	uc021zfy.1	-	9	2004	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	613						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCTGTGGGGCCTGACCGGAAG	0.632000														69			54		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136873274	136873274	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:136873274T>A	uc002tuz.3	-	1	319	c.224A>T	c.(223-225)aAg>aTg	p.K75M	CXCR4_uc002tuy.3_Missense_Mutation_p.K79M|CXCR4_uc010fnk.3_Missense_Mutation_p.K60M	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	75					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CAGCCTGTACTTGTCCGTCAT	0.512000														62			56		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206959	58206959	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58206959G>A	uc010rkh.2	-	0	688	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCATGATGGTGATAAATA	0.398000														39			34		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405808	113405808	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:113405808A>G	uc001tug.3	+	13	3020	c.2933A>G	c.(2932-2934)tAt>tGt	p.Y978C		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	978	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTGACTGTGTATGCCTGGGAG	0.577000														23			18		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100458902	100458902	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:100458902C>T	uc003huw.3	+	5	985	c.623C>T	c.(622-624)tCa>tTa	p.S208L	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	208										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CATGCAACTTCAAAAGGTGCG	0.373000														47			31		0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919354	58919354	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58919354C>T	uc010rkp.2	+	4	440	c.213C>T	c.(211-213)acC>acT	p.T71T	FAM111A_uc010rkq.2_Silent_p.T71T|FAM111A_uc010rkr.2_Silent_p.T71T|FAM111A_uc001nno.3_Silent_p.T71T|FAM111A_uc001nnp.3_Silent_p.T71T|FAM111A_uc001nnq.3_Silent_p.T71T	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	71					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAGACCAGACCATGCCCCAAA	0.408000														124			16		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942983	10942983	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:10942983G>A	uc002yip.1	-	11	972	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.L184L|TPTE_uc002yir.1_Silent_p.L164L|TPTE_uc010gkv.1_Silent_p.L64L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	202					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTCTTAACAGAATAATAAGT	0.289000														137			21		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74411080	74411080	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:74411080G>A	uc003dpm.1	-	9	1405	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	442	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTCTTCCAGGAAGAGAGTGC	0.473000														42			22		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140084	54140084	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54140084C>T	uc002qcf.1	+	2	469	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P140L(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CCTCAAGGTCCCTGCAAATGA	0.527000														91			67		0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12351356	12351356	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:12351356G>A	uc002kqz.2	-	10	1569	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	459					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCGGGGTCCAGGATATCTGGT	0.473000														36			39		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753350	13753350	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13753350C>T	uc003jfd.2	-	62	10906	c.10864G>A	c.(10864-10866)Gaa>Aaa	p.E3622K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3622	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTGGAGTTCATTTCGGCTT	0.333000									Kartagener syndrome					39			20		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78599592	78599592	+	Splice_Site	SNP	C	T	T	rs142199743	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:78599592C>T	uc002jyt.1	+	2	1070	c.265_splice	c.e2+1	p.D89_splice	RPTOR_uc002jys.3_Splice_Site_p.D89_splice|RPTOR_uc010wuf.1_Splice_Site|RPTOR_uc010wug.1_Splice_Site_p.D89_splice	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	89					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AATGCTGGATCGGTGAGTATG	0.622000														38			51		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47630056	47630056	+	Missense_Mutation	SNP	C	T	T	rs141120293		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:47630056C>T	uc001rpq.3	+	1	1735	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	FAM113B_uc001rpn.3_Missense_Mutation_p.R404C|FAM113B_uc021qxi.1_Missense_Mutation_p.R404C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	404	Pro-rich.						hydrolase activity	p.R404C(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TGGCAGGTATCGTCCCCGTGG	0.592000														31			26		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26684664	26684664	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:26684664C>T	uc002rhk.3	-	42	5560	c.5433G>A	c.(5431-5433)aaG>aaA	p.K1811K	OTOF_uc010yla.2_Silent_p.K541K|OTOF_uc002rhh.3_Silent_p.K1044K|OTOF_uc002rhi.3_Silent_p.K1121K|OTOF_uc002rhj.3_Silent_p.K1044K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1811					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGGACTCCTTCTTGGAGA	0.602000														91			67		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856811	4856811	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4856811G>A	uc003bqc.3	+	57	8081	c.7731G>A	c.(7729-7731)ctG>ctA	p.L2577L	ITPR1_uc021wsi.1_Silent_p.L2544L|ITPR1_uc021wsj.1_Silent_p.L2529L|ITPR1_uc011asu.2_Silent_p.L555L|ITPR1_uc010hcc.2_Silent_p.L312L|ITPR1_uc011asv.2_Silent_p.L268L	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2592					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCTTAACCTGATTTTTGGGG	0.433000														67			38		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149314161	149314161	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:149314161C>T	uc003lrg.4	-	1	715	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PDE6A_uc021yfs.1_Intron	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	199	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGGATCCATCCACTTTATTC	0.463000														55			39		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706957	107706957	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:107706957G>A	uc010ljo.1	-	19	2619	c.2535C>T	c.(2533-2535)cgC>cgT	p.R845R	LAMB4_uc003vey.2_Silent_p.R845R|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	845	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GATCACAGCGGCGGCCAGACA	0.537000														11			7		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863032	52863032	+	Silent	SNP	G	A	A	rs139360268	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:52863032G>A	uc001sal.4	-	8	1557	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	503	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGCCACTGCCGACACCGCTGG	0.602000														23			11		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359133	10359133	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10359133G>A	uc002gmn.3	-	17	2165	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	685	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTCTTACCAGGAGTTTTAGT	0.463000														98			65		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245655	59245655	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59245655C>T	uc001nnz.1	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F249L(1)|p.P251T(1)|p.V250V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGCATTTCGTGCCCTGCA	0.547000														108			102		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16267245	16267245	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16267245G>A	uc002den.4	-	20	2720	c.2683C>T	c.(2683-2685)Cct>Tct	p.P895S	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	895					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCTTCTCAGGGACTGACTTG	0.532000														52			26		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862881	23862881	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23862881C>T	uc001wjv.3	-	21	2993	c.2922G>A	c.(2920-2922)gaG>gaA	p.E974E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	974					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACCTTGTTCTCTGTTGCAT	0.552000														64			36		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322418	5322418	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5322418C>T	uc010qza.2	-	0	759	c.759G>A	c.(757-759)atG>atA	p.M253I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGACAGTCCCATCACAGTGA	0.448000														47			31		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637322	248637323	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248637322_248637323CC>TT	uc001iel.1	+	0	671_672	c.671_672CC>TT	c.(670-672)acc>aTT	p.T224I		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTCATACACCCTCATCCTGC	0.559000														132			186		0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392586	22392586	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22392586G>A	uc010aiz.2	+	1	184	c.109G>A	c.(109-111)Gag>Aag	p.E37K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_Non-coding_Transcript					SubName: Full=HADV14S1; Flags: Fragment;																		GCAGGAAAAGGAGGCTGTGAC	0.418000														39			46		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901481	150901481	+	Missense_Mutation	SNP	C	T	T	rs137870998		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:150901481C>T	uc003lue.4	-	17	10686	c.10673G>A	c.(10672-10674)cGa>cAa	p.R3558Q	FAT2_uc003lud.4_Missense_Mutation_p.R251Q	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3558	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGGGTCTCGGTCTGTGGC	0.582000														33			21		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876838	13876838	+	Silent	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13876838T>A	uc003jfd.2	-	21	3393	c.3351A>T	c.(3349-3351)gtA>gtT	p.V1117V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1117	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAACTAATTTTACAATCTCTT	0.373000									Kartagener syndrome					48			31		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852180	75852180	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:75852180C>T	uc001oxc.3	+	14	2064	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	UVRAG_uc010rrw.2_Missense_Mutation_p.S507F|UVRAG_uc001oxd.3_Missense_Mutation_p.S236F|UVRAG_uc010rrx.2_Missense_Mutation_p.S236F|UVRAG_uc010rry.2_Missense_Mutation_p.S164F	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	608					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGGCCGGGTCCGCCAGTGTC	0.612000														37			24		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66230878	66230878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:66230878C>T	uc003hcy.3	-	11	2286	c.2093G>A	c.(2092-2094)gGa>gAa	p.G698E	EPHA5_uc003hcx.3_Missense_Mutation_p.G630E|EPHA5_uc003hcz.3_Missense_Mutation_p.G676E|EPHA5_uc011cah.2_Missense_Mutation_p.G699E|EPHA5_uc011cai.2_Missense_Mutation_p.G677E|EPHA5_uc003hda.2_Missense_Mutation_p.G699E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	698	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTCTCTTTTTCCTGGTAGTTT	0.353000										TSP Lung(17;0.13)				65			53		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318739	31318739	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:31318739G>A	uc010dmg.1	+	10	1426	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	ASXL3_uc002kxq.2_Silent_p.E164E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTGCAGAAGAGGTAGAGACTA	0.393000														35			55		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141619579C>T	uc003vwu.1	+	0	904	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423000														64			38		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288354	33288355	+	Silent	DNP	GT	AA	AA	rs150783256		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:33288354_33288355GT>AA	uc003oec.3	-	3	1257_1258	c.1053_1054AC>TT	c.(1051-1056)gcacta>gcTTta	p.351_352AL>AL	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Silent_p.351_352AL>AL|DAXX_uc021ywo.1_Silent_p.351_352AL>AL|DAXX_uc011dre.2_Silent_p.363_364AL>AL|DAXX_uc003oed.3_Silent_p.351_352AL>AL|DAXX_uc011drd.2_Silent_p.276_277AL>AL|DAXX_uc010juw.2_Silent_p.276_277AL>AL	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	351	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGATCTGATAGTGCAGGGTCAA	0.515000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									73			30		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769295	247769295	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:247769295G>A	uc010pyz.2	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGTCATCATGAACCCACGGC	0.502000														103			132		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266857	266857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:266857C>T	uc001qhw.2	+	6	2440	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*	IQSEC3_uc001qhu.1_Nonsense_Mutation_p.R511*	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	814	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGAAACCTTCGAGGTGAGGA	0.587000														33			30		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646290	15646290	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:15646290C>A	uc001ioc.1	-	19	2035	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	ITGA8_uc010qcb.1_Nonsense_Mutation_p.E664*	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	679					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTTCCCCTTCATTTCTTGCA	0.368000														46			28		2.44723e-14	2.47375e-14	1	1	0
AIPL1	23746	broad.mit.edu	37	17	6331746	6331746	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6331746G>A	uc002gcp.3	-	2	452	c.357C>T	c.(355-357)caC>caT	p.H119H	AIPL1_uc021toq.1_Silent_p.H80H|AIPL1_uc002gcq.3_Silent_p.H59H|AIPL1_uc002gcr.3_Intron|AIPL1_uc010clk.3_Silent_p.H97H|AIPL1_uc010cll.3_Silent_p.H119H|AIPL1_uc021tor.1_Silent_p.H119H|AIPL1_uc002gcs.3_Silent_p.H119H	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	119	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GCCCGCACGTGTGCACGTGCC	0.632000														39			17		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896919	36896919	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36896919G>A	uc003cgj.3	-	11	4410	c.4162C>T	c.(4162-4164)Cac>Tac	p.H1388Y		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1388					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TAGAGCTCGTGGATGGACCAT	0.507000														103			74		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961154	133961154	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:133961154G>A	uc003ytw.3	+	26	5408	c.5367G>A	c.(5365-5367)gtG>gtA	p.V1789V	TG_uc010mdw.3_Silent_p.V548V|TG_uc011ljb.2_Silent_p.V158V	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1789					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q1788K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCACCAGGTGATATTGCGTC	0.468000														61			47		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357408	38357408	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:38357408C>T	uc010abx.3	-	1	298	c.63G>A	c.(61-63)agG>agA	p.R21R	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.R21R|TRPC4_uc001uws.3_Silent_p.R21R|TRPC4_uc010tey.2_Silent_p.R21R|TRPC4_uc010abw.3_Silent_p.R21R|TRPC4_uc010aby.3_Silent_p.R21R	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	21					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCTTACTATCCTTAGAGGGA	0.418000														96			82		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541613	96541613	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96541613C>T	uc010qnz.2	+	4	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CYP2C19_uc009xus.1_Silent_p.F91F|CYP2C19_uc010qny.2_Silent_p.F204F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	226					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGATTATTTCCCGGGAACCC	0.289000														33			17		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196303142	196303143	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:196303142_196303143CC>TT	uc001gtd.1	-	16	1891_1892	c.1831_1832GG>AA	c.(1831-1833)ggc>AAc	p.G611N	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.G561N|KCNT2_uc001gtf.1_Missense_Mutation_p.G611N|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.G611N|KCNT2_uc001gth.1_Missense_Mutation_p.G132N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	611						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGGGTAGGGCCACTTGCTGAT	0.396000														60			18		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83065799	83065799	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:83065799G>A	uc010vns.2	+	3	747	c.483G>A	c.(481-483)ggG>ggA	p.G161G	CDH13_uc021tlw.1_Silent_p.G114G|CDH13_uc010chh.3_Silent_p.G114G|CDH13_uc002fgx.3_Silent_p.G114G|CDH13_uc010vnt.2_Intron|CDH13_uc010vnu.2_Silent_p.G114G	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	114	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTGTCGGGGGGAAAGACATCC	0.488000														13			10		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33513459	33513459	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:33513459G>A	uc002hja.3	+	19	2774	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	UNC45B_uc002hjb.3_Missense_Mutation_p.E891K|UNC45B_uc002hjc.3_Missense_Mutation_p.E891K|UNC45B_uc010cto.3_Missense_Mutation_p.E812K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	893					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGAGCTGCTGGAGATCCTGAC	0.552000														35			28		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457386	45457386	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45457386G>A	uc001rol.3	-	0		c.1809C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GGAACTAGATGAAGGAGTCTT	0.473000														37			25		0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197665573	197665573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:197665573G>A	uc003fyo.3	-	3	507	c.361C>T	c.(361-363)Ccg>Tcg	p.P121S	IQCG_uc003fyn.3_Missense_Mutation_p.P23S|IQCG_uc003fyp.3_Missense_Mutation_p.P121S|IQCG_uc003fyq.4_Missense_Mutation_p.P121S	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	121										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTTATTAACGGACTGGGTATT	0.388000														170			143		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106586059	106586059	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:106586059C>T	uc021ser.1	-	1812		c.34168G>A			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TCCTGTGCGCCCCCTGCAGCT	0.542000														49			4		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10346787	10346787	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10346787C>T	uc002gmn.3	-	39	5836	c.5725G>A	c.(5725-5727)Gag>Aag	p.E1909K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1909					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTTGGCCTCCTCCAGCTCG	0.468000														75			54		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070446	197070446	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197070446G>A	uc001gtu.3	-	17	8192	c.7935C>T	c.(7933-7935)ctC>ctT	p.L2645L	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Silent_p.L493L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2645	IQ 28.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCTAAGGTGGAGATAATGCT	0.368000														42			15		0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42231804	42231804	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:42231804C>T	uc003xpb.3	-	3	600	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	163	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TACAAATTTTCGTCCAAAAAT	0.478000														49			36		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69728383	69728383	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:69728383G>A	uc010kak.3	+	11	2375	c.2099G>A	c.(2098-2100)gGa>gAa	p.G700E	BAI3_uc003pev.4_Missense_Mutation_p.G700E	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	700					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G700R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTAATGACTGGAAATGTAGGT	0.313000														40			31		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510783	110510783	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110510783G>A	uc003yne.3	+	65	10796	c.10692G>A	c.(10690-10692)cgG>cgA	p.R3564R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3564					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGCTCATCGGAGTCCTAGAT	0.348000										HNSCC(38;0.096)				33			28		0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100203670	100203670	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:100203670G>A	uc001dsh.1	-	6	1333	c.731C>T	c.(730-732)tCc>tTc	p.S244F		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	244	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAATGCAAAGGATAAATAGCC	0.473000														74			108		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720897	7720897	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7720897C>T	uc002giu.1	+	64	10053	c.10039C>T	c.(10039-10041)Cct>Tct	p.P3347S	DNAH2_uc010cnm.1_Missense_Mutation_p.P285S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3347					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)				GCTTCAGGTTCCTTGCTCCCC	0.537000														91			85		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62854903	62854903	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:62854903G>A	uc002jey.2	-	11	5419	c.4803C>T	c.(4801-4803)ctC>ctT	p.L1601L	LRRC37A3_uc010wqg.1_Silent_p.L719L|LRRC37A3_uc002jex.1_Silent_p.L578L|LRRC37A3_uc010wqf.1_Silent_p.L639L|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1601						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTACCTCAATGAGGCAGAGAA	0.383000														43			21		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990735	70990735	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70990735G>A	uc021rvs.1	-	0	890	c.890C>T	c.(889-891)cCt>cTt	p.P297L	ADAM20_uc001xme.3_Missense_Mutation_p.P297L	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	247	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		AACCTCCAAAGGATGATAGAA	0.358000														9			31		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621237	69621237	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:69621237G>A	uc010lyz.3	+	8	1541	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	C8orf34_uc003xyb.3_Missense_Mutation_p.G306E	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	331					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGCTTCAAGGAGACAACCTG	0.363000														21			14		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554039	140554039	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140554039G>A	uc003lit.3	+	0	1797	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	541	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A540T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCCGCGCTGAGCAGCGAGG	0.701000														65			49		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814354	123814354	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:123814354C>T	uc010sab.2	-	0	192	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	64			R -> W (in dbSNP:rs6590021).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R64W(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		AGGAGAAATTCCGCAGGAAGA	0.488000														68			49		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657234	76657234	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76657234C>T	uc003pik.1	-	13	1971	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	614	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAGATTGGATCGTAGATATGG	0.373000														31			13		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31727214	31727214	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:31727214G>T	uc003nwu.2	+	16	1548	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*	MSH5_uc003nwx.2_Nonsense_Mutation_p.E491*|MSH5_uc003nwv.2_Nonsense_Mutation_p.E474*|MSH5_uc003nww.2_Nonsense_Mutation_p.E474*|MSH5_uc011dof.1_Nonsense_Mutation_p.E173*|MSH5_uc003nwy.1_Nonsense_Mutation_p.E148*|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	474					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TCTCTCAGAGGAGAAGCTGCA	0.547000								Direct reversal of damage;Mismatch excision repair (MMR)						60			12		6.31663e-08	6.34713e-08	1	1	0
CEP192	55125	broad.mit.edu	37	18	13049821	13049821	+	Missense_Mutation	SNP	G	A	A	rs150998186	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:13049821G>A	uc010xac.2	+	16	3028	c.2948G>A	c.(2947-2949)aGc>aAc	p.S983N	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.S508N|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Missense_Mutation_p.S724N	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	578										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGCAGGAGAGCTTCAGACCT	0.408000														62			80		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758290	41758290	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:41758290C>T	uc010ehj.3	+	14	1936	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	AXL_uc010ehk.3_Silent_p.F573F	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	582	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGGAGGATTTCCTGAGTGAAG	0.572000														35			25		0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86990745	86990745	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:86990745C>T	uc003uiu.3	+	5	609	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	CROT_uc003uit.3_Missense_Mutation_p.R94C	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	94					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTGGATGTTCGTATACCATC	0.403000														65			37		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670840	49670840	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:49670840C>T	uc002efs.3	-	4	2521	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V	ZNF423_uc010vgn.2_Silent_p.V624V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	741					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A740V(1)		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)				TGCTGTGCTTCACCGCCAGGT	0.577000														37			23		0	0	1	0	0
ADRB3	155	broad.mit.edu	37	8	37823755	37823755	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:37823755G>A	uc003xkr.2	-	0	430	c.233C>T	c.(232-234)tCg>tTg	p.S78L		NM_000025	NP_000016	P13945	ADRB3_HUMAN	Homo sapiens adrenergic, beta-3-, receptor (ADRB3), mRNA.	78					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	TGCGGCCAGCGAAGTCACGAA	0.692000														15			13		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11445947	11445947	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:11445947G>A	uc021zzo.1	-	21	4469	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	THSD7A_uc021zzn.1_Missense_Mutation_p.S1404F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1406	TSP type-1 14.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGCTGCAGGATTCCTCCAG	0.423000										HNSCC(18;0.044)				50			41		0	0	1	0	0
GRAMD3	65983	broad.mit.edu	37	5	125820208	125820208	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:125820208C>T	uc011cwt.2	+	9	1243	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	GRAMD3_uc003ktu.3_Missense_Mutation_p.P321L|GRAMD3_uc011cwv.2_Missense_Mutation_p.P329L|GRAMD3_uc011cww.2_Missense_Mutation_p.P217L|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.P212L|GRAMD3_uc011cwz.2_Missense_Mutation_p.P305L|GRAMD3_uc011cwu.1_Missense_Mutation_p.P305L	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	321										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AAGAGTCTCCCTGTACAGGGT	0.453000														69			49		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37296025	37296025	+	Missense_Mutation	SNP	C	T	T	rs114297422	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:37296025C>T	uc002hrg.2	-	1	349	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	46					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGGGCTCTCCGGTTCCAGCC	0.672000														49			4		0	0	1	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277594	156277594	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:156277594C>T	uc003lwf.1	+	0	46	c.21C>T	c.(19-21)tcC>tcT	p.S7S						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		CGACGGCCTCCCACCGGCCCA	0.657000														7			6		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374521	42374521	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:42374521A>G	uc001zox.3	-	8	834	c.739T>C	c.(739-741)Ttg>Ctg	p.L247L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	247					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCAATGGTCAAGGGCCTCAGG	0.498000														33			28		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441590	110441590	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110441590G>A	uc003yne.3	+	25	3126	c.3022G>A	c.(3022-3024)Gga>Aga	p.G1008R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1008					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAACATTATTGGAGAAAAGGC	0.333000										HNSCC(38;0.096)				10			5		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137490	32137490	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:32137490G>T	uc001rks.3	+	3	4015	c.3601G>T	c.(3601-3603)Gag>Tag	p.E1201*		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1201								p.E1201D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TTCAGAGGAAGAGAAACAAAA	0.428000														58			33		2.85442e-18	2.894e-18	1	1	0
RBM47	54502	broad.mit.edu	37	4	40440224	40440224	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:40440224G>A	uc003gvc.2	-	3	1397	c.687C>T	c.(685-687)gaC>gaT	p.D229D	RBM47_uc003gvd.2_Silent_p.D229D|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.D191D|RBM47_uc003gvg.1_Silent_p.D229D	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	229	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTTCGGCCCAGTCCACGGCGA	0.637000														69			42		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16217159	16217159	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:16217159C>T	uc003car.4	+	0	976	c.501C>T	c.(499-501)atC>atT	p.I167I	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	167						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GTGCCCGCATCCCCCTCCAGA	0.627000														25			13		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155469249	155469249	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:155469249C>T	uc003qqb.3	+	8	3082	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	TIAM2_uc003qqe.3_Silent_p.T603T|TIAM2_uc010kjj.3_Silent_p.T136T|TIAM2_uc003qqf.3_5'UTR|TIAM2_uc011efl.1_5'Flank|TIAM2_uc003qqg.3_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	603	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTAGGCCACCAGCCAGACAG	0.498000														66			45		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159300	154159300	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:154159300G>A	uc004fmt.3	-	13	2936	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	922	B.				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)	GGGTCCTAAGGAACTTGTATT	0.383000														8			48		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16872934	16872934	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:16872934G>A	uc002neu.4	+	7	2540	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L	NWD1_uc002net.4_Silent_p.L571L|NWD1_uc002nev.4_Silent_p.L500L|NWD1_uc021uqg.1_Silent_p.L571L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	706							ATP binding	p.C706Y(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAAACCACTGAACTTGGACC	0.582000														24			13		0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496709	124496709	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124496709C>T	uc001ugb.3	+	4	1047	c.18C>T	c.(16-18)ccC>ccT	p.P6P	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Silent_p.P6P|ZNF664_uc021rfz.1_Silent_p.P6P	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ACAAGTGCCCCATGTGTAGGG	0.368000														54			14		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626644	140626644	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140626644C>T	uc003lje.3	+	0	1498	c.1498C>T	c.(1498-1500)Ctc>Ttc	p.L500F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	500	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCTGCCCCTCACCTCCCT	0.672000														106			91		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804879	22804879	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:22804879C>T	uc002kvk.2	-	3	3250	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.E1001E|ZNF521_uc002kvl.2_Silent_p.E781E	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1001					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTAAAAACTCCTCTTCACTCT	0.483000			T	PAX5	ALL									44			62		0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29456683	29456683	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:29456683A>T	uc003aej.1	-	1	279	c.152T>A	c.(151-153)aTt>aAt	p.I51N		NM_015370	NP_056185	O95567	CV031_HUMAN	Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.	51										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TGGGGCATTAATGTTCTGCTT	0.493000														19			73		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328379	61328379	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61328379C>T	uc002lji.3	-	1	216	c.72G>A	c.(70-72)gaG>gaA	p.E24E	SERPINB3_uc002ljg.3_Silent_p.E24E|SERPINB3_uc010dqa.3_Silent_p.E24E|SERPINB3_uc010dqb.3_Silent_p.E24E|SERPINB3_uc010dqc.2_Silent_p.E24E	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	24					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGATGTTGTTCTCTTTTGATT	0.433000														101			155		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884867	228884867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228884867C>T	uc002vpq.2	-	6	750	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E235K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E235K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	235						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTATATTTTCATAATCTAGT	0.343000														91			57		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023673	76023673	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76023673T>C	uc010kbe.3	-	5	2414	c.1884A>G	c.(1882-1884)gaA>gaG	p.E628E	FILIP1_uc003phy.1_Silent_p.E625E|FILIP1_uc003phz.3_Silent_p.E526E|FILIP1_uc003pia.3_Silent_p.E625E|FILIP1_uc003pib.1_Silent_p.E377E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	625										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTATTATCTTCCGGGCAGG	0.413000														150			118		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442781	77442781	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77442781C>T	uc004ajl.1	-	6	992	c.754G>A	c.(754-756)Gat>Aat	p.D252N	TRPM6_uc004ajk.1_Missense_Mutation_p.D247N|TRPM6_uc022bib.1_Missense_Mutation_p.D247N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D252N|TRPM6_uc010mpd.1_Missense_Mutation_p.D252N|TRPM6_uc010mpe.1_Missense_Mutation_p.D252N|TRPM6_uc004ajn.1_Missense_Mutation_p.D252N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	252					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTCCCATCATCAGACAGGATG	0.507000														52			46		0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40778102	40778102	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:40778102C>T	uc002yxu.3	-	9	2032	c.1719G>A	c.(1717-1719)ggG>ggA	p.G573G	LCA5L_uc002yxv.3_Silent_p.G573G	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	573										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGGGCTCATACCCACTGTCAG	0.463000														76			53		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25263070	25263070	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:25263070G>A	uc001rgk.3	-	14	1966	c.1884C>T	c.(1882-1884)gtC>gtT	p.V628V	CASC1_uc001rgj.3_Silent_p.V582V|CASC1_uc001rgm.4_Silent_p.V686V|CASC1_uc001rgl.3_Silent_p.V622V|CASC1_uc010sje.2_Silent_p.V563V|CASC1_uc010sjf.2_Silent_p.V510V	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	622										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CCTTAAATACGACTTTTGTAG	0.378000														47			22		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47937734	47937734	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:47937734C>T	uc003tny.2	-	13	2156	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	708	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGGAAATATCACAGAAGACT	0.483000														31			23		0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132632324	132632324	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:132632324C>T	uc001ujz.1	+	4	641	c.600C>T	c.(598-600)ccC>ccT	p.P200P		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	200					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCCAGCACCCCGAGGTGGGTG	0.687000														56			4		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086959	100086959	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100086959G>A	uc003uvd.1	+	3	1774	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	NYAP1_uc003uve.1_Missense_Mutation_p.D321N	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	539																	CAGCCTTCCGGACCCAACTGT	0.706000														11			9		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967791	81967791	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:81967791C>T	uc003hmg.4	+	1	1536	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	406					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						ATGCCAGTTCCCCATGCCAAA	0.438000														106			94		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183522154	183522154	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:183522154C>T	uc003ivd.1	+	2	664	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	ODZ3_uc021xux.1_Missense_Mutation_p.H104Y	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	197	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGCACAGCATCATCCATCCAT	0.522000														100			64		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54527271	54527271	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54527271C>T	uc021smr.1	+	3	3115	c.3115C>T	c.(3115-3117)Cgc>Tgc	p.R1039C	UNC13C_uc021sms.1_Missense_Mutation_p.R1039C	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1039					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R1039G(3)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCCGGATCTTCGCAGAAAAAA	0.358000														23			12		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248725	75248725	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:75248725C>T	uc001xqj.4	+	3	2103	c.1979C>T	c.(1978-1980)tCg>tTg	p.S660L	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.S465L(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCACAGAGCTCGCAAGTTCCA	0.547000														8			24		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028362	143028362	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143028362G>A	uc003wcr.1	+	8	1104	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	CLCN1_uc011ktc.1_Missense_Mutation_p.M1I	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	339					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R338Q(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTCCGAATGGATTTCCCCT	0.517000														46			25		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032007	197032007	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197032007G>A	uc001gtt.1	-	1	289	c.245C>T	c.(244-246)tCt>tTt	p.S82F		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	82	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGGCTCTGGAGACCAGCCTTC	0.388000														102			175		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102816508	102816508	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:102816508A>G	uc003hvy.4	+	5	1224	c.950A>G	c.(949-951)cAt>cGt	p.H317R	BANK1_uc003hvx.4_Missense_Mutation_p.H302R|BANK1_uc010ill.3_Missense_Mutation_p.H184R|BANK1_uc003hvz.4_Missense_Mutation_p.H287R	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	317	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATATTCAAACATGAGATACCA	0.299000														40			19		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587228	42587228	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:42587228G>A	uc003xpi.1	+	4	906	c.778G>A	c.(778-780)Gat>Aat	p.D260N		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	260					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.S259S(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTACCTTCGGATGAAGGAGA	0.428000														56			38		0	0	1	0	0
DEFB124	245937	broad.mit.edu	37	20	30053355	30053355	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:30053355G>A	uc002wvz.1	-	1	170	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_001037500	NP_001032589	Q8NES8	DB124_HUMAN	Homo sapiens defensin, beta 124 (DEFB124), mRNA.	57					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAATGCATAGGAGAGACAGCA	0.517000														47			34		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952122	22952122	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22952122G>A	uc021urt.1	-	1	163	c.8C>T	c.(7-9)tCg>tTg	p.S3L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.S24W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATGTCAACGATCCCTGAAA	0.388000														47			27		0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118860982	118860982	+	Splice_Site	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:118860982T>G	uc003ksj.3	+	18	1706	c.1573_splice	c.e18+2	p.G525_splice	HSD17B4_uc011cwh.2_Splice_Site_p.G507_splice|HSD17B4_uc011cwg.2_Splice_Site_p.G501_splice|HSD17B4_uc011cwi.2_Splice_Site_p.G550_splice|HSD17B4_uc003ksk.4_Splice_Site_p.G378_splice|HSD17B4_uc011cwj.2_Splice_Site_p.G378_splice|HSD17B4_uc010jcn.2_Splice_Site_p.G263_splice	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	525	Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GTCTAGCAGGTGAGTTGTCTT	0.353000														32			19		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756607	94756607	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:94756607G>A	uc001yct.3	-	1	790	c.324C>T	c.(322-324)gcC>gcT	p.A108A	SERPINA10_uc001ycu.4_Silent_p.A108A	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	108					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGCCTGTCATGGCCAAGGACA	0.577000														7			30		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3611539	3611539	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:3611539G>A	uc022aqr.1	-	5	1234	c.844C>T	c.(844-846)Cca>Tca	p.P282S		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	282	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGATAACTGGAGAGGGGAGG	0.458000														20			8		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91371890	91371890	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:91371890C>T	uc001tbk.3	-	2	408	c.315G>A	c.(313-315)ggG>ggA	p.G105G		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	105					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GCCCCAGAACCCCTGTGAATT	0.517000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			36		0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110943347	110943347	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:110943347G>A	uc003puh.1	-	10	1127	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	CDK19_uc003pui.1_Missense_Mutation_p.P292S|CDK19_uc011eax.1_Missense_Mutation_p.P228S	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	352							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGGGGTATGGAATCTGGCAG	0.338000														71			56		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17156138	17156138	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:17156138G>A	uc001ioo.3	-	7	823	c.771C>T	c.(769-771)agC>agT	p.S257S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	257					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGGCAGGGCTGTTGGGTG	0.537000														19			6		0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53409087	53409087	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:53409087G>A	uc003jpg.1	-	3	501	c.407C>T	c.(406-408)cCc>cTc	p.P136L	ARL15_uc010ivs.1_Non-coding_Transcript	NM_019087	NP_061960	Q9NXU5	ARL15_HUMAN	Homo sapiens ADP-ribosylation factor-like 15 (ARL15), mRNA.	136							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TATTAAAAAGGGTAAAGTGCA	0.418000														31			22		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87217627	87217627	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:87217627C>T	uc002blz.1	+	21	3123	c.3043C>T	c.(3043-3045)Ctg>Ttg	p.L1015L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	1015					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGCAACTCTGCTGAGTGCTGA	0.552000														20			17		0	0	1	0	0
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49928133G>A	uc011dwp.2	-	1	82	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353000														60			20		0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64935557	64935557	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:64935557G>A	uc021ruk.1	+	0	445	c.445G>A	c.(445-447)Gac>Aac	p.D149N	ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Missense_Mutation_p.D149N	NM_004857	NP_004848	P24588	AKAP5_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.	149	Essential to the intracellular anchoring function (By similarity).				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AGAAGACTCAGACTGCAGCAT	0.388000														22			66		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20619271	20619271	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:20619271G>A	uc003gpr.1	+	35	4550	c.4346G>A	c.(4345-4347)cGa>cAa	p.R1449Q	SLIT2_uc003gps.1_Missense_Mutation_p.R1441Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1449					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGCTGTGATCGAGGTAAGCCA	0.512000														11			7		0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55912144	55912144	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:55912144G>A	uc002rzf.2	-	3	390	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	113					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAGTTTGTGGGAATTCTACCT	0.338000														25			24		0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30698779	30698779	+	Silent	SNP	C	T	T	rs111269471		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30698779C>T	uc003nrm.3	-	8	986	c.822G>A	c.(820-822)cgG>cgA	p.R274R	FLOT1_uc011dmr.2_Silent_p.R226R	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	274						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTTCTCCCGCCGGGCGATCT	0.662000														92			39		0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356723	104356723	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104356723C>T	uc004bbr.3	-	0	561	c.490G>A	c.(490-492)Gag>Aag	p.E164K	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	161							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TTGTGGATCTCCAGGTCTCTG	0.478000														57			25		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462137	50462137	+	Missense_Mutation	SNP	C	T	T	rs142292396	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50462137C>T	uc010ybh.2	-	6	1217	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G376S	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.R376S(1)|p.R376R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGGATGTGCCGTTCCCGAGG	0.662000														59			32		0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863996	74863996	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:74863996C>T	uc003hhk.3	-	1	287	c.169G>A	c.(169-171)Gga>Aga	p.G57R		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	57					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGATGAACTCCTTGCGTGGTC	0.527000														40			41		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949127	89949127	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:89949127C>T	uc003kju.3	+	19	3832	c.3736C>T	c.(3736-3738)Cca>Tca	p.P1246S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1246					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCTTGGATCCAGAGTGTTT	0.463000														36			32		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54025323	54025323	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54025323C>T	uc011dxa.2	+	6	2398	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	MLIP_uc003pcf.2_Missense_Mutation_p.P778S|MLIP_uc003pcg.4_Missense_Mutation_p.P254S|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	254						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCTCTATTTTCCTGCACAGCT	0.418000														61			27		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504328	66504328	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:66504328C>T	uc002lkk.2	+	3	551	c.328C>T	c.(328-330)Cga>Tga	p.R110*	CCDC102B_uc002lki.2_Nonsense_Mutation_p.R110*|CCDC102B_uc002lkj.1_Nonsense_Mutation_p.R110*	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	110								p.R110*(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAGTAAAGTTCGAGCTGAAAG	0.463000														120			64		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206265756	206265756	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:206265756G>A	uc002var.2	+	18	2857	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	PARD3B_uc002vao.2_Missense_Mutation_p.D884N|PARD3B_uc002vap.2_Missense_Mutation_p.D822N|PARD3B_uc002vaq.2_Missense_Mutation_p.D815N	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	884	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAAGAAAGAGGATAAGGGTGG	0.423000														6			5		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140242630	140242630	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:140242630G>A	uc004cmp.2	-	16	2087	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	631					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CACACCACACGGAAGGCCCTG	0.667000														7			7		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109225533	109225533	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:109225533C>T	uc003pss.4	+	7	1122	c.948C>T	c.(946-948)ctC>ctT	p.L316L	ARMC2_uc011eao.2_Silent_p.L151L	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	316							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GAAGTATTCTCCTGAAGACCC	0.378000														69			44		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090595	91090595	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:91090595G>A	uc004efk.2	+	0	937	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	PCDH11X_uc004efl.2_Missense_Mutation_p.R31Q|PCDH11X_uc010nmv.2_Missense_Mutation_p.R31Q|PCDH11X_uc004efm.2_Missense_Mutation_p.R31Q|PCDH11X_uc004efn.2_Missense_Mutation_p.R31Q|PCDH11X_uc004efo.2_Missense_Mutation_p.R31Q|PCDH11X_uc004efh.2_Missense_Mutation_p.R31Q|PCDH11X_uc004efj.1_Missense_Mutation_p.R31Q	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	31	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R31*(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACACCATCCGAGAAGAAATG	0.493000														6			57		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77454973	77454973	+	Missense_Mutation	SNP	C	T	T	rs150874152	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77454973C>T	uc004ajl.1	-	4	749	c.511G>A	c.(511-513)Gga>Aga	p.G171R	TRPM6_uc004ajk.1_Missense_Mutation_p.G166R|TRPM6_uc022bib.1_Missense_Mutation_p.G166R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G171R|TRPM6_uc010mpd.1_Missense_Mutation_p.G171R|TRPM6_uc010mpe.1_Missense_Mutation_p.G171R|TRPM6_uc004ajn.1_Missense_Mutation_p.G171R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	171					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCCACGCTCCTGTTGTCTCT	0.488000														55			45		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136475314	136475314	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:136475314G>A	uc003qgp.3	+	7	882	c.579_splice	c.e7+1	p.K193_splice	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Splice_Site_p.K245_splice	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	193	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AGAGCCAAAGGTAAGACAAGA	0.502000														19			8		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814345	103814345	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:103814345G>A	uc001phq.3	-	4	979	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	PDGFD_uc001php.3_Missense_Mutation_p.P197S	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	203					positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity	p.D202Y(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ATCAGAGTGGGATCCGTTACT	0.418000														22			9		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44084814	44084814	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:44084814C>T	uc001cjr.3	+	26	4927	c.4587C>T	c.(4585-4587)ttC>ttT	p.F1529F	PTPRF_uc001cjs.3_Silent_p.F1520F|PTPRF_uc001cju.3_Silent_p.F918F|PTPRF_uc009vwt.3_Silent_p.F1089F|PTPRF_uc001cjv.3_Silent_p.F1000F|PTPRF_uc001cjw.3_Silent_p.F755F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1529	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCTGGCCTTCCTACGACGGG	0.632000														26			43		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39845455	39845455	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:39845455C>T	uc010lwy.1	+	6	796	c.554C>T	c.(553-555)gCt>gTt	p.A185V	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	172					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTGGTGACTGCTTTGGTAGAG	0.463000														8			5		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74411931	74411931	+	Silent	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:74411931C>G	uc010vmt.1	+	0	61	c.60C>G	c.(58-60)ccC>ccG	p.P20P				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	0										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						GCCATCAGCCCACCCCTGTGA	0.587000														13			4		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917905	94917905	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:94917905G>A	uc003unp.3	+	14	3241	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E1263K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E1185K|PPP1R9A_uc003unq.3_Intron|PPP1R9A_uc011kig.2_Missense_Mutation_p.E979K|PPP1R9A_uc003unr.3_Missense_Mutation_p.E276K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	987	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGCCGTTCAGGAATGGAGTGT	0.448000										HNSCC(28;0.073)				47			47		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549870	50549870	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50549870C>T	uc002prn.3	+	4	2407	c.2170C>T	c.(2170-2172)Cac>Tac	p.H724Y	ZNF473_uc002prm.3_Missense_Mutation_p.H724Y|ZNF473_uc010ybo.2_Missense_Mutation_p.H712Y	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	724					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGAGAATTCACTCAGGTGA	0.512000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			40		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	85974	85974	+	Silent	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:85974T>A	uc003fzv.1	+	3	735	c.579T>A	c.(577-579)atT>atA	p.I193I	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATACAGGAATTCATGCTGGAG	0.383000														18			4		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964303	48964303	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:48964303G>A	uc010kyv.1	+	0	147	c.35G>A	c.(34-36)cGg>cAg	p.R12Q						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CCGCGCCGCCGGGACCCCCAG	0.612000														35			24		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610197	38610197	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:38610197C>T	uc002ohk.3	+	8	3052	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	848					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACCTCATCTCCCTGACCTCC	0.602000														39			29		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2965965	2965965	+	Nonstop_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:2965965A>G	uc021tns.1	-	0	937	c.937T>C	c.(937-939)Tga>Cga	p.*313R		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						AATTACCTTCATTTAGGCCTC	0.468000														61			10		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245133	46245133	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46245133C>T	uc003cph.1	-	1	743	c.672G>A	c.(670-672)aaG>aaA	p.K224K	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.K224K	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	224					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TTAGCAGAATCTTTATAATCC	0.418000														48			43		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799827	212799827	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:212799827C>T	uc010pth.1	-	0		c.287G>A			FAM71A_uc001hjk.3_Silent_p.N536N			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAGAGCCAACCTTACTACAA	0.557000														53			71		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937001	15937001	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:15937001G>A	uc003jfn.1	+	3	1663	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	394					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.G393V(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCACGGTGTGGAGTACCTCG	0.617000														18			14		0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074829	54074829	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:54074829G>A	uc001jjr.3	+	1	544	c.390G>A	c.(388-390)ggG>ggA	p.G130G	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	130	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCTGCCCCGGGAATTACTGCA	0.602000														18			14		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412701	220412701	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:220412701T>C	uc002vme.3	+	3	1225	c.640T>C	c.(640-642)Tgc>Cgc	p.C214R	TMEM198_uc002vmf.3_Missense_Mutation_p.C214R	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	214	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCCCCACTCTGCTGGCGAAG	0.677000														4			3		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139265344	139265344	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:139265344C>T	uc022bpp.1	-	3	742	c.576G>A	c.(574-576)caG>caA	p.Q192Q	CARD9_uc004chg.3_Silent_p.Q192Q|CARD9_uc022bpo.1_Silent_p.Q192Q|CARD9_uc011mdx.1_Silent_p.Q88Q|CARD9_uc010nbj.2_Silent_p.Q192Q	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	192					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TCTCCTCACTCTGGTGCGCCA	0.701000														18			11		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170723000	170723000	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:170723000C>T	uc003mba.3	+	26	3294	c.3152C>T	c.(3151-3153)tCc>tTc	p.S1051F	RANBP17_uc003mbb.3_Missense_Mutation_p.S376F|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	1051					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGAACCTGTCCGTCAAGAAC	0.507000			T	TRD@	ALL									27			31		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162870933	162870933	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:162870933G>A	uc002ubz.3	-	18	2171	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	DPP4_uc010fpb.3_Missense_Mutation_p.S213F	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	537					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATATTTCTTGGATTTATCAAA	0.303000														43			26		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107865	55107866	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:55107865_55107866CC>TT	uc002qgh.1	+	6	1352_1353	c.1170_1171CC>TT	c.(1168-1173)gcccac>gcTTac	p.H391Y	LILRA1_uc010yfg.1_Missense_Mutation_p.H389Y|LILRA1_uc010yfh.2_Missense_Mutation_p.H391Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	391	Ig-like C2-type 4.				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)		TGACCTCAGCCCACTCGGGGAC	0.589000														87			77		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34662917	34662917	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:34662917G>A	uc001bxt.3	+	1	1250	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	C1orf94_uc001bxs.4_5'UTR	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	0							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GATCCTGGTCGAAGAGAGTTC	0.572000														6			8		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754532	49754532	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754532G>A	uc003ozu.3	-	0	522	c.369C>T	c.(367-369)cgC>cgT	p.R123R		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	123					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.R123C(1)|p.R123H(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCACATGAAAGCGCAGGTTCT	0.512000														108			49		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999986	55999986	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55999986T>A	uc010rjc.2	-	0	676	c.676A>T	c.(676-678)Att>Ttt	p.I226F		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAATAAGAAATAGCAAGGAGA	0.418000														142			89		0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108041967	108041967	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:108041967G>A	uc010kdf.3	-	5	1164	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	SCML4_uc003prz.4_Silent_p.L247L|SCML4_uc011eam.1_Silent_p.L305L|SCML4_uc003pry.4_Silent_p.L63L|SCML4_uc003psa.3_Silent_p.L276L	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA.	305	SAM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGAGGCCTCAGCCCAGGTGCC	0.587000														68			54		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618869	129618869	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:129618869C>T	uc021zfb.1	+	20	3001	c.2896C>T	c.(2896-2898)Ccc>Tcc	p.P966S	LAMA2_uc003qbn.3_Missense_Mutation_p.P966S|LAMA2_uc003qbo.3_Missense_Mutation_p.P966S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	966	Laminin EGF-like 9.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGGCTGTGTTCCCTGCAACTG	0.463000														24			20		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14549187	14549187	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:14549187C>T	uc021wtn.1	-	19	2388	c.2388G>A	c.(2386-2388)ggG>ggA	p.G796G	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	700					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAATGCGGTCCCCCACGTGGA	0.612000														26			24		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949918	70949918	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:70949918C>T	uc001swb.4	-	16	4101	c.4071G>A	c.(4069-4071)aaG>aaA	p.K1357K	PTPRB_uc010sto.2_Silent_p.K1267K|PTPRB_uc010stp.2_Silent_p.K1267K|PTPRB_uc001swc.4_Silent_p.K1575K|PTPRB_uc001swa.4_Silent_p.K1487K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1357	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTTTTGTATCTTGTCAGGCT	0.453000														19			13		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56207477	56207477	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:56207477C>T	uc021wzo.1	-	2	1286	c.1146G>A	c.(1144-1146)atG>atA	p.M382I	ERC2_uc003dhr.1_Missense_Mutation_p.M382I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	382						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.E381K(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCCTACCTTCATTTCGATGA	0.453000														22			16		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36103816	36103816	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36103816C>T	uc003ols.3	+	4	536	c.438C>T	c.(436-438)gtC>gtT	p.V146V	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	146	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding	p.V146I(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTGCTGGGGTCGTGCACAGGG	0.582000														74			30		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91682179	91682179	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:91682179C>T	uc003ulg.3	+	21	5733	c.5508C>T	c.(5506-5508)gaC>gaT	p.D1836D	AKAP9_uc003ulf.3_Silent_p.D1836D|AKAP9_uc003uli.3_Silent_p.D1459D	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1848					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAAATAGACCCTGAAAATG	0.418000			T	BRAF	papillary thyroid									40			28		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72739294	72739294	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:72739294G>A	uc010wrc.2	+	3	478	c.288G>A	c.(286-288)cgG>cgA	p.R96R	RAB37_uc002jlc.2_Silent_p.R84R|RAB37_uc002jld.2_Silent_p.R84R|RAB37_uc010dfu.3_Silent_p.R84R|RAB37_uc010wrb.2_Silent_p.R59R|RAB37_uc002jlk.3_Silent_p.R91R|RAB37_uc010wre.2_Silent_p.R54R	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	91					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGCAGGAACGGTTCCGAAGCG	0.607000														74			49		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395162	37395162	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:37395162C>T	uc002rpu.3	-	6	735	c.714G>A	c.(712-714)caG>caA	p.Q238Q	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	276						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CATCCATTTCCTGGTTCTGAA	0.388000														44			35		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557692	52557692	+	Missense_Mutation	SNP	C	T	T	rs145640449		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52557692C>T	uc003dej.3	+	65	7389	c.7315C>T	c.(7315-7317)Cgt>Tgt	p.R2439C	STAB1_uc003del.3_Missense_Mutation_p.R351C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2439	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGGTTAGCCGTATCATTGT	0.632000														21			19		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175559	143175559	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143175559C>T	uc003wdc.1	+	0	594	c.594C>T	c.(592-594)gtC>gtT	p.V198V	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	198					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTTTTCTGGTCTCAATTATGC	0.463000														33			29		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77663034	77663034	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77663034C>T	uc011cbx.2	+	4	4661	c.3708C>T	c.(3706-3708)gtC>gtT	p.V1236V	SHROOM3_uc011cbz.1_Silent_p.V1060V|SHROOM3_uc003hkf.1_Silent_p.V1111V|SHROOM3_uc003hkg.3_Silent_p.V1014V	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1236					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGGGCCCTGTCCATGTGAGGT	0.652000														9			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401380	34401380	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:34401380G>A	uc001bxm.1	-	3	870	c.693C>T	c.(691-693)ttC>ttT	p.F231F	CSMD2_uc001bxn.1_Silent_p.F191F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	191	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGGCAGGGGGAAGTCCCACG	0.627000														40			52		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487395	110487395	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110487395G>A	uc003yne.3	+	50	8758	c.8654G>A	c.(8653-8655)gGa>gAa	p.G2885E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2885					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATATGTCTGGATGGATGGCT	0.343000										HNSCC(38;0.096)				29			16		0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652113	36652113	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36652113C>T	uc021yzb.1	+	2	337	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	CDKN1A_uc021yzc.1_Missense_Mutation_p.P79S|CDKN1A_uc011dtq.2_Missense_Mutation_p.P113S|CDKN1A_uc003omm.4_Missense_Mutation_p.P79S|CDKN1A_uc003omn.3_Missense_Mutation_p.P79S	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	79					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCTCTACCTTCCCACGGGGCC	0.662000														42			21		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794302	6794302	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:6794302C>T	uc003wqu.1	-	1	171	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	40					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAGATATGTCCTGGTCTTCTG	0.547000														42			31		0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37340059	37340059	+	Silent	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:37340059G>T	uc002hrm.2	-	10	1165	c.957C>A	c.(955-957)gtC>gtA	p.V319V	CACNB1_uc002hrl.1_Silent_p.V91V|CACNB1_uc002hrn.3_Silent_p.V319V|CACNB1_uc002hro.3_Silent_p.V364V	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	319					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CATCCAGAGCGACCAACTGAA	0.577000														14			17		1.15088e-07	1.15515e-07	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:96761854G>A	uc003htr.4	+	0	616	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.N184N(3)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483000														50			33		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359593	72359593	+	Silent	SNP	G	A	A	rs146777162		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:72359593G>A	uc002sih.1	-	5	1302	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	CYP26B1_uc010yra.1_Silent_p.F417F|CYP26B1_uc010yrb.1_Silent_p.F359F	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	434					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.P433L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CACCGCCACCGAACGGGAGGT	0.642000														35			21		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556612	52556612	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:52556612G>A	uc002lfr.3	+	5	868	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	209					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.E209*(2)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTTGGATGGGGAAAAGCCACC	0.393000														36			44		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75927723	75927723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:75927723G>A	uc003kek.3	+	14	1874	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	IQGAP2_uc010izv.2_Missense_Mutation_p.G104E|IQGAP2_uc011csv.2_Missense_Mutation_p.G104E|IQGAP2_uc003kel.3_Missense_Mutation_p.G104E	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	551					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGTTTGGAAGGAAAAAAATCA	0.373000														30			19		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740024	15740024	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15740024C>T	uc002nbi.3	+	13	1480	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	CYP4F8_uc010xoj.2_Silent_p.F285F	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	473					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGCAGAAGTTCGCGATGGCAG	0.657000														10			6		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750437	164750437	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:164750437C>T	uc003fei.3	-	23	2672	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	870	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	TAAGGTAGTTCCTTCCTGATA	0.348000										HNSCC(35;0.089)				24			23		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637774	158637774	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158637774C>T	uc001fst.1	-	14	2111	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	638					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	p.E638K(2)		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)					TGTATGTTTTCCAGCTGGGTC	0.443000														86			112		0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230401076	230401076	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:230401076T>C	uc010pwa.1	+	13	1475	c.1403T>C	c.(1402-1404)gTt>gCt	p.V468A	GALNT2_uc010pvy.1_Missense_Mutation_p.V430A|GALNT2_uc010pvz.1_Non-coding_Transcript|GALNT2_uc001htu.2_Missense_Mutation_p.V80A	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	468	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GATGGTGTGGTTGGAGTTTAT	0.532000														261			75		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136494986	136494986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:136494986C>T	uc003qgp.3	+	8	1066	c.763C>T	c.(763-765)Cga>Tga	p.R255*	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Nonsense_Mutation_p.R307*	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	255	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TGGCATGCTTCGAGAATCAAG	0.408000														35			26		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777051	25777051	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:25777051C>T	uc003nfe.3	+	9	1251	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	SLC17A4_uc011djx.2_Missense_Mutation_p.P148S|SLC17A4_uc003nff.1_Missense_Mutation_p.P167S|SLC17A4_uc003nfg.3_Missense_Mutation_p.P315S|SLC17A4_uc010jqa.3_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	378					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTTCTCTTCCCATCCGTGAT	0.552000														175			58		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48746762	48746762	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:48746762T>G	uc002isl.3	+	16	2194	c.2114T>G	c.(2113-2115)cTt>cGt	p.L705R		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	705	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AACTGCACTCTTCAGGAAAAC	0.602000														44			27		0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40095258	40095258	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:40095258C>T	uc002omb.3	+	1	72	c.32C>T	c.(31-33)cCt>cTt	p.P11L		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	11	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TACAAACTGCCTGTGTCTTTG	0.493000														61			34		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141558	133141558	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:133141558C>T	uc003ytj.3	-	14	2795	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	KCNQ3_uc003yti.3_Missense_Mutation_p.G737E|KCNQ3_uc010mdt.3_Missense_Mutation_p.G845E	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	857					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATCCCATCCCCTGTGGACGA	0.547000														41			22		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757815	62757815	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:62757815G>A	uc003peg.2	-	2	551	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	102	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.L102L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTTTGCCCAGGATAGACATT	0.383000														73			59		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33146491	33146491	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:33146491C>T	uc003ocx.1	-	17	1912	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.G476R|COL11A2_uc003ocz.1_Missense_Mutation_p.G455R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	562	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTGGGAGTCCATCAAAACCT	0.567000														156			55		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97073455	97073455	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:97073455G>A	uc021rcc.1	+	6	994	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	306										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAGACACTGGAAAAATCCAA	0.438000														86			60		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76805850	76805850	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76805850C>T	uc003hix.3	-	7	1000	c.643G>A	c.(643-645)Gat>Aat	p.D215N	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.D215N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	215	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTACTGAATCCTTGCCTCGA	0.453000														131			106		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682711	140682711	+	Missense_Mutation	SNP	G	A	A	rs146929069	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140682711G>A	uc003ljf.3	-	0	902	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	241					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATACATGGAAAGAACTTG	0.413000														39			28		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103310937	103310937	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:103310937C>T	uc002tca.3	+	5	1632	c.1490C>T	c.(1489-1491)gCt>gTt	p.A497V		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	497						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAACAACAAGCTGTCAGTGAA	0.348000														26			15		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131646724	131646724	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:131646724C>T	uc021qav.1	-	10	1092	c.991G>A	c.(991-993)Gat>Aat	p.D331N	EBF3_uc001lki.2_Missense_Mutation_p.D345N	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	354	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAGCCGTAATCTATGGTTGGT	0.428000														67			48		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:48413860G>A	uc001jfa.1	-	1	1168	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	336					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000														72			32		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545581	10545581	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10545581G>A	uc002gmq.2	-	16	2023	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	645	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGACAGTTTGGAAGGAAGAAC	0.383000														22			14		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20423012	20423012	+	Splice_Site	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:20423012T>G	uc002dhe.3	+	2	351	c.204_splice	c.e2+2	p.E68_splice	ACSM5_uc002dhd.1_Splice_Site_p.E68_splice	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	68					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGGAAGAGGTGAAGCCTGTT	0.552000														27			19		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322216	36322216	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:36322216C>T	uc002oby.3	-	25	3525	c.3369G>A	c.(3367-3369)cgG>cgA	p.R1123R	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1123					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R1123L(1)|p.R1123Q(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTGAGTGTCCCGCTCTCCTG	0.607000														52			53		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109795	98109795	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:98109795G>A	uc011bgw.2	+	0	286	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TACCCTGTATGAATGTATGGC	0.428000														210			131		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257587	77257587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77257587C>T	uc004aji.3	+	3	575	c.526C>T	c.(526-528)Cct>Tct	p.P176S	RORB_uc004ajh.3_Missense_Mutation_p.P165S	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	176	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCAGCCGTCCCCTGATCAGTC	0.488000														48			24		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170470973	170470973	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:170470973G>A	uc002uez.3	+	8	598	c.378_splice	c.e8-1	p.I126_splice	PPIG_uc010fpx.3_Splice_Site_p.I111_splice|PPIG_uc010fpy.3_Splice_Site_p.I122_splice|PPIG_uc002ufa.3_Splice_Site_p.I126_splice|PPIG_uc002ufb.3_Splice_Site_p.I126_splice|PPIG_uc002ufc.1_Splice_Site_p.I126_splice|PPIG_uc002ufd.3_Splice_Site_p.I126_splice	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	126	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTTCCAAAAGAACAACGAAA	0.244000														52			40		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16272806	16272806	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16272806C>T	uc002den.4	-	17	2301	c.2264G>A	c.(2263-2265)gGa>gAa	p.G755E	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	755	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTCTGGCCTCCGGAGAGATT	0.627000														25			24		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397891	111397891	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:111397891G>A	uc003iab.4	+	0	663	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	107					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.V106M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGCACGTGAAGCCCCTGTTGG	0.612000														96			63		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680361	18680361	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:18680361C>T	uc003zne.4	+	10	1340	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	ADAMTSL1_uc003znb.3_Silent_p.I379I|ADAMTSL1_uc003znc.4_Silent_p.I396I	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	396	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGGGGCATCCAGAGCCGGG	0.602000														11			34		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107678038	107678038	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:107678038C>T	uc010ljo.1	-	29	4558	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	LAMB4_uc003vey.2_Missense_Mutation_p.E1492K|LAMB4_uc010ljp.1_Missense_Mutation_p.E461K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1492	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGCACGTTTTCCTCTTAAATA	0.398000														57			52		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70478281	70478281	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70478281C>T	uc001xlt.2	+	8	1219	c.937C>T	c.(937-939)Cca>Tca	p.P313S	SMOC1_uc001xls.2_Missense_Mutation_p.P313S	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	313					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGGGAGCTACCAGGTGGGAG	0.572000														6			17		0	0	1	0	0
LPPR2	64748	broad.mit.edu	37	19	11468409	11468409	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:11468409C>T	uc002mrf.2	+	2	436	c.60C>T	c.(58-60)ttC>ttT	p.F20F	LPPR2_uc002mre.2_Silent_p.F20F|LPPR2_uc010dxy.2_5'Flank|Prion_pknot_uc021uph.1_5'Flank	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	20						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						GCTTTGTCTTCGTGGAGGTGA	0.582000														26			17		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242052799	242052799	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:242052799C>T	uc021plj.1	+	13	2752	c.2438C>T	c.(2437-2439)cCc>cTc	p.P813L	EXO1_uc001hzh.3_Missense_Mutation_p.P813L|EXO1_uc009xgq.3_Missense_Mutation_p.P812L|EXO1_uc021plk.1_3'UTR	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	813	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGTAAGAAACCCCTGTCCCCA	0.368000								Editing and processing nucleases						64			72		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3742372	3742372	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:3742372G>A	uc001aky.2	-	17	2673	c.2314C>T	c.(2314-2316)Cac>Tac	p.H772Y	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	772						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCAGTAGTGGAGATCCAGA	0.488000														12			28		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181392	3181392	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3181392C>T	uc002fvg.3	-	0	877	c.838G>A	c.(838-840)Gat>Aat	p.D280N		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	280					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						ACCCCTTTATCCTTGTCTGAA	0.478000														56			53		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8841889C>T	uc010xkg.2	+	0	499	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000														102			69		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327830	152327830	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152327830C>T	uc001ezw.4	-	2	2505	c.2432G>A	c.(2431-2433)gGa>gAa	p.G811E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	811	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCTGATCCATATTGGCC	0.522000														501			206		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754435	167754435	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:167754435T>C	uc003qvs.1	+	2	1135	c.1047T>C	c.(1045-1047)gtT>gtC	p.V349V		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	349	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCGCATGGTTATTCTCACCA	0.438000														155			147		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99538846	99538846	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:99538846G>A	uc001vnt.2	-	18	2134	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	DOCK9_uc001vnw.2_Silent_p.F692F|DOCK9_uc021rlw.1_Silent_p.F692F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.F693F|DOCK9_uc010tis.1_Silent_p.F692F|DOCK9_uc010tit.1_Silent_p.F693F|DOCK9_uc010afu.1_Silent_p.F508F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	693	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCTTCTTGTGAAAACTGGCC	0.383000														26			14		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150059	20150059	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20150059C>T	uc002wru.3	+	12	1454	c.1340C>T	c.(1339-1341)aCc>aTc	p.T447I	C20orf26_uc010zse.2_Missense_Mutation_p.T427I|C20orf26_uc010zsf.1_Missense_Mutation_p.T447I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	447										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACACCTGCACCCTCGAGCAG	0.483000														70			5		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121437753	121437753	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:121437753C>T	uc001pxx.3	+	21	3283	c.3154C>T	c.(3154-3156)Cca>Tca	p.P1052S		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1052	EGF-like.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGTGTGCTTCCATCAGGGGA	0.532000														33			23		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76210819	76210819	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:76210819C>A	uc021rkq.1	+	0	361	c.26C>A	c.(25-27)gCc>gAc	p.A9D	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Missense_Mutation_p.A9D	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	0						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGGCAGAGGCCAACTGCTCC	0.652000														5			4		0.014758	0.014758	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176003139	176003139	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176003139C>T	uc021yie.1	+	11	1421	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	CDHR2_uc003mem.2_Missense_Mutation_p.R383C|CDHR2_uc003men.1_Missense_Mutation_p.R383C	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	383	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGCCTCCCCCCGCATCCCCAT	0.642000														40			23		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651872	152651872	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:152651872G>A	uc021zhb.1	-	75	14171	c.13948C>T	c.(13948-13950)Cga>Tga	p.R4650*	SYNE1_uc003qot.4_Nonsense_Mutation_p.R4579*|SYNE1_uc003qou.4_Nonsense_Mutation_p.R4650*|SYNE1_uc010kiz.3_Nonsense_Mutation_p.R405*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4650					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TTAAATTGTCGAGGCAAAGCA	0.408000										HNSCC(10;0.0054)				73			62		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46860045	46860045	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:46860045G>A	uc003bhw.1	-	1	3742	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1248					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGTCGTTCTGGACGTTGAAG	0.652000														27			3		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743998	147743998	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:147743998G>A	uc004fcp.3	+	2	1229	c.750G>A	c.(748-750)ggG>ggA	p.G250G	AFF2_uc004fco.3_Silent_p.G246G|AFF2_uc004fcq.3_Silent_p.G246G|AFF2_uc004fcr.3_Silent_p.G246G|AFF2_uc011mxb.2_Silent_p.G250G|AFF2_uc004fcs.3_Silent_p.G246G	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	250					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCGCCTGGGTCTCCCCTAG	0.468000														16			115		0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53383907	53383907	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53383907G>A	uc002qag.3	-	3	1663	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.P437L|ZNF320_uc002qai.3_Missense_Mutation_p.P491L	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTCTCCAAAAGGAATTTTCTG	0.393000														90			18		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887190	62887190	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:62887190C>T	uc003peg.2	-	1	366	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCCTTTTTTCCATCAGAACC	0.328000														12			11		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77216283	77216283	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:77216283C>T	uc001syk.1	+	7	1032	c.869C>T	c.(868-870)tCc>tTc	p.S290F	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	290					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GACAATCCGTCCTTCCTTAGA	0.403000														16			14		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33457490	33457491	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:33457490_33457491TC>CT	uc003jhy.3	+	8	1261_1262	c.966_967TC>CT	c.(964-969)gatcat>gaCTat	p.H323Y	TARS_uc010iup.1_Missense_Mutation_p.H264Y|TARS_uc011coc.2_Missense_Mutation_p.H344Y|TARS_uc003jhz.3_Missense_Mutation_p.H219Y|TARS_uc011cod.2_Missense_Mutation_p.H202Y	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	323					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.D322Y(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAAACCGAGATCATAGGAAAAT	0.381000														52			27		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229248	21229248	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:21229248C>T	uc002red.3	-	25	10620	c.10492G>A	c.(10492-10494)Gga>Aga	p.G3498R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3498	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGACATCTCCTTTGGTAGAT	0.443000														78			47		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273369	162273369	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:162273369C>T	uc002ubw.1	+	0	750	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GGCCCACCACCCGGTCATCAC	0.682000														89			64		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703405	18703405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:18703405G>A	uc001bau.2	+	7	1596	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	IGSF21_uc001bav.2_Missense_Mutation_p.E226K	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	405	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGTTCCCGCCGAGCTCAATGG	0.667000														7			20		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193048957	193048957	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:193048957C>T	uc011bsq.2	-	11	1416	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	472					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGTTGATTCTCTGTGGGGAGA	0.458000														92			26		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044681	56044681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:56044681C>T	uc003pcs.3	-	2	567	c.335G>A	c.(334-336)gGa>gAa	p.G112E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G112E|COL21A1_uc003pcu.1_Missense_Mutation_p.G112E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	112	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G112R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTGTTTCCTCCTAAGTA	0.468000														43			12		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567174	4567174	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4567174C>T	uc010qyf.2	+	0	754	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGCCATCCTGATCTTTTA	0.512000														71			51		0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62458846	62458847	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62458846_62458847GC>TT	uc001nut.4	-	7	1512_1513	c.910_911GC>AA	c.(910-912)gcc>AAc	p.A304N	LRRN4CL_uc001nun.3_5'Flank|LRRN4CL_uc021qkm.1_5'Flank|BSCL2_uc001nup.3_Missense_Mutation_p.A240N|BSCL2_uc009yoc.2_Intron|BSCL2_uc001nur.4_Missense_Mutation_p.A304N|BSCL2_uc009yod.3_Missense_Mutation_p.A304N|HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	240					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GAAGTTGCTGGCAACACCTATG	0.554000														42			27		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192761	132192761	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:132192761G>A	uc003vra.4	-	1	921	c.692C>T	c.(691-693)tCg>tTg	p.S231L	PLXNA4_uc003vrc.2_Missense_Mutation_p.S231L|PLXNA4_uc003vrb.3_Missense_Mutation_p.S231L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	231	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAAGGTGTCCGAAGGGATCTT	0.483000														48			45		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	A	A	rs141164035		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:24256521G>A	uc003xdz.2	+	8	1117	c.897G>A	c.(895-897)ggG>ggA	p.G299G	ADAMDEC1_uc010lub.2_Silent_p.G220G|ADAMDEC1_uc011lab.1_Silent_p.G220G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(2)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTAACCTGGGGAAAAAGATCC	0.512000														25			15		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663283	71663283	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71663283G>A	uc002fau.3	+	1	544	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MARVELD3_uc002fas.1_Missense_Mutation_p.E161K|MARVELD3_uc002fat.3_Missense_Mutation_p.E161K|MARVELD3_uc010cge.3_Silent_p.R106R	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	161	Pro-rich.					integral to membrane		p.S160L(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACCCCCTTCGGAGAGATATCT	0.507000														45			23		0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11545695	11545695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:11545695C>T	uc002mrs.3	-	0	286	c.143G>A	c.(142-144)tGg>tAg	p.W48*	CCDC151_uc010dxz.3_Nonsense_Mutation_p.W48*|PRKCSH_uc002mrt.3_5'Flank|PRKCSH_uc002mru.3_5'Flank|PRKCSH_uc010xlz.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.3_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	48										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GCCTGGGGTCCACGCCTGGGC	0.607000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			39		0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179407171	179407171	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:179407171G>A	uc003mll.1	-	3	1130	c.723C>T	c.(721-723)gcC>gcT	p.A241A	RNF130_uc003mlm.1_Silent_p.A241A	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	241					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTACTGATGGCTTTCTTGG	0.373000														46			31		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24791866	24791866	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:24791866G>A	uc001wow.3	-	18	2810	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY4_uc010toh.2_Silent_p.F483F|ADCY4_uc001wox.3_Silent_p.F797F|ADCY4_uc001woy.3_Silent_p.F797F	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	797					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGAAGAAGATGAAGAAGGAGA	0.587000														24			12		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054207	29054207	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:29054207C>T	uc003nlx.3	-	0	884	c.819G>A	c.(817-819)atG>atA	p.M273I		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGAGGGAAACCATCTTTCCCC	0.443000														66			19		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423248	26423248	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:26423248G>A	uc003abz.1	+	42	7558	c.7308G>A	c.(7306-7308)aaG>aaA	p.K2436K	MYO18B_uc003aca.1_Silent_p.K2317K|MYO18B_uc010guy.1_Silent_p.K2318K|MYO18B_uc010guz.1_Silent_p.K2316K|MYO18B_uc011aka.1_Silent_p.K1590K|MYO18B_uc011akb.1_Silent_p.K1949K|MYO18B_uc010gva.1_Silent_p.K419K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2436						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.R2436H(1)		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						ACGAACGCAAGACCAAAGTGG	0.562000														18			49		0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393935	10393935	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:10393935G>A	uc002wnt.1	-	2	1115	c.228C>T	c.(226-228)atC>atT	p.I76I	MKKS_uc002wnu.1_Silent_p.I76I|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	76					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGGCTGTCAGGATCTTTAAAA	0.443000														59			47		0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427427	80427427	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:80427427G>A	uc011kgw.2	-	10	1245	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	SEMA3C_uc003uhj.3_Missense_Mutation_p.P371L|SEMA3C_uc011kgx.1_Missense_Mutation_p.P223L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	371	Sema.				immune response|response to drug	membrane	receptor activity	p.P371L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGAGGATATGGAATTCTGCC	0.383000														29			19		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94480247	94480247	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94480247C>T	uc001dqh.3	-	38	5417	c.5313_splice	c.e38-1	p.G1771_splice	ABCA4_uc009wdp.1_Splice_Site_p.G39_splice	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1771					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACCGCCCATCTGTGTGAAAT	0.478000														165			69		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250644	28250644	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:28250644C>T	uc009xky.3	-	10	1337	c.1239_splice	c.e10-1	p.R413_splice	ARMC4_uc010qds.2_Splice_Site|ARMC4_uc010qdt.2_Splice_Site_p.R105_splice|ARMC4_uc001itz.3_Splice_Site_p.R413_splice|ARMC4_uc010qdu.1_Splice_Site_p.R105_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	413							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGCACTCTTCCTAAGAACAA	0.438000														44			23		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228113	47228113	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:47228113G>A	uc002pfm.3	-	11	1599	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	STRN4_uc002pfl.3_Silent_p.I515I|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	515						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)		TCCAACTATGGATGCAGGCAT	0.582000														19			23		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592972	11592972	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:11592972C>T	uc002gne.3	+	19	3901	c.3833C>T	c.(3832-3834)tCt>tTt	p.S1278F	DNAH9_uc010coo.3_Missense_Mutation_p.S572F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1278	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)		ATTTCTGAGTCTGCCAGCTTA	0.502000														82			40		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063265	72063265	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:72063265G>A	uc021rkj.1	-	6	2015	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	DACH1_uc021rkk.1_Missense_Mutation_p.S383F|DACH1_uc021rkl.1_Missense_Mutation_p.S329F	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	581					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGTTGGTGTAGAAAGCGGGGT	0.443000														182			92		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912207	87912207	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:87912207G>A	uc022agz.1	-	3	956	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	STEAP4_uc003ujs.3_Missense_Mutation_p.R245C|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	245					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGAAAGATACGATTTGGAATG	0.373000														54			56		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887522	23887522	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23887522C>T	uc001wjx.3	-	29	4172	c.4066G>A	c.(4066-4068)Gag>Aag	p.E1356K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1356			E -> K (in CMH1).	E -> R (in Ref. 14; CAA27381).	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1356K(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCTGCAGCTCGGCCTTGGCC	0.667000														34			50		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138174084	138174084	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:138174084T>C	uc003esk.3	+	2	644	c.418T>C	c.(418-420)Ttc>Ctc	p.F140L	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	140						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGAAAGCAAGTTCCGGGAGAA	0.522000														54			43		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672205	77672205	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:77672205G>A	uc021rks.1	-	55	9351	c.9084C>T	c.(9082-9084)gcC>gcT	p.A3028A	MYCBP2_uc010aev.3_Silent_p.A2394A|MYCBP2_uc001vkg.1_Silent_p.A513A|MYCBP2_uc010aew.3_Silent_p.A376A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2990					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGCACATTCGGCCACAGAAG	0.453000														64			55		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639511	7639511	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7639511C>T	uc001qsz.3	-	8	2250	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	CD163_uc001qta.3_Missense_Mutation_p.E708K|CD163_uc009zfw.2_Missense_Mutation_p.E741K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	708					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGCACTTTCTTCTGGAATG	0.413000														44			37		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402697	248402697	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248402697G>A	uc010pzh.2	+	0	467	c.467G>A	c.(466-468)gGg>gAg	p.G156E		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D155H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTCTTGATGGGATCATAGTG	0.458000														78			117		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997477	165997477	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:165997477G>A	uc002ucx.3	-	12	2195	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	SCN3A_uc002ucy.3_Missense_Mutation_p.S568F|SCN3A_uc002ucz.3_Missense_Mutation_p.S568F|SCN3A_uc002uda.1_Missense_Mutation_p.S437F|SCN3A_uc002udb.1_Missense_Mutation_p.S437F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	568						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCGTCTTGGGGAAAACAGGGA	0.423000														24			11		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361469	70361469	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:70361469C>T	uc003hek.4	-	0	158	c.111G>A	c.(109-111)atG>atA	p.M37I	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.M37I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	37					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.W36C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCTTTATATTCATCCAGTGGC	0.468000														127			99		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368857	100368858	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:100368857_100368858CC>TT	uc003pqh.1	-	5	1296_1297	c.981_982GG>AA	c.(979-984)aaggaa>aaAAaa	p.E328K	MCHR2_uc003pqi.1_Missense_Mutation_p.E328K	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTGTTGATTTCCTTCTCAGTCG	0.411000														65			63		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671494	7671494	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7671494G>A	uc002giu.1	+	22	3864	c.3850G>A	c.(3850-3852)Gaa>Aaa	p.E1284K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1284	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)				CCGAAACTGGGAAATTATTGA	0.547000														112			71		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009479	9009479	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:9009479C>T	uc001apm.3	+	1	261	c.237C>T	c.(235-237)ccC>ccT	p.P79P	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	79					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTTCCCCATGGTCAACA	0.592000														25			3		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120385353	120385353	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:120385353C>T	uc002tmb.3	+	16	1895	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PCDP1_uc010yyq.2_Silent_p.S391S	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	547						cilium	calmodulin binding					Colorectal(110;0.196)					CCCAGGACTCCAACGAGTTGG	0.592000														50			32		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75960977	75960977	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:75960977C>T	uc003kek.3	+	21	2878	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	IQGAP2_uc010izv.2_Nonsense_Mutation_p.Q439*|IQGAP2_uc011csv.2_Nonsense_Mutation_p.Q382*|IQGAP2_uc003kel.3_Nonsense_Mutation_p.Q382*	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	886					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAAACATATCAGCAGCTGTT	0.358000														54			31		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509846	26509846	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:26509846G>A	uc001bln.4	+	7	752	c.694G>A	c.(694-696)Gac>Aac	p.D232N	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.D232N|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	232	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCCCACTGACTCCCGACT	0.632000														41			79		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781710	46781710	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:46781710G>A	uc002eei.4	-	0	512	c.396C>T	c.(394-396)ttC>ttT	p.F132F	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	132					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTGATTTCTGGAACGTGGCCC	0.647000														33			23		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16248591	16248591	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16248591C>T	uc002den.4	-	28	4139	c.4102G>A	c.(4102-4104)Gac>Aac	p.D1368N	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1368	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATAGCCTCGTCCGAGTGCTCC	0.672000														8			6		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11737961	11737961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:11737961G>A	uc002gne.3	+	48	9321	c.9253G>A	c.(9253-9255)Gat>Aat	p.D3085N	DNAH9_uc010coo.3_Missense_Mutation_p.D2379N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3085	Stalk (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)		GCAGGTGGATGATCTGAAAGC	0.517000														14			14		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893749	123893749	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:123893749C>T	uc010sad.2	+	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A9E(1)|p.A9V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		TGACAGCGTTCATCCTCACGG	0.542000														127			66		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398615	197398615	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197398615C>T	uc001gtz.3	+	7	2922	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	CRB1_uc010poz.2_Missense_Mutation_p.R881W|CRB1_uc009wza.3_Missense_Mutation_p.R793W|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.R386W|CRB1_uc001gub.1_Missense_Mutation_p.R554W	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	905	EGF-like 13.		R -> Q.		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCCATTCCCGGTGGGATGA	0.502000														112			38		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506312	11506312	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:11506312C>T	uc001qzw.1	-	3	759	c.722G>A	c.(721-723)gGa>gAa	p.G241E	PRB1_uc001qzu.1_Missense_Mutation_p.G109E|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	303	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.612000														147			123		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307831	54307831	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54307831G>A	uc021smr.1	+	0	2731	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	UNC13C_uc021sms.1_Missense_Mutation_p.E911K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	911					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCTTTCATATGAAACACCTTA	0.383000														54			36		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325258	9325258	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9325258G>A	uc002mla.2	-	0	290	c.256C>T	c.(256-258)Cag>Tag	p.Q86*		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CTCCGTGCCTGGATGCTCACT	0.502000														65			38		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021013	5021013	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5021013G>A	uc010qyu.2	+	0	801	c.801G>A	c.(799-801)ggG>ggA	p.G267G		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCGCTTTGGGAAGCATCTGT	0.463000														31			33		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100785	34100785	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:34100785G>A	uc003oir.4	-	0	852	c.489C>T	c.(487-489)atC>atT	p.I163I	GRM4_uc011dsn.2_Silent_p.I163I|GRM4_uc010jvh.3_Silent_p.I163I|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.I82I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	163					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TGGCCACCATGATGGAGACCG	0.622000														37			13		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938165	21938165	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:21938165C>T	uc010tzj.1	-	0		c.2575G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GAGGCAAGTTCCCCACCCCAG	0.542000														45			18		0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551324	100551324	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100551324C>T	uc001tgs.3	-	3	716	c.272G>A	c.(271-273)gGg>gAg	p.G91E	GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript|DQ579681_uc001tgx.3_5'Flank					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		TCTCCATGGCCCCCTGCAGGG	0.612000														59			10		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276837	186276837	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:186276837G>A	uc001gru.4	+	6	2037	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.E621E|PRG4_uc009wyl.3_Silent_p.E569E|PRG4_uc009wym.3_Silent_p.E528E|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	662	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACCCCTGAGGAGCCTGCTC	0.667000														82			33		0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103827792	103827792	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:103827792G>A	uc003hww.3	-	9	1238	c.1096C>T	c.(1096-1098)Caa>Taa	p.Q366*	SLC9B1_uc003hwu.3_Nonsense_Mutation_p.Q366*|SLC9B1_uc010ilm.3_Nonsense_Mutation_p.Q133*|SLC9B1_uc003hwv.3_Non-coding_Transcript|SLC9B1_uc011cev.2_Nonsense_Mutation_p.Q139*	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	366						integral to membrane	solute:hydrogen antiporter activity										ATAATCTTTTGGACTTTCATC	0.303000														19			21		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81593145	81593145	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81593145G>A	uc001szl.1	+	8	1367	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	ACSS3_uc001szm.1_Missense_Mutation_p.E425K|ACSS3_uc001szn.1_Missense_Mutation_p.E108K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	426						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGTGGCTGGAGAACGATGTGA	0.343000														23			24		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015379	53015379	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53015379C>T	uc002pzp.4	+	5	1989	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTGATTGATTCATCAATCAAG	0.393000														48			22		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595361	140595361	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140595361G>A	uc003lja.1	+	0	1853	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	556	Cadherin 5.				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)			GGACGCCAACGACAACTCGCC	0.721000														52			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647762	179647762	+	Silent	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179647762A>C	uc021vsy.1	-	17	3096	c.2871T>G	c.(2869-2871)ggT>ggG	p.G957G	TTN_uc021vsz.1_Silent_p.G911G|TTN_uc021vta.1_Silent_p.G911G|TTN_uc021vtb.1_Silent_p.G911G|TTN_uc002unb.2_Silent_p.G957G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	957	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGATTCACCTTCTATGA	0.398000														47			30		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373768	126373768	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126373768G>A	uc003ifj.4	+	8	11597	c.11597G>A	c.(11596-11598)tGt>tAt	p.C3866Y	FAT4_uc011cgp.2_Missense_Mutation_p.C2164Y|FAT4_uc003ifi.1_Missense_Mutation_p.C1344Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3866	EGF-like 2; calcium-binding (Potential).				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						ATAGATGAATGTCTTCCATCA	0.488000														29			14		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744407	76744407	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76744407C>T	uc003pik.1	-	2	529	c.399G>A	c.(397-399)gaG>gaA	p.E133E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	133					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.Q132*(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGCAGAAGGTCTCCTGCTGGC	0.498000														59			36		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671110	99671110	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:99671110G>A	uc002bup.3	+	4	2662	c.2542G>A	c.(2542-2544)Gtg>Atg	p.V848M	SYNM_uc002buo.3_Missense_Mutation_p.V848M|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	849	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGACGGCTCGGTGTACGGGCA	0.567000														26			20		0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6054871	6054871	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:6054871C>T	uc003spo.3	+	1	343	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2), mRNA.	77					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GATGGCCTCTCCAAGATGATT	0.448000														70			61		0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21488738	21488738	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21488738T>C	uc001vyy.3	-	8	622	c.472A>G	c.(472-474)Aac>Gac	p.N158D	NDRG2_uc010tll.2_Missense_Mutation_p.N154D|NDRG2_uc001vyt.3_Missense_Mutation_p.N71D|NDRG2_uc001vyu.3_Intron|NDRG2_uc001vyv.3_Missense_Mutation_p.N144D|NDRG2_uc001vyw.3_Missense_Mutation_p.N144D|NDRG2_uc001vzb.3_Missense_Mutation_p.N98D|NDRG2_uc001vyx.3_Missense_Mutation_p.N158D|NDRG2_uc001vza.3_Missense_Mutation_p.N144D|NDRG2_uc001vyz.3_Missense_Mutation_p.N144D|NDRG2_uc001vzc.3_Missense_Mutation_p.N144D|NDRG2_uc010aig.3_Missense_Mutation_p.N158D|NDRG2_uc001vze.3_Missense_Mutation_p.N158D|NDRG2_uc001vzd.3_Missense_Mutation_p.N158D|NDRG2_uc001vzg.3_Missense_Mutation_p.N144D|NDRG2_uc001vzf.3_Missense_Mutation_p.N144D	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	158					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCCGGGTGGTTAAGCTGAGGG	0.567000														15			6		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616315	121616315	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121616315C>T	uc003eep.2	+	2	427	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	SLC15A2_uc011bjn.1_Missense_Mutation_p.L92F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	92					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTTCAGCAGCCTCTGTTATTT	0.453000														59			46		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716857	13716857	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:13716857G>C	uc001rbt.2	-	12	3494	c.3315C>G	c.(3313-3315)atC>atG	p.I1105M		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1105					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGCCAGCTCGATCTCGTCAA	0.612000														39			20		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117314740	117314740	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117314740C>T	uc001prh.1	-	20	3906	c.3904G>A	c.(3904-3906)Gag>Aag	p.E1302K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1242	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGACTCGTCTCGTACTCGCTG	0.642000														26			13		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296113	20296113	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20296113G>T	uc010tkv.2	+	0	506	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCCTTTTTGTGGCCCAAAC	0.517000														177			53		1.78197e-24	1.80939e-24	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83251299	83251299	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:83251299T>C	uc001szt.3	+	1	1026	c.594T>C	c.(592-594)gtT>gtC	p.V198V	TMTC2_uc001szr.1_Silent_p.V198V|TMTC2_uc001szs.1_Silent_p.V198V|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	198						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTCAGCAGTTTATGATGTCT	0.453000														40			34		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32085407	32085407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32085407G>A	uc003nzn.3	-	12	1522	c.1489C>T	c.(1489-1491)Ctc>Ttc	p.L497F	TNXB_uc010jts.1_5'UTR|ATF6B_uc003nzm.1_Missense_Mutation_p.L70F|ATF6B_uc003nzo.3_Missense_Mutation_p.L494F|ATF6B_uc003nzp.1_Missense_Mutation_p.L186F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	497					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGAGGAGAGGAAGAGCTGG	0.592000														23			27		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84561340	84561340	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:84561340C>T	uc004eer.2	-	12	1311	c.1165_splice	c.e12-1	p.Q389_splice	POF1B_uc004ees.3_Splice_Site_p.Q389_splice	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	389							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GAAGTCCTTGCTGTAAAGAAG	0.343000														7			61		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531763	71531763	+	Silent	SNP	G	A	A	rs138372272		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:71531763G>A	uc009zrt.1	-	4	576	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TSPAN8_uc001swk.1_Silent_p.F138F|TSPAN8_uc001swj.1_Silent_p.F138F	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	138					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.F138F(2)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGGCTTCCTGGAATTGTTTTT	0.328000														70			57		0	0	1	0	0
IL31	386653	broad.mit.edu	37	12	122657009	122657009	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:122657009C>T	uc001ubv.3	-	2	472	c.445G>A	c.(445-447)Gac>Aac	p.D149N	LRRC43_uc001ubw.4_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	Homo sapiens interleukin 31 (IL31), mRNA.	149						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		AGTGCGAGGTCCATGCACTCT	0.443000														95			12		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9806848	9806848	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:9806848C>T	uc001mib.2	-	36	5193	c.5055G>A	c.(5053-5055)tcG>tcA	p.S1685S	LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Silent_p.S329S|SBF2_uc001mic.2_5'UTR|BC073899_uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1685					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGGGGATCTCGACAGGTGTC	0.443000														51			26		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635228	33635228	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:33635228G>A	uc001uus.3	+	3	2020	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	671	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.A670V(1)|p.R671*(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAGTATGCCCGACTGTGCTTT	0.577000														46			26		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173883952	173883952	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:173883952C>T	uc001gjt.3	-	1	266	c.147G>A	c.(145-147)atG>atA	p.M49I		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	49					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	ACATGGGATTCATGGGAATGT	0.572000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			117		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954436	30954436	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30954436G>A	uc003nsh.2	+	1	735	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.A146T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	162	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.E161K(1)|p.E161G(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGTGAGGCCAGCACAGC	0.617000														188			291		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055999	58055999	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:58055999G>A	uc021rtp.1	-	2	568	c.519C>T	c.(517-519)ttC>ttT	p.F173F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F51F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.									p.S173S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATAGACTGGGAAAAACATAA	0.348000														42			8		0	0	1	0	0
SPRR2A	6700	broad.mit.edu	37	1	153029048	153029048	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:153029048G>A	uc021ozr.1	-	0	164	c.164C>T	c.(163-165)cCt>cTt	p.P55L	SPRR2A_uc001fbf.3_Non-coding_Transcript|SPRR2A_uc001fbd.3_Missense_Mutation_p.P55L	NM_005988	NP_005979	P35326	SPR2A_HUMAN	Homo sapiens small proline-rich protein 2A (SPRR2A), mRNA.	55					keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCACAGGAGGATATTTCTG	0.547000														174			61		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52851606	52851606	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:52851606G>A	uc001ctt.3	-	8	1630	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S	ORC1_uc010oni.2_Missense_Mutation_p.P462S|ORC1_uc001ctu.3_Missense_Mutation_p.P467S	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	467					DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCACAACGTGGCGTTCTAGGC	0.507000														10			27		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275619	5275619	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5275619C>T	uc001mai.1	-	1	655	c.218G>A	c.(217-219)gGa>gAa	p.G73E	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.G73E	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	73			G -> R (in Iwata).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	p.G73E(1)		large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGCATCTCCCAAGGAAGT	0.527000														208			63		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038586	62038586	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62038586C>T	uc002yey.1	-	16	2207	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	KCNQ2_uc002yez.1_Missense_Mutation_p.R646Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.R659Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.R649Q	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	677					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S676R(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GACATGCTCCCGGCTGTCTTC	0.682000														18			18		0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899737	128899737	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:128899737G>A	uc021rgn.1	+	1	546	c.546G>A	c.(544-546)cgG>cgA	p.R182R		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	182						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GAGAGGTGCGGGGCAGCTGCC	0.637000														9			8		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1038509	1038509	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1038509T>C	uc001ift.3	+	1	200	c.129T>C	c.(127-129)atT>atC	p.I43I	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_5'UTR|GTPBP4_uc010qae.2_5'UTR	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	43					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TACATCGCATTAGACATTTTT	0.333000														17			19		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524591	10524591	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:10524591G>A	uc002czw.3	+	1	273	c.114G>A	c.(112-114)ctG>ctA	p.L38L	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.L38L|ATF7IP2_uc002czv.3_Silent_p.L38L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTGAAGCGCTGAAAACAGCAA	0.403000														36			39		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31147119	31147119	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:31147119C>T	uc002rns.3	-	13	1901	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	GALNT14_uc002rnq.3_Missense_Mutation_p.E396K|GALNT14_uc010ymr.2_Missense_Mutation_p.E381K|GALNT14_uc002rnr.3_Missense_Mutation_p.E416K|GALNT14_uc010ezo.2_Missense_Mutation_p.E383K	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	416	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATGGAGGACTCCTTGGGGATG	0.527000														46			38		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276152	152276152	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152276152G>A	uc001ezu.1	-	2	11246	c.11210C>T	c.(11209-11211)tCc>tTc	p.S3737F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3737	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCGTGGCGGGATCCTTGTCT	0.602000									Ichthyosis					249			416		0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77084453	77084453	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77084453G>A	uc003hju.2	-	10	1679	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	SCARB2_uc011cbu.2_Silent_p.I298I	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	441					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GCGCCATGATGATGTAGGGTA	0.453000														39			55		0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6982078	6982078	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6982078C>T	uc002gek.3	-	1	357	c.54G>A	c.(52-54)caG>caA	p.Q18Q	CLEC10A_uc002gej.3_Silent_p.Q18Q|CLEC10A_uc010clv.2_Silent_p.Q18Q	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	18					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TTTTAAACCCCTGGACTTTCA	0.448000														113			39		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666580	167666580	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167666580G>A	uc001gem.3	+	5	906	c.719G>A	c.(718-720)aGg>aAg	p.R240K	RCSD1_uc010pli.2_Missense_Mutation_p.R210K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	240	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTCCTCTGAGGAGGTCACCC	0.612000														23			37		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79408979	79408979	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:79408979C>T	uc002kaf.2	+	3	418	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	202							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GGATCGAGACCGGGGTGAGGC	0.721000														40			9		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730610	5730610	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5730610T>C	uc001mbr.3	+	7	1608	c.1229T>C	c.(1228-1230)aTa>aCa	p.I410T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.I238T|TRIM22_uc009yes.3_Missense_Mutation_p.I406T|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	410	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TACTGGGTTATAGGATTACAG	0.388000														62			59		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846469	123846469	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:123846469C>T	uc001lfv.3	+	3	4814	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S1485F|TACC2_uc010qtv.2_Missense_Mutation_p.S1485F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1485						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTGAGATTTCCCATCTGGCT	0.592000														34			26		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607835	61607835	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:61607835G>A	uc002jay.3	+	3	687	c.607G>A	c.(607-609)Gag>Aag	p.E203K	KCNH6_uc002jax.1_Missense_Mutation_p.E203K|KCNH6_uc010wpl.2_Missense_Mutation_p.E80K|KCNH6_uc010wpm.2_Missense_Mutation_p.E203K|KCNH6_uc002jaz.1_Missense_Mutation_p.E203K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	203					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCCACCACGGAGATTGAGAT	0.592000														52			25		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32863824	32863824	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:32863824T>A	uc001utx.3	+	58	9020	c.8524T>A	c.(8524-8526)Ttt>Att	p.F2842I	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.F373I|FRY_uc010tdx.2_Missense_Mutation_p.F212I	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTATTGCTTTTTCAGTCCTA	0.458000														30			30		0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427429	80427429	+	Silent	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:80427429A>T	uc011kgw.2	-	10	1243	c.1164T>A	c.(1162-1164)atT>atA	p.I388I	SEMA3C_uc003uhj.3_Silent_p.I370I|SEMA3C_uc011kgx.1_Silent_p.I222I	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	370	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAGGATATGGAATTCTGCCCT	0.388000														27			21		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17491664	17491664	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:17491664G>A	uc001mnc.3	-	2	522	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ABCC8_uc010rcy.1_Silent_p.F132F|ABCC8_uc021qej.1_Non-coding_Transcript	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	132			F -> L (in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGCTTGGGGAAGTTGGAAG	0.507000														23			18		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119300560	119300560	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:119300560C>T	uc003pyj.3	-	10	2773	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	FAM184A_uc003pyk.4_Missense_Mutation_p.E689K|FAM184A_uc003pyl.4_Missense_Mutation_p.E689K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	809										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTCTAATTCAAACCGAAGA	0.348000														38			46		0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171867950	171867950	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:171867950G>A	uc002ugo.2	-	14	1884	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	TLK1_uc002ugn.2_Missense_Mutation_p.P450L|TLK1_uc002ugp.2_Missense_Mutation_p.P402L|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Missense_Mutation_p.P354L	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	450	Protein kinase.			Y -> D (in Ref. 1; BAA20562).	cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTTAATGTTGGGTGATCTTT	0.318000														40			25		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907815	12907815	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:12907815C>T	uc010obf.2	-	1	554	c.328G>A	c.(328-330)Gac>Aac	p.D110N	LOC649330_uc009vno.2_Missense_Mutation_p.D110N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	110							nucleic acid binding|nucleotide binding										TAGTCCAAGTCAAAAGAGGAG	0.502000														57			9		0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110764	175110764	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:175110764C>T	uc003mdc.4	+	1	1172	c.528C>T	c.(526-528)gtC>gtT	p.V176V	HRH2_uc003mdd.2_Silent_p.V176V	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	176					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGTGCAAAGTCCAGGTCAATG	0.542000														32			31		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453002	138453002	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:138453002C>T	uc003ihe.4	-	0	628	c.241G>A	c.(241-243)Gag>Aag	p.E81K	PCDH18_uc003ihf.4_Missense_Mutation_p.E74K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	81	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E81*(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATTATCCTCGTTTACTACA	0.428000														189			25		0	0	1	0	0
C1orf144	26099	broad.mit.edu	37	1	16719944	16719944	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16719944C>T	uc010ocb.1	+	1	440	c.263C>T	c.(262-264)cCc>cTc	p.P88L	C1orf144_uc001aym.4_Missense_Mutation_p.P108L|C1orf144_uc001ayi.4_Missense_Mutation_p.P89L|C1orf144_uc001ayk.4_Missense_Mutation_p.P88L|C1orf144_uc021ogn.1_5'Flank	NM_015609	NP_056424	Q7Z422	CA144_HUMAN	Homo sapiens chromosome 1 open reading frame 144 (C1orf144), transcript variant 2, mRNA.	108										cervix(1)|lung(1)|ovary(1)|urinary_tract(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGCCAGCCCCGAGGAGGAG	0.672000														4			7		0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123199776	123199776	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:123199776G>A	uc004eua.3	+	20	2480	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K	STAG2_uc004etz.4_Silent_p.K692K|STAG2_uc004eub.3_Silent_p.K692K|STAG2_uc004euc.3_Silent_p.K692K|STAG2_uc004eud.3_Silent_p.K692K|STAG2_uc004eue.3_Silent_p.K692K	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	692					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAACATTGAAGAGGATCACTG	0.308000														8			37		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Missense_Mutation	SNP	C	T	T	rs144099662	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168726189C>T	uc021vsc.1	+	0	640	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	B3GALT1_uc002udz.1_Missense_Mutation_p.R214W	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000														52			28		0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153514483	153514483	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:153514483G>A	uc002tyh.4	-	24	2642	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	PRPF40A_uc002tyg.4_Missense_Mutation_p.R330W|PRPF40A_uc010zcd.1_Missense_Mutation_p.R825W	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	901					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCACTTTCCCGATCTTTTTCT	0.348000														6			9		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137616	97137616	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:97137616C>T	uc021rcc.1	+	20	2838	c.2760C>T	c.(2758-2760)ttC>ttT	p.F920F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	920										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTGAGAAATTCAAGGAATCTC	0.398000														29			34		0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963176	100963176	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:100963176A>G	uc003duq.2	-	12	2202	c.1999T>C	c.(1999-2001)Tat>Cat	p.Y667H	IMPG2_uc011bhe.2_Missense_Mutation_p.Y530H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	667					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						TCATGTTCATATTTTGAGTGC	0.428000														48			44		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20651861	20651861	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:20651861G>A	uc002dhm.1	-	6	1106	c.1038C>T	c.(1036-1038)gtC>gtT	p.V346V	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.V346V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	346					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGGCAACACGACCTCCCCGC	0.572000														25			16		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898081	36898081	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36898081C>T	uc003cgj.3	-	11	3248	c.3000G>A	c.(2998-3000)acG>acA	p.T1000T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1000					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGTGGCTGTCGTGTCATTGA	0.532000														127			73		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738853	84738853	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:84738853C>T	uc021pvc.1	+	7	1587	c.1560C>T	c.(1558-1560)gaC>gaT	p.D520D	NRG3_uc010qlz.1_Silent_p.D519D|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.D520D|NRG3_uc001kcp.2_Silent_p.D299D|NRG3_uc001kcq.2_Silent_p.D170D|NRG3_uc021pvd.1_Silent_p.D299D|NRG3_uc021pve.1_Silent_p.D324D|NRG3_uc021pvf.1_Silent_p.D170D|NRG3_uc021pvg.1_Silent_p.D324D|NRG3_uc021pvh.1_Silent_p.D108D|NRG3_uc021pvi.1_Silent_p.D350D|NRG3_uc021pvk.1_Silent_p.D36D|NRG3_uc001kcr.2_Silent_p.D170D|NRG3_uc021pvl.1_Silent_p.D170D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	520					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGATCCCAGACCAGGATACGA	0.463000														26			9		0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110086255	110086255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:110086255C>T	uc003ptt.2	+	13	1689	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	FIG4_uc011eau.1_Missense_Mutation_p.R215C	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	492	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CTGTTTAGATCGCACCAACAC	0.403000														59			37		0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43484868	43484869	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43484868_43484869GG>AA	uc003ovn.3	+	0	92_93	c.21_22GG>AA	c.(19-24)gtggag>gtAAag	p.E8K	YIPF3_uc003ovl.2_5'Flank|YIPF3_uc011dvk.2_5'Flank|POLR1C_uc003ovo.2_Missense_Mutation_p.E8K	NM_203290	NP_976035	O15160	RPAC1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide C, 30kDa (POLR1C), mRNA.	8					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CTCAGGCGGTGGAGGAAATGCG	0.604000														116			45		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532853	92532853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:92532853G>A	uc001pdj.4	+	8	6691	c.6674G>A	c.(6673-6675)gGg>gAg	p.G2225E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2225	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTATCGATGGGGACCCTTTT	0.413000										TCGA Ovarian(4;0.039)				16			9		0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64708113	64708113	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:64708113C>T	uc001ocb.1	-	7	543	c.479G>A	c.(478-480)gGg>gAg	p.G160E	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Silent_p.R103R	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	160										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTTTCTTTCCCTATTCTGTT	0.408000														30			20		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98154978	98154978	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:98154978G>A	uc001kml.2	-	12	1933	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	TLL2_uc009xvf.2_Silent_p.I542I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	564	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCGCTTTATTGATAGAGCCAT	0.463000														64			39		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580853	140580853	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140580853C>T	uc003liy.3	+	0	1506	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.642000														153			95		0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121164928	121164928	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:121164928C>T	uc001tza.4	+	1	264	c.146C>T	c.(145-147)gCc>gTc	p.A49V	ACADS_uc010szl.1_Missense_Mutation_p.A49V	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	49						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CGGGACTTTGCCGAGAAGGAG	0.572000														129			86		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502207	20502207	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20502207G>A	uc010tkz.2	-	0	711	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAGAGTGGAGAAAGCCTTAG	0.478000														47			38		0	0	1	0	0
IFITM2	10581	broad.mit.edu	37	11	308107	308107	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:308107G>A	uc001lox.4	+	1	1	c.-85_splice	c.e1-1			NM_006435	NP_006426	Q01629	IFM2_HUMAN	Homo sapiens interferon induced transmembrane protein 2 (1-8D) (IFITM2), mRNA.						response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCAGGAAGAGGAAACTGT	0.512000														101			77		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692210	17692210	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:17692210G>A	uc002rcl.1	-	2	3365	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L	RAD51AP2_uc010exn.1_Missense_Mutation_p.P1105L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1114	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATGCCATGTGGAAAGTGACT	0.323000														16			3		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539409	56539409	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56539409G>A	uc002qmj.3	+	6	1810	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	NLRP5_uc002qmi.3_Missense_Mutation_p.E585K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	604						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGAAATCGAGCCAGCTCT	0.522000														23			12		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851563	43851563	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:43851563C>T	uc010ggz.3	+	1	1347	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	SEMG2_uc002xnk.3_Silent_p.S430S|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	430	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAGGTGTATCCAAAGGCAGTA	0.378000														63			46		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125110103	125110103	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:125110103C>T	uc003yqw.3	+	36	5068	c.4862C>T	c.(4861-4863)tCa>tTa	p.S1621L	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1621	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCCAAAAATCAAGTGATATT	0.398000														44			23		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026818	79026818	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79026818C>T	uc003kgc.3	+	1	2302	c.2230C>T	c.(2230-2232)Cca>Tca	p.P744S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	744						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCGTTTACTCCAGCTGTGGC	0.468000														42			47		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	1020924	1020924	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:1020924C>T	uc021tae.1	-	0	61	c.57G>A	c.(55-57)aaG>aaA	p.K19K	LMF1_uc010uuu.2_5'UTR|LMF1_uc021tad.1_5'UTR|LMF1_uc010bri.2_5'UTR|LMF1_uc002ckk.2_Intron|LMF1_uc010uuv.1_Non-coding_Transcript	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	19						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				AGTACCCAGTCTTCCGCCTCC	0.736000														6			6		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687515	158687515	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158687515G>A	uc021pbn.1	-	0	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATTTGATAGCGAAGAGGGTTG	0.493000														77			100		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486182	36486182	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36486182C>T	uc002hpz.3	-	10	3291	c.3270G>A	c.(3268-3270)gcG>gcA	p.A1090A		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1090						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCTTTAATCGCCAGCCCCA	0.582000														38			26		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800297	48800297	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:48800297G>A	uc002pir.2	-	13	2632	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	CCDC114_uc002piq.2_Missense_Mutation_p.S459F|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	650	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCGGTGCTGGAGACGTGGTC	0.692000														30			21		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42480654	42480654	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42480654C>T	uc002osh.3	-	14	2162	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	ATP1A3_uc010xwf.2_Missense_Mutation_p.E681K|ATP1A3_uc010xwg.2_Missense_Mutation_p.E640K|ATP1A3_uc002osg.3_Missense_Mutation_p.E670K|ATP1A3_uc010xwh.2_Missense_Mutation_p.E683K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	670					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.D669N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGCAGGATCTCGTCGATTTGC	0.607000														60			6		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410265	45410265	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45410265G>A	uc001rok.1	-	3	996	c.824C>T	c.(823-825)cCa>cTa	p.P275L		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TGAAGGACATGGAGAAGGGAA	0.493000														67			44		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17720841	17720841	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:17720841G>A	uc021uqk.1	-	41	4758	c.4716C>T	c.(4714-4716)atC>atT	p.I1572I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1573	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGGCCCAATGATGTTGACCT	0.517000														64			58		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584282	8584282	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:8584282G>A	uc003glk.3	+	1	1186	c.693G>A	c.(691-693)caG>caA	p.Q231Q	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	231					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCCTCATCCAGCAGAAGCGGC	0.632000														35			36		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2605261	2605261	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:2605261A>G	uc002fuy.1	-	3	538	c.452T>C	c.(451-453)gTt>gCt	p.V151A	KIAA0664_uc002fux.1_Missense_Mutation_p.V83A	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	151							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GTTGCAGTCAACCCCGTTGAA	0.647000														28			16		0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975938	42975938	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:42975938G>A	uc003oth.3	+	8	944	c.858_splice	c.e8-1	p.R286_splice	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Splice_Site_p.R180_splice|PPP2R5D_uc011dva.2_Splice_Site_p.R135_splice|PPP2R5D_uc003oti.3_Splice_Site_p.R135_splice|PPP2R5D_uc021yzq.1_Splice_Site_p.R254_splice|PPP2R5D_uc003otj.3_Splice_Site_p.R135_splice	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	286					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTTCCCTCAGGTTCATCTAC	0.572000														172			53		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244473	46244473	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:46244473C>T	uc001ros.1	+	14	2567	c.2567C>T	c.(2566-2568)aCt>aTt	p.T856I	ARID2_uc001ror.3_Missense_Mutation_p.T856I|ARID2_uc009zkg.1_Missense_Mutation_p.T312I|ARID2_uc009zkh.1_Missense_Mutation_p.T483I|ARID2_uc001rou.1_Missense_Mutation_p.T190I	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	856	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TATGTAACAACTTCTGCATCC	0.448000			"""N, S, F"""		hepatocellular carcinoma									89			61		0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53621199	53621199	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53621199G>A	uc001scf.3	-	2	623	c.131C>T	c.(130-132)cCt>cTt	p.P44L	RARG_uc001scg.3_Intron|RARG_uc010soc.2_Intron|RARG_uc001sce.3_Missense_Mutation_p.P44L	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	44	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCGGAAGCTAGGGCTCAGCAT	0.622000														31			23		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29041314	29041314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29041314G>A	uc002kws.3	+	7	1047	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	313	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGAATGAAGGAAATTGGTTT	0.348000														71			31		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13258985	13258986	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:13258985_13258986GT>AA	uc003wwm.2	-	2	1610_1611	c.1166_1167AC>TT	c.(1165-1167)cac>cTT	p.H389L	DLC1_uc003wwn.3_Missense_Mutation_p.H389L|DLC1_uc011kxy.2_Missense_Mutation_p.H389L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	389					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCACAGGAACGTGCCGCCGCAG	0.490000														36			14		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35812784	35812784	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:35812784G>A	uc003anu.4	+	11	1661	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	MCM5_uc003anv.4_Missense_Mutation_p.E480K|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Missense_Mutation_p.E307K	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	523	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGTCAAGGATGAGCACAATGA	0.572000														15			42		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898146	175898146	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:175898146G>A	uc003iuc.3	+	4	2140	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	ADAM29_uc003iud.3_Silent_p.R490R|ADAM29_uc010irr.3_Silent_p.R490R|ADAM29_uc011cki.2_Silent_p.R490R|ADAM29_uc021xuo.1_Silent_p.R490R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	490	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTAAGGAGAGGGGCTACTGCT	0.453000														84			63		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945296	4945296	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:4945296G>A	uc002cyd.1	-	10	1298	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	403					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCTCCACGGGGATGGGCTT	0.607000														39			8		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048405	104048405	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104048405C>T	uc004bbb.3	+	3	671	c.272C>T	c.(271-273)tCc>tTc	p.S91F	LPPR1_uc011lvi.2_Missense_Mutation_p.S67F|LPPR1_uc004bbc.3_Missense_Mutation_p.S91F|LPPR1_uc010mtc.3_Missense_Mutation_p.S75F	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	91						integral to membrane	catalytic activity										GGTGAGATATCCATGTATTTC	0.373000														54			36		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123247617	123247617	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:123247617C>T	uc021pzz.1	-	13	2521	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	FGFR2_uc021pzv.1_Missense_Mutation_p.R513Q|FGFR2_uc021pzw.1_Missense_Mutation_p.R510Q|FGFR2_uc021pzx.1_Missense_Mutation_p.R536Q|FGFR2_uc021pzy.1_Missense_Mutation_p.R626Q|FGFR2_uc010qtl.2_Missense_Mutation_p.R509Q|FGFR2_uc010qtm.2_Missense_Mutation_p.R508Q|FGFR2_uc021qaa.1_Missense_Mutation_p.R626Q|FGFR2_uc021qab.1_Missense_Mutation_p.R537Q|FGFR2_uc021qac.1_Missense_Mutation_p.R554Q|FGFR2_uc001lfg.4_Missense_Mutation_p.R233Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	625	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGCTAAATCTCGATGAATACA	0.323000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					57			58		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48125114	48125114	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:48125114C>A	uc002efc.1	-	22	3548	c.3202G>T	c.(3202-3204)Gga>Tga	p.G1068*	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1068	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGAGCAGTCCGCTCAGCTGT	0.547000														78			54		8.44121e-28	8.57434e-28	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1263153	1263153	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:1263153C>T	uc002qwq.3	+	12	1146	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SNTG2_uc010ewi.3_Silent_p.F212F	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	339	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAGCACATTCGATTGGGTGC	0.383000														28			16		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271484	17271484	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:17271484G>A	uc001iou.2	+	1	476	c.63G>A	c.(61-63)gcG>gcA	p.A21A	BC078172_uc001iot.1_Non-coding_Transcript	NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	21	Head.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCACCGCGAGCCGGCCGA	0.731000														8			6		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026456	79026456	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79026456C>T	uc003kgc.3	+	1	1940	c.1868C>T	c.(1867-1869)gCt>gTt	p.A623V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	623	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGTAGAAGCTATAGCTGAA	0.458000														92			62		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262017	241262017	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:241262017G>A	uc001hyv.2	-	2	454	c.124C>T	c.(124-126)Cct>Tct	p.P42S	RGS7_uc010pyh.2_Missense_Mutation_p.P16S|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.P42S|RGS7_uc009xgn.1_Missense_Mutation_p.P42S|RGS7_uc001hyw.2_Missense_Mutation_p.P42S	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	42	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTACGAATAGGAATTCCATTT	0.348000														45			20		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159992876	159992876	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:159992876C>T	uc003lym.1	-	25	4817	c.3970G>A	c.(3970-3972)Ggg>Agg	p.G1324R	ATP10B_uc010jit.1_Missense_Mutation_p.G574R	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1324					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGACTTCCCACAAGTTCCT	0.418000														78			47		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890493	100890493	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:100890493G>A	uc004aym.3	-	9	1246	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L	CORO2A_uc004ayl.3_Missense_Mutation_p.P377L|CORO2A_uc004ayk.3_5'Flank	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	377					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CGTCAGGGAGGGCTGGGCCCC	0.592000														103			87		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26594983	26594983	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:26594983C>T	uc001bls.1	+	7	1482	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	CEP85_uc001blr.3_Missense_Mutation_p.R451C|CEP85_uc010ofa.1_Missense_Mutation_p.R400C|CEP85_uc001blt.1_5'Flank	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	451						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGTCAAAGGTCGTGATAAACA	0.473000														57			17		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	189028313	189028313	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:189028313C>T	uc003frv.2	+	9	1845	c.618C>T	c.(616-618)ttC>ttT	p.F206F	TPRG1_uc003frw.2_Silent_p.F206F	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	206										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GTGAGAAATTCCTTGAAATTT	0.458000														66			44		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853724	35853724	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:35853724C>T	uc003zyo.3	+	12	2594	c.1306C>T	c.(1306-1308)Cca>Tca	p.P436S	TMEM8B_uc003zym.3_Missense_Mutation_p.P436S	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	436					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCACGGGGTCCCATCTGGAGC	0.627000														14			33		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54424406	54424406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:54424406G>A	uc003jpo.2	-	6	914	c.737C>T	c.(736-738)gCc>gTc	p.A246V	CDC20B_uc003jpn.2_Missense_Mutation_p.A246V|CDC20B_uc010ivu.2_Missense_Mutation_p.A246V|CDC20B_uc010ivv.2_Missense_Mutation_p.A246V	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	246										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGGGCTATGGCAACAAGATT	0.363000														68			40		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835453	102835453	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:102835453G>A	uc002tbs.3	+	6	891	c.765G>A	c.(763-765)aaG>aaA	p.K255K	IL1RL2_uc002tbt.3_Silent_p.K137K	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	255	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAGACACCAAGGATAATACAA	0.348000														44			30		0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30676391	30676391	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30676391C>T	uc002dzd.4	+	2	302	c.39C>T	c.(37-39)ttC>ttT	p.F13F	FBRS_uc002dzc.4_Intron	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	13										ovary(1)	1			Colorectal(24;0.103)			AAGGCCTTTTCCGACATAAtg	0.557000														12			4		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145161881	145161881	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:145161881G>A	uc003qkt.3	+	71	10275	c.10183G>A	c.(10183-10185)Gag>Aag	p.E3395K		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3395					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CACAGCGGGAGAGGACCTGCT	0.502000														22			27		0	0	1	0	0
C9orf41	138199	broad.mit.edu	37	9	77631222	77631222	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77631222G>A	uc004ajq.3	-	2	705	c.552C>T	c.(550-552)atC>atT	p.I184I	C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	184										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TTTCTTTAATGATTGGCTGGT	0.338000														76			45		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921359	24921359	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:24921359G>A	uc001ywo.3	+	0	819	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	115					cell differentiation|multicellular organismal development|spermatogenesis			p.V114I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTTCCGTAAGGATCCCTCCTC	0.652000														30			29		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14664638	14664638	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:14664638C>T	uc001rcc.1	-	6	1013	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	284					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CCAGAGACTCCAAAAACCCTA	0.368000														29			18		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969086	5969086	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5969086C>T	uc010qzt.2	+	0	510	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACAACTCCGTTATTGTG	0.428000														90			67		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127912702	127912702	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:127912702G>A	uc003qbh.3	+	5	940	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	310						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TCTTTGTACAGAAAAATCTAA	0.274000														20			8		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228600	57228600	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:57228600C>T	uc010lyk.1	-	1	945	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	SDR16C5_uc003xsy.1_Missense_Mutation_p.E103K|SDR16C5_uc010lyl.1_Missense_Mutation_p.E103K	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	103					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TACACTCCTTCCTTTTGGCTG	0.448000														74			41		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91432603	91432603	+	Missense_Mutation	SNP	C	T	T	rs141047785	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:91432603C>T	uc002bpv.3	+	5	855	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	FES_uc010uqj.2_Missense_Mutation_p.R188W|FES_uc010uqk.2_Missense_Mutation_p.R228W|FES_uc002bpx.3_Missense_Mutation_p.R246W|FES_uc002bpy.3_Missense_Mutation_p.R188W|FES_uc010bny.3_Missense_Mutation_p.R188W	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	246	Important for interaction with membranes containing phosphoinositides.		R -> Q (in dbSNP:rs34573430).		axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCCATTCACCGGGAGATGGC	0.632000														42			28		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242253243	242253243	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:242253243C>T	uc001hzn.2	-	10	1751	c.1524G>A	c.(1522-1524)ccG>ccA	p.P508P	PLD5_uc021pll.1_Silent_p.P416P|PLD5_uc001hzl.4_Silent_p.P446P|PLD5_uc001hzm.4_Silent_p.P300P|PLD5_uc001hzo.2_Silent_p.P416P	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	508						integral to membrane	catalytic activity	p.P508P(1)|p.P416P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGAGCAGTTCGGCTGTTTGG	0.453000														217			87		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	621069	621069	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:621069G>A	uc002lpf.1	-	9	2685	c.2629C>T	c.(2629-2631)Caa>Taa	p.Q877*		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	877	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAAGGGTTGGTCCGCGGAG	0.751000														24			14		0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153535902	153535902	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:153535902G>A	uc002tyi.2	-	6	635	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	PRPF40A_uc002tyh.4_Missense_Mutation_p.R181C|PRPF40A_uc010zcd.1_Missense_Mutation_p.R128C|PRPF40A_uc002tyj.2_Missense_Mutation_p.R77C|PRPF40A_uc002tyl.1_Missense_Mutation_p.R208C	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	208	WW 2.				RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTGGCCCAGCGAGATTCTTTT	0.338000														10			9		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156436587	156436587	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:156436587G>A	uc003wmo.3	+	2	245	c.15_splice	c.e2+1	p.K5_splice	RNF32_uc010lql.1_Splice_Site|RNF32_uc010lqm.3_Splice_Site_p.K5_splice|RNF32_uc003wmq.3_Splice_Site_p.K5_splice|RNF32_uc003wmr.3_Splice_Site_p.K5_splice|RNF32_uc003wms.3_Splice_Site_p.K5_splice|RNF32_uc003wmu.3_Splice_Site|RNF32_uc003wmt.3_Splice_Site_p.K5_splice	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	5						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAAAATAAGGTACGCTATTC	0.338000														59			31		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954501	70954501	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70954501C>T	uc002ezr.3	-	45	7926	c.7775G>A	c.(7774-7776)gGa>gAa	p.G2592E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2593										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACCTGCTCTCCTTTGGGAAG	0.567000														16			11		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124613	106124613	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:106124613G>A	uc001kyh.3	+	3	697	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	188										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACAGAGCGATCAAAAGAG	0.473000														37			18		0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55562320	55562320	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:55562320G>A	uc002eie.4	+	2	524	c.343G>A	c.(343-345)Ggt>Agt	p.G115S		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	115					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GAAATTTCTGGGTCGTGCTAT	0.353000														41			28		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592900	101592900	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:101592900A>G	uc003knm.3	-	7	1675	c.1388T>C	c.(1387-1389)gTt>gCt	p.V463A		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	463					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CGTAAGTGCAACTCCAGATGT	0.378000														35			28		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806142	26806142	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:26806142C>T	uc001zbb.3	-	8	1288	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	GABRB3_uc021sgg.1_Silent_p.Q268Q|GABRB3_uc021sgh.1_Silent_p.Q254Q|GABRB3_uc001zaz.3_Silent_p.Q339Q|GABRB3_uc001zba.3_Silent_p.Q339Q	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	339					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGCTTCTTCTGCCTTTGAG	0.507000														101			64		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417904	17417904	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:17417904C>T	uc011kye.2	+	8	1534	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	SLC7A2_uc011kyc.2_Missense_Mutation_p.P456S|SLC7A2_uc011kyd.2_Missense_Mutation_p.P495S	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	456					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGATCGTCTCCCAGGGTAAC	0.517000														43			35		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926911	23926911	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:23926911C>T	uc002nrk.4	-	3	1583	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ZNF681_uc002nrl.4_Missense_Mutation_p.E412K|ZNF681_uc002nrj.4_Missense_Mutation_p.E412K	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCACATTCTTCACATTTGTAG	0.373000														55			40		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013262	5013262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5013262C>T	uc001lzv.3	+	4	682	c.664C>T	c.(664-666)Cag>Tag	p.Q222*		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	222					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCTGGGAATCAGAGCTCCAT	0.423000														30			21		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371155	48371155	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:48371155C>T	uc001jex.3	+	1	785	c.623C>T	c.(622-624)tCa>tTa	p.S208L	ZNF488_uc021ppx.1_Missense_Mutation_p.S208L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GGTCGACTTTCAACTCCCAAG	0.537000														64			35		0	0	1	0	0
CDIPT	10423	broad.mit.edu	37	16	29872497	29872497	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:29872497G>A	uc002duk.3	-	0	486	c.334C>T	c.(334-336)Cct>Tct	p.P112S	BOLA2_uc010bzb.1_Intron|CDIPT_uc002dul.3_Missense_Mutation_p.P60S|CDIPT_uc002dum.3_Missense_Mutation_p.P88S|CDIPT_uc002dun.3_Missense_Mutation_p.P43S|LOC440356_uc010veb.1_5'Flank|LOC440356_uc002duo.2_5'Flank	NM_006319	NP_006310	O14735	CDIPT_HUMAN	Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), mRNA.	88						Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						GTGGCTCCAGGGTACAGCAGG	0.607000														26			14		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806713	14806713	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:14806713C>T	uc003zlm.3	-	18	4036	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1074					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTATATTTTCGAGGTAGCCA	0.428000														1			7		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33272092	33272092	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:33272092G>A	uc001bvy.1	-	3	1289	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	167					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCTGCAGTCCGGGGTATAAGA	0.527000														176			86		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316928	19316928	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:19316928C>T	uc010vyw.2	+	5	990	c.759C>T	c.(757-759)agC>agT	p.S253S	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Silent_p.S136S	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	253							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						ATGCCATGAGCCCTGAGCTGA	0.607000														14			4		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918835	43918835	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:43918835C>T	uc001uza.4	-	8	1175	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	ENOX1_uc001uzc.4_Missense_Mutation_p.R292Q|ENOX1_uc001uzb.4_Missense_Mutation_p.R292Q|ENOX1_uc010tfm.1_Missense_Mutation_p.R105Q	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	292					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CACTTCCCCTCGTTCAATCCA	0.478000														56			23		0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	312218	312218	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:312218C>T	uc002cgf.3	+	6	1030	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Non-coding_Transcript|ITFG3_uc002cgg.2_Missense_Mutation_p.P279S|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Missense_Mutation_p.P279S	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	279						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CATCCTCTTTCCCTGCGGTAC	0.617000														10			33		0	0	1	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75557692	75557692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:75557692G>A	uc002azs.2	+	8	727	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	DQ588973_uc002azt.2_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	229										ovary(1)	1						CAGCTAGAGCGGGACGAATAT	0.547000														144			9		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002100	176002100	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176002100G>A	uc021yie.1	+	7	785	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	CDHR2_uc003mem.2_Missense_Mutation_p.G171R|CDHR2_uc003men.1_Missense_Mutation_p.G171R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	171	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCCTAGCACTGGGGACAGCGA	0.602000														37			30		0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7165326	7165326	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:7165326A>T	uc003zkh.3	+	19	3450	c.2870A>T	c.(2869-2871)tAt>tTt	p.Y957F	KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.Y957F|KDM4C_uc011lmk.2_Missense_Mutation_p.Y702F|KDM4C_uc011lml.2_Missense_Mutation_p.Y644F	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	957	Tudor 2.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GGAGCAAAATATTTTGGATCA	0.463000														12			34		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396928	197396928	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197396928G>A	uc001gtz.3	+	6	2682	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	CRB1_uc010poz.2_Missense_Mutation_p.E756K|CRB1_uc009wza.3_Missense_Mutation_p.E713K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.E306K|CRB1_uc001gub.1_Missense_Mutation_p.E474K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	825	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I824M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGGAAAATCGAAAAGGGAGA	0.368000														38			64		0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148948	25148948	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:25148948C>T	uc001rgf.3	-	2	405	c.200G>A	c.(199-201)gGg>gAg	p.G67E		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	67										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						CTGCACGTTCCCTTGTTTGCT	0.458000														36			15		0	0	1	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204408	103204408	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:103204408C>T	uc004bay.2	+	0	221	c.188C>T	c.(187-189)tCc>tTc	p.S63F	MSANTD3-TMEFF1_uc022bkz.1_Missense_Mutation_p.S63F|MSANTD3-TMEFF1_uc004baw.3_Missense_Mutation_p.S63F|MSANTD3-TMEFF1_uc022bla.1_Missense_Mutation_p.S63F|MSANTD3-TMEFF1_uc022blb.1_Missense_Mutation_p.S63F|MSANTD3-TMEFF1_uc004bax.3_Non-coding_Transcript	NM_001198812	NP_001185741	Q8IYR6	TEFF1_HUMAN	Homo sapiens C9orf30-TMEFF1 readthrough (C9orf30-TMEFF1), mRNA.	0					multicellular organismal development	integral to membrane|plasma membrane											CCCAGCGTGTCCCTGCGGGAT	0.507000														24			20		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111368561	111368561	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111368561C>T	uc003dxw.3	+	14	1836	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	CD96_uc003dxx.3_Missense_Mutation_p.P540S|CD96_uc010hpy.1_Missense_Mutation_p.P539S	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	556	Pro-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AAGACCTCCACCTTTCAAGCC	0.438000									Opitz Trigonocephaly syndrome					66			49		0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10863043	10863043	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:10863043A>C	uc002ras.3	+	1	177	c.68A>C	c.(67-69)aAt>aCt	p.N23T	ATP6V1C2_uc002rat.3_Missense_Mutation_p.N23T	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GAGAGGATGAATACTGTAACC	0.443000														56			13		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325932	152325932	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152325932C>T	uc001ezw.4	-	2	4403	c.4330G>A	c.(4330-4332)Gaa>Aaa	p.E1444K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1444							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)			TGAGTTTGTTCTTGTGATTGT	0.522000														257			376		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152331356	152331356	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152331356G>A	uc001ezw.4	-	1	78	c.5C>T	c.(4-6)aCc>aTc	p.T2I	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2	S-100-like (By similarity).						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)			CAAGAGGTCGGTCATCTTTTT	0.368000														40			64		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887034	55887034	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55887034G>A	uc010spo.2	+	0	888	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATACTCTTAGGAATGAGCAAG	0.303000														49			22		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551092	248551092	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248551092C>T	uc001iei.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATGTACTTCCTCCTCAGCC	0.488000														49			74		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564590	66564590	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:66564590G>A	uc002lkk.2	+	7	1411	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	CCDC102B_uc002lki.2_Silent_p.K396K|CCDC102B_uc002lkj.1_Silent_p.K396K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	396								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TTTTGGATAAGAAAAATAGAT	0.393000														186			78		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927766	55927766	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55927766T>C	uc010rja.2	-	0	28	c.28A>G	c.(28-30)Act>Gct	p.T10A		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGAATTCAGTTAGCACTGTT	0.433000														68			51		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178575	140178575	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:140178575G>A	uc003etn.3	+	6	1376	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	CLSTN2_uc003etm.2_Missense_Mutation_p.E396K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	396					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGTGAGAGCCGAGAAGGAAAC	0.577000										HNSCC(16;0.037)				47			26		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18242762	18242762	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:18242762C>T	uc002nhz.4	+	13	1389	c.1389C>T	c.(1387-1389)ccC>ccT	p.P463P		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	463	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCGCTGCCCGTGGACATGG	0.667000														8			9		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074738	185074738	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:185074738G>A	uc003iwc.3	-	1	532	c.390C>T	c.(388-390)gcC>gcT	p.A130A		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	130					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CCTTCCTTTTGGCCTTGGTCA	0.483000														30			19		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29104445	29104445	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29104445G>A	uc002kwu.4	+	6	913	c.725G>A	c.(724-726)aGa>aAa	p.R242K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	242	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTAGAAGCAAGAGATGGCAAT	0.393000														31			62		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569893	130569893	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:130569893C>T	uc004bsg.1	+	7	720	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	FPGS_uc004bsh.1_Missense_Mutation_p.L41F|FPGS_uc011mal.1_Missense_Mutation_p.L198F|FPGS_uc004bsi.1_Missense_Mutation_p.L174F	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	224					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	AGTCTCCTCTCTTGGCATCGA	0.627000														30			16		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113572	55113572	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55113572G>A	uc003pcl.3	+	1	674	c.359G>A	c.(358-360)tGg>tAg	p.W120*	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Nonsense_Mutation_p.W55*	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTGAGACCTGGTTTTTTGGA	0.423000														218			88		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:162751222C>T	uc002ubx.4	+	10	1412	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	SLC4A10_uc010fpa.1_Missense_Mutation_p.R422C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R391C|SLC4A10_uc002uby.4_Missense_Mutation_p.R380C	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	410					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R380C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTAAAGATCGTAATGACTT	0.328000														18			21		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703966	113703966	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:113703966G>A	uc011lwo.2	-	1	533	c.531C>T	c.(529-531)atC>atT	p.I177I	LPAR1_uc004bfa.3_Silent_p.I176I|LPAR1_uc011lwm.2_Silent_p.I177I|LPAR1_uc004bfc.3_Silent_p.I176I|LPAR1_uc011lwn.2_Silent_p.I158I|LPAR1_uc004bfb.3_Silent_p.I176I|LPAR1_uc010mub.3_Silent_p.I176I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	176					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.V177I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CACCCATAACGATGGCCATAG	0.498000														74			41		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3230735	3230735	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:3230735C>T	uc021xkv.1	+	59	8254	c.8109_splice	c.e59+1	p.S2703_splice		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2703					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGTCAGATCCGTAAGTGAG	0.597000														25			18		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568044	108568044	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:108568044G>A	uc003dxi.1	+	4	390	c.246G>A	c.(244-246)atG>atA	p.M82I	TRAT1_uc010hpx.1_Missense_Mutation_p.M45I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	82	Interaction with PIK3R1.				T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATGAACAAATGAAAGCCCGAC	0.343000														34			22		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089704	43089704	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:43089704G>A	uc003bdb.3	-	2	515	c.254C>T	c.(253-255)tCa>tTa	p.S85L	A4GALT_uc021wqo.1_Missense_Mutation_p.S85L|A4GALT_uc021wqp.1_Missense_Mutation_p.S85L|A4GALT_uc010gzd.3_Missense_Mutation_p.S85L|A4GALT_uc021wqq.1_Missense_Mutation_p.S85L	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	85					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGTCCGGTCTGAAGTCTCCAG	0.617000														18			42		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436295	5436295	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5436295G>A	uc002gci.3	-	10	3698	c.3143C>T	c.(3142-3144)tCc>tTc	p.S1048F	NLRP1_uc002gcg.1_Missense_Mutation_p.S1052F|NLRP1_uc002gch.4_Missense_Mutation_p.S1048F|NLRP1_uc002gck.3_Missense_Mutation_p.S1048F|NLRP1_uc002gcj.3_Missense_Mutation_p.S1018F|NLRP1_uc002gcl.3_Missense_Mutation_p.S1018F|NLRP1_uc010clh.3_Missense_Mutation_p.S1048F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1048					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCTCTGGGGAGCTTTCCTC	0.607000														37			9		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398141	111398141	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:111398141G>A	uc003iab.4	+	0	913	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	191					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCTGACCATGGAGTTCGCCGG	0.522000														67			56		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008305	16008305	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:16008305G>C	uc002nbs.1	-	1	167	c.117C>G	c.(115-117)taC>taG	p.Y39*	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	39					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATAGAAGGCGTAGGTCCAGG	0.642000														45			15		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554538	11554538	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:11554538G>A	uc002gne.3	+	12	2318	c.2250G>A	c.(2248-2250)atG>atA	p.M750I	DNAH9_uc010coo.3_Missense_Mutation_p.M44I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	750	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)		ACAAGGTTATGAAAACTCTGC	0.463000														48			44		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632828	169632828	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:169632828C>T	uc011cjx.2	+	9	1929	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	PALLD_uc003iru.3_Missense_Mutation_p.S573F|PALLD_uc003irv.3_Missense_Mutation_p.S191F	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	573					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGACAAGTTCCTTGGAGTTG	0.478000									Pancreatic Cancer, Familial Clustering of					42			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140723999	140723999	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140723999C>T	uc003ljm.2	+	0	399	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.F133F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	133	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTAATTTCCCAACAGAGG	0.338000														33			27		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227506	38227506	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:38227506G>A	uc009vvi.3	-	2	507	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	EPHA10_uc001cbw.4_Missense_Mutation_p.R141C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	141						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCGGGGACGCCCACGGCCC	0.657000														78			37		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48249190	48249190	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:48249190G>A	uc002eff.1	-	6	1367	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	ABCC11_uc002efg.1_Silent_p.I339I|ABCC11_uc002efh.1_Silent_p.I339I|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	339	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R338H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGGTCACACGGATGCGCTGGT	0.438000														53			41		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48142399	48142399	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:48142399C>T	uc002efc.1	-	16	2669	c.2323G>A	c.(2323-2325)Gga>Aga	p.G775R	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	775						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTCACGGTTCCTTCCTGGGGG	0.473000														24			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347758	140347758	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140347758C>T	uc003lii.3	+	0	2012	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.F469F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	469	Cadherin 4.				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)			CACCAAGCTTCCTGGAGGACT	0.498000														136			79		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313775	57313775	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:57313775G>A	uc021qjh.1	+	4	1145	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	381										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GTGGTGTCAAGAACATGCTCT	0.632000														11			3		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575298	136575298	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:136575298G>A	uc002tuu.1	-	5	1331	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	440	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAAGCAGGGCGACGTCAGAGG	0.657000														52			44		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35614625	35614625	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:35614625G>A	uc002hnm.3	-	14	1906	c.1715_splice	c.e14+1	p.S572_splice	ACACA_uc002hnk.3_Splice_Site_p.S494_splice|ACACA_uc002hnl.3_Splice_Site_p.S514_splice|ACACA_uc002hnn.3_Splice_Site_p.S572_splice|ACACA_uc002hno.3_Splice_Site_p.S609_splice|ACACA_uc010cuz.3_Splice_Site_p.S572_splice	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	572	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	ATP binding|acetyl-CoA carboxylase activity|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)	TTATACTCACGAAATTGCCTC	0.388000														29			26		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709187	176709187	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176709187C>T	uc001gkz.3	+	13	5170	c.4006C>T	c.(4006-4008)Cac>Tac	p.H1336Y	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1336					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTCCTTTTCCACCATACCAC	0.488000														81			101		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:94069764C>T	uc001ybv.1	+	23	3306	c.3223_splice	c.e23+1	p.P1075_splice	UNC79_uc001ybs.1_Splice_Site_p.R1075_splice	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1252						integral to membrane		p.P1252S(1)|p.R1075*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAAAATTCGTTGAGTATC	0.473000														3			18		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159276024	159276024	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159276024C>T	uc001ftq.3	+	4	675	c.578C>T	c.(577-579)aCt>aTt	p.T193I		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	193	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTCAACATTACTGTAATAAAA	0.468000														63			30		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:71318539C>T	uc001dfk.1	-	3	1339	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.E361K	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000														180			72		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221502	140221502	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140221502C>T	uc003lhs.2	+	0	596	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.S199F	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	214	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)			TTAAGAAAATCCTTGGACAGA	0.478000														47			37		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:348139C>T	uc003msx.3	+	5	739	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_uc011dhn.1_Silent_p.I100I|DUSP22_uc003msy.1_Silent_p.I57I	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607000														131			40		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002428	176002428	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176002428G>A	uc021yie.1	+	9	1042	c.768_splice	c.e9+1	p.K256_splice	CDHR2_uc003mem.2_Splice_Site_p.K256_splice|CDHR2_uc003men.1_Splice_Site_p.K256_splice	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	256	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGCAGCCAAGGTGCACGGGGG	0.637000														42			22		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	555069	555070	+	Silent	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:555069_555070GG>AA	uc001lpx.3	-	13	1878_1879	c.1815_1816CC>TT	c.(1813-1818)gccctg>gcTTtg	p.605_606AL>AL	AX748330_uc001lpy.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	605										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCACCGACAGGGCCACCAGGG	0.752000														7			4		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64067393	64067393	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:64067393G>A	uc002amp.3	-	1	578	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	HERC1_uc010uil.1_Missense_Mutation_p.H144Y|HERC1_uc010bgt.1_Missense_Mutation_p.H144Y|HERC1_uc002amq.1_Missense_Mutation_p.H144Y	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	144					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTAACAGAATGGACATCTGCT	0.448000														121			91		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156884534	156884534	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156884534G>A	uc001fqj.1	+	22	3174	c.3058G>A	c.(3058-3060)Gac>Aac	p.D1020N	PEAR1_uc001fqk.1_Missense_Mutation_p.D645N	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	1020	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGACATTATGACTTGCCTCC	0.627000														84			38		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49070620	49070620	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:49070620C>T	uc010hkq.3	-	7	2124	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	QRICH1_uc003cvu.3_Missense_Mutation_p.E610K|QRICH1_uc003cvv.3_Missense_Mutation_p.E610K	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	610										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCTTGCACTCCCATAGCATC	0.522000														34			39		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374523	240374523	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:240374523G>A	uc010pye.2	+	6	4290	c.4065G>A	c.(4063-4065)acG>acA	p.T1355T	FMN2_uc010pyd.2_Silent_p.T1351T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1351	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTCAAAGACGAAGGCTAAAC	0.338000														99			32		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60866818	60866818	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:60866818C>T	uc002yck.1	+	12	1511	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	OSBPL2_uc002ycl.1_Missense_Mutation_p.R425W|OSBPL2_uc011aah.1_Silent_p.S303S	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	437					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ACGGAGGGAGCGGGCCAAGGA	0.632000														37			22		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053443	11053443	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:11053443C>T	uc002rax.3	+	0	1381	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	297						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCATGCGCATCGCGCGCATCT	0.647000														12			14		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58292111	58292112	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:58292111_58292112GG>AA	uc002iyo.1	-	16	2177_2178	c.1891_1892CC>TT	c.(1891-1893)cct>TTt	p.P631F	USP32_uc002iyn.1_Missense_Mutation_p.P301F	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	631					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)			CCGCTTTAAAGGTGCATTCGGA	0.421000														66			9		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623783	48623783	+	Missense_Mutation	SNP	G	A	A	rs142991861		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:48623783G>A	uc003ctz.2	-	25	3533	c.3532C>T	c.(3532-3534)Cgt>Tgt	p.R1178C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1178	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGGCCTCACGGATGGGGCTG	0.592000														151			126		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23721859	23721859	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:23721859C>T	uc002dma.4	-	2	524	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	ERN2_uc010bxp.3_Missense_Mutation_p.E119K|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	71					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ATTGGTCCTTCGATGACGGGA	0.502000														126			90		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31759511	31759511	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:31759511G>A	uc003nxe.3	-	7	1399	c.976C>T	c.(976-978)Cct>Tct	p.P326S	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	326					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GACACATTAGGACGCTGATGG	0.592000														79			32		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514004	158514004	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:158514004A>G	uc003qqx.2	+	25	3718	c.3612A>G	c.(3610-3612)gaA>gaG	p.E1204E	SYNJ2_uc003qqw.2_Silent_p.E1204E|SYNJ2_uc003qqy.2_Silent_p.E967E|SYNJ2_uc003qqz.2_Silent_p.E821E|SYNJ2_uc003qra.2_Silent_p.E547E	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1204							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGGACCTTGAAGCATCCTCTG	0.597000														50			30		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368760	22368760	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22368760T>C	uc010tzu.2	+	0	283	c.185T>C	c.(184-186)cTg>cCg	p.L62P	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L62M(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGTATTTCCTGTTGGCTAAT	0.388000														309			137		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090893	184090893	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:184090893C>T	uc003fol.1	-	5	685	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	THPO_uc003fom.2_Missense_Mutation_p.R153Q|THPO_uc021xii.1_Silent_p.P151P|THPO_uc003fon.3_Missense_Mutation_p.R157Q|THPO_uc011bro.2_Missense_Mutation_p.R153Q|THPO_uc003fop.3_Missense_Mutation_p.R153Q|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Missense_Mutation_p.R157Q|THPO_uc003for.1_Intron|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_3'UTR	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	157					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCTTTCCTCGGAGCAGGTG	0.612000														42			31		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220117	51220117	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:51220117G>A	uc002psx.1	-	0	79	c.60C>T	c.(58-60)ccC>ccT	p.P20P		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	20					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCCCCCCTCGGGACACTCGC	0.731000														2			5		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679689	79679689	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:79679689G>A	uc001sys.3	+	5	960	c.289G>A	c.(289-291)Gga>Aga	p.G97R	SYT1_uc001syt.3_Missense_Mutation_p.G97R|SYT1_uc001syu.3_Missense_Mutation_p.G97R|SYT1_uc001syv.3_Missense_Mutation_p.G97R	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	97					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.G97fs*8(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAAGGAAAAAGGAGGGAAGAA	0.343000														36			26		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1732988	1732988	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:1732988C>T	uc003gdo.3	+	5	1706	c.1551C>T	c.(1549-1551)gcC>gcT	p.A517A	TACC3_uc010ibz.3_Silent_p.A517A|TACC3_uc003gdp.3_Silent_p.A157A	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	517						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGCAGCCTGCCTTGGAGCTGA	0.617000														67			41		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63720615	63720615	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:63720615G>A	uc003tsx.3	+	2	325	c.56G>A	c.(55-57)aGa>aAa	p.R19K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TTGACATTCAGAGATGTAGTC	0.388000														52			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106899228	106899228	+	RNA	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:106899228C>A	uc021ser.1	-	374		c.12400G>T								Parts of antibodies, mostly variable regions.																		CTGGCGGACCCAGCTCATGCC	0.572000														15			64		5.10508e-28	5.18755e-28	1	1	0
MUC16	94025	broad.mit.edu	37	19	8976789	8976789	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8976789C>T	uc002mkp.3	-	72	42481	c.42277G>A	c.(42277-42279)Ggc>Agc	p.G14093S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G893S|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14124				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCCTTGCCCATATCTGGT	0.567000														23			11		0	0	1	0	0
TAC3	6866	broad.mit.edu	37	12	57407167	57407167	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57407167T>C	uc001smp.3	-	3	393	c.214A>G	c.(214-216)Aag>Gag	p.K72E	TAC3_uc001smt.3_Non-coding_Transcript|TAC3_uc001smu.3_Non-coding_Transcript|TAC3_uc001smv.3_Non-coding_Transcript|TAC3_uc010sqy.2_Non-coding_Transcript|TAC3_uc001smo.3_Missense_Mutation_p.K72E|TAC3_uc001smq.3_Non-coding_Transcript|TAC3_uc001smr.3_Non-coding_Transcript|TAC3_uc001sms.3_Non-coding_Transcript	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	Homo sapiens tachykinin 3 (TAC3), transcript variant 1, mRNA.	72					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTTGATTCCTTAGGATCTGTG	0.507000														30			31		0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115567111	115567111	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:115567111C>T	uc004bgj.4	+	1	360	c.212C>T	c.(211-213)tCa>tTa	p.S71L		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	71					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCAGCTTCTTCATCTTCCCTT	0.398000														120			34		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377522	61377522	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61377522C>T	uc002ljk.4	+	1	266	c.95C>T	c.(94-96)tCg>tTg	p.S32L	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Missense_Mutation_p.S32L	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	32					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TTCTTTTCTTCGCTGAGTCTG	0.428000														30			39		0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165793870	165793870	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:165793870C>T	uc002ucw.2	-	5	770	c.439G>A	c.(439-441)Ggt>Agt	p.G147S	SLC38A11_uc002ucu.2_Missense_Mutation_p.G125S|SLC38A11_uc002ucv.2_Missense_Mutation_p.G147S	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	147					amino acid transport|sodium ion transport	integral to membrane		p.G147W(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATGTGTGGACCCAGTGAAATT	0.358000														55			33		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94152932	94152932	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:94152932G>A	uc001ybv.1	+	41	6569	c.6486G>A	c.(6484-6486)gcG>gcA	p.A2162A	UNC79_uc001ybs.1_Silent_p.A2140A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2317						integral to membrane		p.A2339A(1)|p.A2140A(1)|p.K2161N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACTGCAGCGATGGAGTGTG	0.507000														6			21		0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227361	28227361	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:28227361C>T	uc003nkt.3	+	0	264	c.212C>T	c.(211-213)tCg>tTg	p.S71L	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	71										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCTCTGGGTCGCGAGGGCGG	0.607000														89			35		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621293	69621293	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:69621293G>A	uc010lyz.3	+	8	1597	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	C8orf34_uc003xyb.3_Missense_Mutation_p.E325K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	350					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTCCAGATGAAAAAATCCC	0.328000														20			11		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45393034	45393034	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:45393034G>A	uc001zun.3	-	22	3127	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	DUOX2_uc010bea.3_Missense_Mutation_p.S975F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	975	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGGGGTGGGAGCTGAGAAA	0.597000														38			28		0	0	1	0	0
LOC650623	650623	broad.mit.edu	37	10	81443027	81443027	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:81443027G>A	uc010qlu.2	+	0		c.297G>A								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		GGCCAGGCAAGGAGGAGCCCC	0.622000														22			14		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627369	30627369	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30627369C>T	uc003nqz.3	-	11	2099	c.1887G>A	c.(1885-1887)caG>caA	p.Q629Q	DHX16_uc003nqy.3_Silent_p.Q148Q|DHX16_uc011dmo.2_Silent_p.Q569Q	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	629	Helicase C-terminal.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGCAGCGATCCTGGAGCATCT	0.612000														19			30		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9067391	9067391	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:9067391G>A	uc009vmo.1	-	9	1170	c.1170C>T	c.(1168-1170)atC>atT	p.I390I		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	390						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AATGTCCCGCGATGTAGGCAA	0.637000														9			18		0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77728004	77728004	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:77728004G>A	uc001oyw.4	-	1	428	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	135						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AACTGCTTCCGAGACACCTGC	0.557000														50			24		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25222160	25222160	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:25222160G>A	uc021sgb.1	+	4	1455	c.413G>A	c.(412-414)gGg>gAg	p.G138E	SNRPN_uc001ywp.1_Missense_Mutation_p.G135E|SNRPN_uc001ywq.1_Missense_Mutation_p.G135E|SNRPN_uc001ywr.1_Missense_Mutation_p.G135E|SNRPN_uc001yws.1_Missense_Mutation_p.G135E|SNRPN_uc001ywt.1_Missense_Mutation_p.G135E|SNRPN_uc001ywy.1_Missense_Mutation_p.G135E|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.G135E	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	135					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.P137L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CGAGGAGTTGGGGGACCATCC	0.562000									Prader-Willi syndrome					33			13		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107018	121107018	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:121107018C>T	uc002tmn.2	+	1	838	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	264					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TGCCGGTGTTCGTGGACCCAG	0.667000														54			35		0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115402	107115402	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:107115402A>G	uc003vef.3	+	2	2243	c.897A>G	c.(895-897)aaA>aaG	p.K299K	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Silent_p.K299K	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	299						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GAGCTGTGAAACGACACCGTG	0.413000														61			40		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774065	35774065	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35774065G>A	uc003jjo.3	+	27	4131	c.4020G>A	c.(4018-4020)agG>agA	p.R1340R	SPEF2_uc003jjp.1_Silent_p.R826R|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1340					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATCAAAAGGAAAAATGAAC	0.388000														42			27		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958182	40958182	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:40958182G>A	uc003jmh.3	+	10	1422	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	436	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGCCTCTGTGAAAAAACTAT	0.408000														31			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425838	179425838	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179425838C>T	uc021vsy.1	-	274	77542	c.77317G>A	c.(77317-77319)Gaa>Aaa	p.E25773K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19468K|TTN_uc021vta.1_Missense_Mutation_p.E19401K|TTN_uc021vtb.1_Missense_Mutation_p.E19276K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26700	Fibronectin type-III 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGTGGATTCAGATGGCTCA	0.413000														79			53		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637084	129637084	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:129637084G>A	uc021zfb.1	+	25	4018	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	LAMA2_uc003qbn.3_Missense_Mutation_p.E1305K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1305K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1305	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATGAAATTGAAATGACAGA	0.398000														93			47		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006575	186006576	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:186006575_186006576GG>AA	uc003fqa.3	-	5	1004_1005	c.467_468CC>TT	c.(466-468)tcc>tTT	p.S156F	DGKG_uc003fqb.3_Missense_Mutation_p.S156F|DGKG_uc003fqc.3_Missense_Mutation_p.S156F|DGKG_uc011brx.2_Missense_Mutation_p.S156F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	156	Poly-Ser.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATACCACTGGGGATTCCGAGCT	0.574000														140			26		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48691161	48691161	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:48691161G>A	uc003xqi.3	-	83	11766	c.11709C>T	c.(11707-11709)ttC>ttT	p.F3903F	PRKDC_uc003xqj.3_Silent_p.F3872F	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3904	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGAGCTGGCGAAGTGGGAGC	0.577000								Non-homologous end-joining						15			8		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145522608	145522608	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:145522608G>A	uc003lnx.1	-	19	2155	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	LARS_uc011dbq.1_Silent_p.F593F|LARS_uc011dbr.1_Silent_p.F585F|LARS_uc011dbs.1_Silent_p.F612F	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	639					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCTCCTTGAAGAAAACATAAT	0.328000														42			26		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21332267	21332267	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:21332267C>T	uc002ztj.2	+	15	1668	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	LZTR1_uc002ztk.2_Missense_Mutation_p.P484S|LZTR1_uc002ztl.2_Missense_Mutation_p.P490S|LZTR1_uc011ahx.1_Missense_Mutation_p.P472S|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.K484K(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGTGAACATTCCACATTGGCA	0.582000														10			18		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58124041	58124041	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:58124041G>A	uc003djj.2	+	28	5059	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	FLNB_uc010hne.2_Missense_Mutation_p.E1663K|FLNB_uc003djk.2_Missense_Mutation_p.E1632K|FLNB_uc010hnf.2_Missense_Mutation_p.E1632K|FLNB_uc003djl.2_Missense_Mutation_p.E1463K|FLNB_uc003djm.2_Missense_Mutation_p.E1463K	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1632					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAAACTGGCGAAGAAGTAGG	0.537000														55			45		0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74071051	74071051	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:74071051C>T	uc002jqm.1	+	0	160	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	Homo sapiens galanin receptor 2 (GALR2), mRNA.	29					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCATCGTGCCCCTGCTCTTCG	0.726000														9			11		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502711	94502711	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94502711G>A	uc001dqh.3	-	24	3907	c.3803C>T	c.(3802-3804)cCc>cTc	p.P1268L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1268					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCTTCCAGGGGAGTGTCAGA	0.448000														109			44		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240279	3240279	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:3240279C>T	uc004crg.4	-	4	3604	c.3447G>A	c.(3445-3447)agG>agA	p.R1149R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1149						extracellular region		p.R1148*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTTGGGTCTCCTTCGAGAAG	0.517000														12			55		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57409465	57409465	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:57409465T>C	uc001cyp.3	-	7	1205	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	C8B_uc010oon.2_Missense_Mutation_p.K318E|C8B_uc010ooo.2_Missense_Mutation_p.K328E	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	380	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AAATCATTTTTGGCACAGGCA	0.403000														95			37		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41580682	41580682	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:41580682G>A	uc003xok.3	-	8	954	c.870C>T	c.(868-870)atC>atT	p.I290I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.I290I|ANK1_uc003xoj.3_Silent_p.I290I|ANK1_uc003xol.3_Silent_p.I290I|ANK1_uc003xom.3_Silent_p.I323I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	290	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.E289Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTCCAGCAGGATCTCTGAGA	0.517000														49			27		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121239517	121239517	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:121239517A>C	uc003yox.3	+	16	2328	c.2063A>C	c.(2062-2064)gAg>gCg	p.E688A	COL14A1_uc003yoy.3_Missense_Mutation_p.E366A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	688	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCGGTACGGAGTATGAAGTT	0.473000														34			18		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28736037	28736037	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28736037G>A	uc002kwn.3	-	3	702	c.440C>T	c.(439-441)tCg>tTg	p.S147L	DSC1_uc002kwm.3_Missense_Mutation_p.S147L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	147	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.S147S(1)		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)			TGGACCCAACGAGTTCTCCAT	0.393000														46			75		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480108	73480108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:73480108G>A	uc003xzb.3	+	1	727	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	47					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTCAACCACGAAGTCCTGTG	0.567000														56			48		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87749214	87749214	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:87749214G>A	uc003hqd.2	-	3	841	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	231						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAGGAAAGATGAAACTGATGG	0.473000														29			32		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963835	57963835	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57963835G>A	uc001sor.1	+	11	1391	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	KIF5A_uc010srr.1_Missense_Mutation_p.E306K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	395					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAGCTCTGTGAGGAGACCCC	0.602000														18			12		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541205	55541205	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55541205G>A	uc010ril.2	+	0	292	c.292G>A	c.(292-294)Ggt>Agt	p.G98S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCTTTCTCTGGTTGCATCAT	0.408000														108			91		0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97368118	97368118	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:97368118G>A	uc010fia.3	+	45	5343	c.5343G>A	c.(5341-5343)acG>acA	p.T1781T	FER1L5_uc002sws.4_Silent_p.T490T|FER1L5_uc010yus.2_Silent_p.T489T	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1781	C2 6.					integral to membrane		p.T1781T(2)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAGAGAAGACGAGCGACATCT	0.547000														11			8		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187151	98187151	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:98187151G>A	uc001drv.3	-	4	535	c.398C>T	c.(397-399)tCt>tTt	p.S133F	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.S133F	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	133					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACAAAGATCAGAGGTTGGACA	0.373000														128			46		0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648631	57648631	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57648631G>A	uc009zpm.1	-	21	2891	c.2856C>T	c.(2854-2856)tcC>tcT	p.S952S	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.S647S|R3HDM2_uc001snr.2_Silent_p.S679S|R3HDM2_uc001sns.2_Silent_p.S952S|R3HDM2_uc001snt.2_Silent_p.S966S	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	952						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCGACTCACGGAGTTGTTGA	0.557000														48			31		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533301	47533301	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:47533301C>T	uc001cqu.1	+	0	142	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	47						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCACCTGTTTCCTGCACCCCC	0.488000														26			45		0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53747701	53747701	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:53747701C>T	uc003pcd.1	+	3	894	c.373C>T	c.(373-375)Cct>Tct	p.P125S		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	125						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGAAAGCTTTCCTGAATTACA	0.303000														37			10		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151172	170151172	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:170151172T>C	uc002ues.3	-	4	689	c.476A>G	c.(475-477)aAc>aGc	p.N159S	LRP2_uc010zdf.1_Missense_Mutation_p.N159S	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	159	LDL-receptor class A 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGACTGGTGTTATAGCAGGC	0.378000														29			20		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861881	25861881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:25861881C>T	uc003nfk.4	-	4	706	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	SLC17A3_uc003nfi.4_Missense_Mutation_p.R121Q|SLC17A3_uc011djz.1_Missense_Mutation_p.R199Q|SLC17A3_uc011dka.1_Missense_Mutation_p.R121Q	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	121					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GAGTCTGCTTCGTTCTTGTGG	0.428000														90			30		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639925	3639925	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3639925G>A	uc002cvp.2	-	11	4341	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1238	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGTCACAGAACAGCCAGG	0.667000								Direct reversal of damage						48			26		0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845049	248845049	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248845049A>G	uc001ieu.1	-	0	557	c.557T>C	c.(556-558)gTt>gCt	p.V186A		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CTCACAGGAAACCAGGGCCAA	0.493000														62			24		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526787	84526787	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:84526787G>A	uc004eeq.3	+	9	3263	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	ZNF711_uc004eep.3_Missense_Mutation_p.E747K|ZNF711_uc004eeo.3_Missense_Mutation_p.E747K|ZNF711_uc011mqy.1_Missense_Mutation_p.E346K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	747					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGACCATCAGAAAAAAATCA	0.363000														7			36		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579597	55579597	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55579597C>T	uc001nhw.1	+	0	655	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCTCCTACCTGCTAATTCT	0.502000														99			58		0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1684648	1684648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:1684648G>A	uc002ftm.4	-	10	2515	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*		NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	783							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TGGAGCTCCTGGATTTCATCG	0.537000														39			25		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115351989	115351989	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:115351989G>A	uc001lal.3	-	38	4772	c.4608C>T	c.(4606-4608)ttC>ttT	p.F1536F	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Silent_p.F1536F|NRAP_uc001lak.3_Silent_p.F1501F	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1536						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGGCAGTCTGGAAGGGGATGG	0.507000														30			21		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98797648	98797649	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:98797648_98797649GG>AA	uc002syo.3	+	8	1548_1549	c.1284_1285GG>AA	c.(1282-1287)ccggag>ccAAag	p.E429K	VWA3B_uc010yvh.2_Missense_Mutation_p.E279K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.E429K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E86K	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	429										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGCCAAACCGGAGAATGAGTC	0.574000														48			43		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895386	42895386	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:42895386G>A	uc003gwt.3	+	0	104	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	35					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGTGTATGAAGATGGGCAACC	0.517000														108			85		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862043	122862043	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:122862043G>A	uc001ucg.2	-	2	705	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	CLIP1_uc001uch.1_Missense_Mutation_p.P184S|CLIP1_uc001uci.1_Missense_Mutation_p.P184S|CLIP1_uc010tae.2_Missense_Mutation_p.P184S	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	184	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCTGATCGGAGGCGTAGCT	0.507000														78			79		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122809260	122809260	+	Silent	SNP	G	A	A	rs111436496		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:122809260G>A	uc003vkm.3	-	3	520	c.495C>T	c.(493-495)gtC>gtT	p.V165V	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	165						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGTGGCCTCGACCTCTGCTT	0.498000														34			14		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592929	158592929	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158592929G>A	uc001fst.1	-	42	6163	c.5964C>T	c.(5962-5964)atC>atT	p.I1988I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1988					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)					TCAGGTCAGTGATCTCGGGAA	0.507000														204			358		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835899	61835899	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61835899C>T	uc001jky.3	-	36	5078	c.4740G>A	c.(4738-4740)ccG>ccA	p.P1580P	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1580	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGTTTTTATCGGCGAAGACA	0.463000														103			95		0	0	1	0	0
MIR1297	100302187	broad.mit.edu	37	13	54886163	54886163	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:54886163G>A	uc021rkb.1	-	0		c.21C>T								Homo sapiens microRNA 1297 (MIR1297), microRNA.																		AATTCTAATAGATCAACCCTA	0.328000														32			21		0	0	1	0	0
PRRG2	5639	broad.mit.edu	37	19	50086803	50086803	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50086803C>T	uc002pon.3	+	2	255	c.90C>T	c.(88-90)gtC>gtT	p.V30V	NOSIP_uc002pok.3_5'Flank|NOSIP_uc002pol.3_5'Flank|NOSIP_uc010yay.1_5'Flank|PRRG2_uc010yaz.1_Silent_p.V7V	NM_000951	NP_000942	O14669	TMG2_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA.	30						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GTCCAGAAGTCTTCCTGGGTC	0.592000														99			68		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147467	54147467	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:54147467C>T	uc003xrh.1	-	1	837	c.462G>A	c.(460-462)gtG>gtA	p.V154V	OPRK1_uc022aup.1_Silent_p.V34V|OPRK1_uc003xri.1_Silent_p.V154V|OPRK1_uc010lyc.1_Silent_p.V65V	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	154					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGTAGCGGTCCACGCTCATCA	0.488000														49			35		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796158	62796158	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:62796158G>A	uc002jew.4	-	5	1793	c.882C>T	c.(880-882)ccC>ccT	p.P294P	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Silent_p.P294P					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		CTTTCTCCATGGGGATGGCCA	0.627000														17			9		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263202	1263202	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1263202G>A	uc001lta.3	+	30	5151	c.5092G>A	c.(5092-5094)Gcc>Acc	p.A1698T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1698	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AACACGCTCAGCCCTTCCAGG	0.672000														11			4		0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202550653	202550653	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:202550653G>T	uc002uyk.4	-	5	689	c.481C>A	c.(481-483)Caa>Aaa	p.Q161K	MPP4_uc010ftj.3_Missense_Mutation_p.Q161K|MPP4_uc010zhq.2_Missense_Mutation_p.Q161K|MPP4_uc010zht.2_Missense_Mutation_p.Q134K|MPP4_uc010zhr.2_Missense_Mutation_p.Q161K|MPP4_uc010zhs.2_Intron|MPP4_uc002uyj.4_Intron|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.Q161K|MPP4_uc002uym.1_Intron|MPP4_uc002uyn.3_Intron	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	161	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						AGGGGCTGTTGGTTTTTCACT	0.408000														64			33		8.16721e-17	8.27737e-17	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21065813	21065813	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21065813G>A	uc010vbe.2	-	27	3967	c.3967C>T	c.(3967-3969)Cag>Tag	p.Q1323*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1323	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGCACCAGCTGGACAATCTGC	0.552000														34			24		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544594	82544594	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82544594G>A	uc003uhx.2	-	6	12997	c.12708C>T	c.(12706-12708)ctC>ctT	p.L4236L	PCLO_uc003uhv.2_Silent_p.L4236L|PCLO_uc010lec.3_Silent_p.L1201L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4167	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATCTTGAAGGAGCCTTGCCC	0.398000														37			17		0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122190100	122190100	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:122190100C>T	uc001ubc.4	+	4	576	c.432C>T	c.(430-432)gcC>gcT	p.A144A	TMEM120B_uc009zxh.3_Silent_p.A144A	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	144						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCCTGGGTGCCGTGGCATGTC	0.607000														37			34		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697308	48697308	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:48697308G>A	uc003cuf.1	-	2	2970	c.2970C>T	c.(2968-2970)gaC>gaT	p.D990D	CELSR3_uc003cul.3_Silent_p.D920D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	920	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCCTCATAGTCTAATGGGG	0.527000														39			30		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10084769	10084769	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:10084769G>A	uc021xlv.1	-	9	1356	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	WDR1_uc021xlw.1_Missense_Mutation_p.S218F|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	358					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAGCGAAGGAGTCGTTCTC	0.597000														9			24		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876036	74876036	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:74876036C>T	uc001xpx.2	-	1	660	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	138					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTCACCTCCTCTTCCTCCTGG	0.512000														18			44		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897833	72897833	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:72897833G>A	uc003hgg.2	+	0	313	c.215G>A	c.(214-216)tGg>tAg	p.W72*	NPFFR2_uc010iig.2_5'UTR	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	72					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AAAAGTAGCTGGAGCCGGAGC	0.672000														26			17		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767432	181767432	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:181767432C>T	uc009wxt.3	+	47	6599	c.6404C>T	c.(6403-6405)aCa>aTa	p.T2135I	CACNA1E_uc001gow.3_Missense_Mutation_p.T2092I|CACNA1E_uc009wxs.3_Missense_Mutation_p.T2073I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2135					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.H2135H(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATACAGGGCACAGGTTCCCTA	0.552000														79			101		0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53421572	53421572	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53421572G>A	uc001sbh.4	+	6	880	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R225Q|EIF4B_uc010snv.2_Missense_Mutation_p.R186Q	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	225	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTAGAGTATCGAGATCGTTAT	0.478000														81			58		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005774	78005774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:78005774G>A	uc002ffg.1	+	7	1202	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	369							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCGGATTCACGACCGAGGGAA	0.522000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		178			139		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41243659	41243659	+	Silent	SNP	C	T	T	rs61159620		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:41243659C>T	uc002oot.3	+	5	1866	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	611						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTCCCCCTTCTTCAAGACCC	0.542000														53			42		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141595313	141595313	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:141595313T>C	uc003yvn.3	-	1	161	c.120A>G	c.(118-120)ttA>ttG	p.L40L	EIF2C2_uc010meo.3_Silent_p.L40L|EIF2C2_uc010men.3_Intron	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	40					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AATTGGCCTGTAATTTGATTG	0.498000														53			45		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230749	56230749	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:56230749C>T	uc010rjj.2	-	0	129	c.129G>A	c.(127-129)atG>atA	p.M43I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCAAAATGATCATACCAATAT	0.463000														31			23		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84806183	84806183	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:84806183C>T	uc010voe.2	+	12	2298	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S	USP10_uc002fii.3_Missense_Mutation_p.P679S|USP10_uc010vof.2_Missense_Mutation_p.P241S|USP10_uc002fij.3_Missense_Mutation_p.P205S	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	679					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGAAAAACTCCCTCCTGTCCT	0.458000														108			70		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791660	110791660	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:110791660C>T	uc003hzx.4	+	2	1813	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	LRIT3_uc003hzw.4_Silent_p.L402L	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	540						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CTCTCCTTCTCGTGGTGACCA	0.423000														89			45		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661510	77661510	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77661510G>A	uc011cbx.2	+	4	3137	c.2184G>A	c.(2182-2184)agG>agA	p.R728R	SHROOM3_uc011cbz.1_Silent_p.R552R|SHROOM3_uc003hkf.1_Silent_p.R603R|SHROOM3_uc003hkg.3_Silent_p.R506R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	728					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCGAGGGGAGGACCGGTGCCT	0.677000														47			35		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640582	32640582	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:32640582C>A	uc010ezu.3	+	9	2357	c.2223C>A	c.(2221-2223)gaC>gaA	p.D741E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	741					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTGTGCTGACGGAATTCATT	0.423000														35			30		3.73148e-12	3.76629e-12	1	1	0
CDH5	1003	broad.mit.edu	37	16	66429990	66429990	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:66429990G>A	uc002eom.4	+	7	1402	c.1246G>A	c.(1246-1248)Ggc>Agc	p.G416S		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	416	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.K415N(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGTGACAAGGGCCAGTTCTT	0.493000														46			42		0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80543936	80543936	+	Missense_Mutation	SNP	C	T	T	rs138822262	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:80543936C>T	uc002kfn.3	+	6	1607	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	FOXK2_uc002kfm.1_Missense_Mutation_p.A479V|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	479					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CAGATCCCAGCGGTGTCGGTC	0.652000														34			4		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861749	25861749	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:25861749G>A	uc001isj.3	+	6	1746	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	562						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G562R(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGCCAGGGGAAAACATCCG	0.443000														33			20		0	0	1	0	0
C3orf64	285203	broad.mit.edu	37	3	69053576	69053576	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:69053576G>A	uc003dnl.3	-	7	978	c.573C>T	c.(571-573)atC>atT	p.I191I	C3orf64_uc003dnj.3_5'Flank|C3orf64_uc003dnk.3_Silent_p.I191I|C3orf64_uc011bfw.2_Non-coding_Transcript|C3orf64_uc003dnm.1_Non-coding_Transcript	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA.	191						extracellular region	transferase activity, transferring glycosyl groups			NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TCAATGTACGGATGTCAAGTT	0.383000														41			34		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701596	23701596	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:23701596G>A	uc003zpu.3	-	4	769	c.494C>T	c.(493-495)tCa>tTa	p.S165L	ELAVL2_uc003zps.3_Missense_Mutation_p.S165L|ELAVL2_uc003zpt.3_Missense_Mutation_p.S165L|ELAVL2_uc003zpv.3_Missense_Mutation_p.S165L|ELAVL2_uc003zpw.3_Missense_Mutation_p.S165L	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	165	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACACCCCTTGATATGCCTAT	0.438000														15			42		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090573	111090573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:111090573G>A	uc004epl.1	-	5	2388	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TRPC5_uc004epm.1_Missense_Mutation_p.S490L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	490					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.S490L(4)		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						GAGACGCAACGAACTTAAAAT	0.463000														6			46		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266305	3266305	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3266305G>A	uc010uwv.2	+	0	744	c.596G>A	c.(595-597)gGa>gAa	p.G199E						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		TCCACAAAGGGAAGATGGAAA	0.527000														23			31		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82389990	82389990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82389990G>A	uc003uhx.2	-	23	15542	c.15253C>T	c.(15253-15255)Cga>Tga	p.R5085*		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5008					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R5085*(6)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAATCGAAAAGTTTCA	0.323000														46			43		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496506	152496506	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152496506C>T	uc021vrb.1	-	59	8783	c.8754G>A	c.(8752-8754)gtG>gtA	p.V2918V	NEB_uc002txu.3_Silent_p.V2918V|NEB_uc021vrc.1_Silent_p.V2918V|NEB_uc010fnx.3_Silent_p.V2918V|NEB_uc021vrd.1_Silent_p.V2918V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2918					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		TGCATTTTTCCACATCCAAAG	0.408000														70			46		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407174	62407174	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62407174G>A	uc002ygv.2	-	2	1280	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGATGCAGGGCGTCGTCCTT	0.667000														46			30		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390293	158390293	+	Missense_Mutation	SNP	G	A	A	rs111878656	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158390293G>A	uc010pii.2	-	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCTATGTAACGATCATAACCC	0.512000														129			63		0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133764560	133764560	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:133764560C>T	uc010tch.2	+	2	342	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tbx.2_Intron|ZNF268_uc010tbw.2_Missense_Mutation_p.P46S|ZNF268_uc010tce.2_Intron|ZNF268_uc010tcg.2_Missense_Mutation_p.P46S|ZNF268_uc010tca.2_Intron|ZNF268_uc010tcf.2_Missense_Mutation_p.P46S|ZNF268_uc010tcb.2_Missense_Mutation_p.P46S|ZNF268_uc021rgu.1_5'UTR	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	46						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCAACCTCTCCCTGGAACACC	0.512000														9			9		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230636299	230636299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:230636299G>A	uc002vpx.1	-	38	5772	c.5663C>T	c.(5662-5664)tCg>tTg	p.S1888L	TRIP12_uc021vxw.1_Missense_Mutation_p.S1873L|TRIP12_uc002vpy.1_Missense_Mutation_p.S1570L|TRIP12_uc002vpw.1_Missense_Mutation_p.S1840L	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1840	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTCTGAACGAATCAAATTG	0.373000														43			28		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44893724	44893724	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:44893724G>A	uc003cnx.4	+	33	4146	c.3997G>A	c.(3997-3999)Gtg>Atg	p.V1333M	KIF15_uc010hiq.3_Missense_Mutation_p.V1236M|KIF15_uc010hir.3_Missense_Mutation_p.V381M	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1333					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.Q1332H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAGGAAGCAGGTGGAGTGTCT	0.393000														33			18		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118213	106118213	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:106118213G>A	uc001kyh.3	+	1	258	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	42										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTTCGGATTGAATATGAGAG	0.388000														33			35		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022447	76022447	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76022447C>T	uc010kbe.3	-	5	3640	c.3110G>A	c.(3109-3111)cGg>cAg	p.R1037Q	FILIP1_uc003phy.1_Missense_Mutation_p.R1034Q|FILIP1_uc003phz.3_Missense_Mutation_p.R935Q|FILIP1_uc003pia.3_Missense_Mutation_p.R1034Q|FILIP1_uc003pib.1_Missense_Mutation_p.R786Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1034								p.R1034L(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGGATTGTCCGTCCCATGGG	0.468000														137			107		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10942960	10942960	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:10942960G>A	uc003mzo.3	+	22	2231	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	SYCP2L_uc010jow.3_Silent_p.L265L	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	645						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AACATAAGCTGAGAAACTTGG	0.323000														36			14		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365593	46365594	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:46365593_46365594GG>AA	uc002xto.3	-	2	598_599	c.268_269CC>TT	c.(268-270)ccc>TTc	p.P90F	SULF2_uc002xtr.3_Missense_Mutation_p.P90F|SULF2_uc002xtq.3_Missense_Mutation_p.P90F|SULF2_uc010ghv.1_Missense_Mutation_p.P90F	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	90					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGAGCGTGAGGGGCAGCACATG	0.594000														45			32		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214209138	214209138	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:214209138C>T	uc001hkh.3	+	4	2447	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	725	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTGAGATTTTCAAATCCCCGA	0.423000														37			51		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897258	36897258	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36897258C>T	uc003cgj.3	-	11	4071	c.3823G>A	c.(3823-3825)Gtg>Atg	p.V1275M		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1275					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTCACGTACACCCGGGGGTCA	0.483000														106			72		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809569	5809570	+	Missense_Mutation	DNP	GG	AA	AA	rs149811568		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5809569_5809570GG>AA	uc010qzo.2	-	0	477_478	c.477_478CC>TT	c.(475-480)atccct>atTTct	p.P160S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P160S(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAGTGGAAGGGATAACAAGCA	0.495000														40			28		0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131657895	131657895	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:131657895A>T	uc003kwq.3	+	3	836	c.671A>T	c.(670-672)aAg>aTg	p.K224M	SLC22A4_uc010jdq.1_Non-coding_Transcript|LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	224					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity	p.G223G(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATTCTTGGCAAGTCAGTTCGT	0.373000														86			61		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720205	95720205	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:95720205C>T	uc009xuj.2	-	0	1468	c.949G>A	c.(949-951)Gag>Aag	p.E317K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		CGTCGAGCCTCTCCCTGGATG	0.527000														43			32		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098619	70098619	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:70098619C>T	uc010kak.3	+	30	4681	c.4405C>T	c.(4405-4407)Cca>Tca	p.P1469S	BAI3_uc003pev.4_Missense_Mutation_p.P1469S|BAI3_uc011dxx.2_Missense_Mutation_p.P675S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1469					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1469L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAACAAGAATCCATGGGACAC	0.463000														22			18		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092489	13092489	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:13092489C>T	uc010xac.2	+	33	6297	c.6217C>T	c.(6217-6219)Ctt>Ttt	p.L2073F	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1598F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L495F|CEP192_uc002krx.3_Missense_Mutation_p.L77F|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1668										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGAGAATTCCTTCAGCCTTC	0.363000														37			40		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124268530	124268530	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124268530G>A	uc001uft.4	+	7	878	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	285	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTCTGGAGGGAAAGAAATGC	0.448000														48			9		0	0	1	0	0
CLEC18A	348174	broad.mit.edu	37	16	70219854	70219854	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70219854C>T	uc002exy.3	+	11	1398	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	CLEC18A_uc002eyk.3_Silent_p.T426T	NM_182619	NP_872425	A5D8T8	CL18A_HUMAN	Homo sapiens C-type lectin domain family 18, member A (CLEC18A), transcript variant 1, mRNA.	426	C-type lectin.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GCTGCAAAACCCGAAACCGTT	0.592000														57			19		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982186	176982186	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:176982186G>A	uc002ukj.3	+	0	695	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	209						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGCGGCCAGGAGCCCACCAA	0.647000														38			18		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092490	101092490	+	Silent	SNP	G	A	A	rs61756016	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:101092490G>A	uc011mrk.1	-	14	1416	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	352	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTGCCCGAGGGAGGAAGCAGG	0.557000														15			87		0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47187050	47187050	+	Missense_Mutation	SNP	G	A	A	rs11542794		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:47187050G>A	uc001ndt.3	-	15	1821	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	ARFGAP2_uc010rha.2_Missense_Mutation_p.R248C|ARFGAP2_uc010rhb.2_Missense_Mutation_p.R489C|ARFGAP2_uc001ndu.3_Missense_Mutation_p.R381C|ARFGAP2_uc010rhc.2_Missense_Mutation_p.R248C	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	517	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GAACCGTAGCGATCCTGGGGG	0.562000														65			56		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56589763	56589763	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:56589763G>T	uc002iwj.2	-	3	308	c.198C>A	c.(196-198)gaC>gaA	p.D66E	MTMR4_uc010dcx.1_Missense_Mutation_p.D80E	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	66						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGATGACAGAGTCCTTGAATT	0.502000														53			27		1.75199e-13	1.77031e-13	1	1	0
SLC45A4	57210	broad.mit.edu	37	8	142228733	142228733	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:142228733G>A	uc003ywd.1	-	3	1161	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	SLC45A4_uc003ywc.1_Missense_Mutation_p.H285Y|SLC45A4_uc010meq.1_Missense_Mutation_p.H283Y	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	336					transport	integral to membrane		p.H285H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GAGGCGTCGTGGAAGATGGAG	0.672000														58			32		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741506	164741506	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:164741506G>A	uc003fei.3	-	25	3014	c.2951C>T	c.(2950-2952)tCa>tTa	p.S984L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	984	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	TGAGTTGACTGAATAAGAGTT	0.403000										HNSCC(35;0.089)				41			33		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431097	135431097	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135431097C>T	uc004ezu.1	+	5	5523	c.5232C>T	c.(5230-5232)atC>atT	p.I1744I	GPR112_uc010nsb.1_Silent_p.I1539I|GPR112_uc010nsc.1_Silent_p.I1511I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1744					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)					ATTCCAGAATCACTGTTCCTG	0.418000														18			81		0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19260221	19260221	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:19260221C>T	uc002nlp.2	-	4	799	c.72G>A	c.(70-72)cgG>cgA	p.R24R	MEF2B_uc002nll.2_Silent_p.R24R|MEF2B_uc010xqo.1_Silent_p.R24R|MEF2B_uc010xqp.1_Silent_p.R24R|MEF2B_uc002nlo.2_Silent_p.R24R|MEF2B_uc002nlk.2_Silent_p.R24R	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCCCGAACTTCCGCTTGGTGA	0.562000														45			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167159	140167159	+	Silent	SNP	G	A	A	rs146494753		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140167159G>A	uc003lhb.2	+	0	1284	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHAC2_uc003lha.2_Silent_p.R428R|PCDHAC2_uc003lgz.3_Silent_p.R428R	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	442	Cadherin 4.				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)			TGACCGCGCGGGACGGGGGCT	0.642000														97			52		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	A	A	rs142884324	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:184008046G>A	uc003fni.4	+	13	1947	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_uc011brh.1_Missense_Mutation_p.E490K|ECE2_uc003fnl.4_Missense_Mutation_p.E565K|ECE2_uc003fnm.4_Missense_Mutation_p.E519K|ECE2_uc003fnk.4_Missense_Mutation_p.E490K|ECE2_uc011bri.1_Missense_Mutation_p.E552K|ECE2_uc010hxv.3_Missense_Mutation_p.E281K	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	637	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle 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)			CCCACAGTACGAAATTTCTGA	0.448000														13			9		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003508	122003508	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:122003508G>A	uc003eew.4	+	6	3175	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	CASR_uc003eev.4_Missense_Mutation_p.G903R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	903					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCAGCCTTGGAGGCTCCAC	0.667000														36			24		0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227182	28227182	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:28227182G>A	uc003nkt.3	+	0	85	c.33G>A	c.(31-33)gaG>gaA	p.E11E	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	11								p.E11K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GCTATTCCGAGGACATCGTGG	0.652000														52			22		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129706	204129706	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:204129706G>A	uc001haq.2	-	3	518	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	158					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGTCCTGGCTGAGAAAGCCAC	0.577000														34			40		0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681404	44681404	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:44681404G>A	uc003bet.2	-	3	636	c.503C>T	c.(502-504)cCc>cTc	p.P168L		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	168						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGGGCCTGGGGGAGGCTGCGG	0.697000														8			37		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381970	6381970	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6381970G>A	uc002gdd.4	-	6	825	c.674C>T	c.(673-675)tCc>tTc	p.S225F	PITPNM3_uc010cln.3_Missense_Mutation_p.S189F|PITPNM3_uc002gdc.4_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	225					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTGCGGGGAGGAGATGGCCAA	0.632000														14			5		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123969945	123969945	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:123969945G>A	uc001lfv.3	+	8	6365	c.6005G>A	c.(6004-6006)gGc>gAc	p.G2002D	TACC2_uc001lfw.3_Missense_Mutation_p.G148D|TACC2_uc009xzx.3_Missense_Mutation_p.G1957D|TACC2_uc010qtv.2_Missense_Mutation_p.G2006D|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.G80D|TACC2_uc001lga.3_Missense_Mutation_p.G80D|TACC2_uc009xzy.3_Missense_Mutation_p.G80D|TACC2_uc001lgb.3_Missense_Mutation_p.G37D|TACC2_uc010qtw.1_Missense_Mutation_p.G97D	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2002	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCCCTGATGGCCCACGGAGC	0.572000														22			11		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227016	149227016	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:149227016C>T	uc002twm.4	+	8	2501	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	502						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTCCCCAAGGCCATCAATGCC	0.458000														37			30		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2845063	2845063	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:2845063C>T	uc002whe.3	+	17	1821	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	PTPRA_uc002whj.3_5'UTR|VPS16_uc002whf.3_Silent_p.F447F|VPS16_uc002whg.3_Silent_p.F277F	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	591					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GAGATTTTTTCATGACCCTTC	0.537000														58			42		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26968909	26968909	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:26968909G>A	uc002hbu.3	-	6	867	c.764C>T	c.(763-765)tCa>tTa	p.S255L	KIAA0100_uc002hbv.3_Missense_Mutation_p.S255L|KIAA0100_uc010crr.2_Missense_Mutation_p.S112L	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	255						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGCTTTACCTGAACAGGGAAC	0.493000														81			8		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461738	50461738	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50461738G>A	uc010ybh.2	-	7	1544	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	485					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACCAGCGCAGAGAGGGGGCC	0.706000														17			9		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28841302	28841302	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:28841302C>T	uc001urz.3	+	10	1796	c.1644C>T	c.(1642-1644)atC>atT	p.I548I	PAN3_uc010tdo.1_Silent_p.I548I|PAN3_uc001ury.3_Silent_p.I236I|PAN3_uc001urx.3_Silent_p.I348I	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	548	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ACTCAAATATCGTAACTTTGC	0.388000														64			61		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46912014	46912014	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:46912014G>A	uc001ndn.4	-	13	1972	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	577					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCAATACGGGGGGTGTTGCCC	0.537000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			19		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20079400	20079400	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20079400C>T	uc002wru.3	+	7	915	c.801C>T	c.(799-801)ttC>ttT	p.F267F	C20orf26_uc010gcw.2_Silent_p.F221F|C20orf26_uc010zse.2_Silent_p.F267F|C20orf26_uc010zsf.1_Silent_p.F267F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	267								p.F267L(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GACTCTGTTTCCCACATCCTG	0.488000														52			37		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048423	6048423	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6048423G>A	uc010qzw.2	-	0	549	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGAGCAGGGAAGTGAGGAT	0.468000														69			49		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248363	117248364	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117248363_117248364CC>TT	uc003pxm.3	+	16	2122_2123	c.2059_2060CC>TT	c.(2059-2061)ccc>TTc	p.P687F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	687					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.P687L(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCCATTTATCCCACTCTCCCT	0.520000														79			62		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203424585	203424585	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:203424585C>T	uc002uzf.4	+	12	4181	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	BMPR2_uc010ftr.3_3'UTR	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	1011					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGTTCATTCCAAATCCAGCA	0.473000														29			33		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79742503	79742503	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:79742503G>A	uc001jzn.3	-	26	3635	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1168					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTCACCATGAACAGCCACA	0.532000														46			28		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239109	6239109	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6239109G>A	uc001mck.4	-	8	2108	c.1749C>T	c.(1747-1749)tgC>tgT	p.C583C	FAM160A2_uc001mcl.4_Silent_p.C569C|FAM160A2_uc001mcm.2_Silent_p.C569C	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	569					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGGTACGGCAGGCTCGGA	0.622000														31			32		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542797	28542797	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:28542797C>T	uc003nlo.3	-	2	2303	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	562					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATACTGGGCTCTTAAAGTATT	0.413000														88			53		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28604431	28604431	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28604431C>T	uc002kwj.4	-	5	814	c.659G>A	c.(658-660)gGa>gAa	p.G220E	DSC3_uc002kwi.4_Missense_Mutation_p.G220E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	220	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGCTGAATATCCATCTGCAGT	0.393000														54			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347704	140347704	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140347704C>T	uc003lii.3	+	0	1958	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.S451S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	451	Cadherin 4.				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)			AGCTCACATCCCTGCGTACAC	0.532000														112			79		0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47162359	47162359	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:47162359G>A	uc002eer.2	-	3	771	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	NETO2_uc010vgf.2_Missense_Mutation_p.R120C	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	120	CUB 1.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CCACAGTAACGATCTATAAGA	0.403000										HNSCC(25;0.065)				105			66		0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38242626	38242626	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:38242626G>A	uc001ize.1	-	4	404	c.299C>T	c.(298-300)tCa>tTa	p.S100L	ZNF25_uc001izf.1_Missense_Mutation_p.S64L	NM_145011	NP_659448	P17030	ZNF25_HUMAN	Homo sapiens zinc finger protein 25 (ZNF25), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AACTTGCCTTGAATTTCCAGC	0.353000														42			27		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37699389	37699389	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:37699389G>A	uc003arf.3	+	7	758	c.642G>A	c.(640-642)gtG>gtA	p.V214V	CYTH4_uc003are.2_Silent_p.V214V|CYTH4_uc011amw.2_Silent_p.V157V	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	214	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AGCGCTTTGTGTCCATGAACC	0.622000														11			23		0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45012442	45012442	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:45012442C>T	uc002ila.3	+	4	457	c.384C>T	c.(382-384)tcC>tcT	p.S128S	GOSR2_uc010wkh.1_Silent_p.S128S|GOSR2_uc002iky.3_Silent_p.S128S|GOSR2_uc002ikz.3_Silent_p.S128S	NM_004287	NP_004278	O14653	GOSR2_HUMAN	Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant A, mRNA.	128					ER to Golgi vesicle-mediated transport|cellular membrane fusion|protein transport	Golgi membrane|integral to membrane	transporter activity	p.S128F(1)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			AGTTTAACTCCTCCCTCCAGA	0.463000														76			49		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055158	94055158	+	Missense_Mutation	SNP	C	T	T	rs145633247		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:94055158C>T	uc003ung.1	+	43	3403	c.2932C>T	c.(2932-2934)Cgt>Tgt	p.R978C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	978					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACATGGAAACCGTGGTGAAAC	0.572000										HNSCC(75;0.22)				9			11		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577791	30577791	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:30577791C>T	uc022bui.1	-	0	682	c.682G>A	c.(682-684)Gac>Aac	p.D228N	CXorf21_uc004dcg.2_Missense_Mutation_p.D228N	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	228										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AACACGGTGTCCATAATGTAC	0.413000														11			59		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94035004	94035004	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:94035004G>A	uc003ung.1	+	10	977	c.506G>A	c.(505-507)gGa>gAa	p.G169E	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	169					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTTTCCCTGGAACTCCTGGA	0.373000										HNSCC(75;0.22)				79			45		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15733127	15733127	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15733127C>T	uc002nbi.3	+	6	685	c.621C>T	c.(619-621)ttC>ttT	p.F207F	CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	208					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AATGCATCTTCAGCTTTGACA	0.572000														35			22		0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98927146	98927146	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:98927146C>T	uc001tfh.2	+	3	1406	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	273	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTAATTTCTCCGCCACTTGC	0.473000														61			39		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120575151	120575151	+	Silent	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:120575151G>C	uc003yos.2	-	24	2609	c.2523C>G	c.(2521-2523)ctC>ctG	p.L841L	ENPP2_uc011lic.2_Silent_p.L327L|ENPP2_uc003yor.2_Silent_p.L424L|ENPP2_uc010mdd.2_Silent_p.L814L|ENPP2_uc003yot.2_Silent_p.L789L	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	789	Required for secretion (By similarity).				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.P840T(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGACACAGAGAGAGGGCCGT	0.517000														32			27		0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62569098	62569098	+	Silent	SNP	G	A	A	rs140528299		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62569098G>A	uc001nvf.1	-	6	781	c.645C>T	c.(643-645)atC>atT	p.I215I	NXF1_uc001nvg.1_Silent_p.I215I|NXF1_uc009yog.1_Silent_p.I258I|NXF1_uc010rmh.1_Silent_p.I78I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	215	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.I215I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTTGCTCATGATCAGCTAGA	0.498000														67			41		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633522	70633522	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70633522G>A	uc001xly.3	-	1	2372	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	SLC8A3_uc001xlw.3_Missense_Mutation_p.H540Y|SLC8A3_uc001xlx.3_Missense_Mutation_p.H540Y|SLC8A3_uc001xlz.3_Missense_Mutation_p.H540Y|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	540	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCACTGACATGAATAGTATCA	0.517000														16			33		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232733	58232733	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:58232733G>A	uc002qpz.4	-	3	820	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.L164F|ZNF671_uc010yhf.2_Missense_Mutation_p.L143F	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACATGTGAGGGTCTTCTCT	0.532000														48			43		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978191	10978191	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:10978191C>T	uc001qyy.1	-	0	678	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	226					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAAAACTTTCATTGCCTTCA	0.368000														63			44		0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62517393	62517393	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62517393T>C	uc002ygy.3	+	5	639	c.501T>C	c.(499-501)ttT>ttC	p.F167F	TPD52L2_uc021wgf.1_Intron|TPD52L2_uc021wgg.1_Intron|TPD52L2_uc011abk.2_Intron|TPD52L2_uc002ygz.3_Intron|TPD52L2_uc002yha.3_Silent_p.F147F|TPD52L2_uc002yhb.3_Intron|TPD52L2_uc011abl.2_Intron|TPD52L2_uc002yhc.3_Intron|TPD52L2_uc002yhd.3_Intron|TPD52L2_uc021wgh.1_Intron|TPD52L2_uc021wgi.1_Intron	NM_199360	NP_955392	O43399	TPD54_HUMAN	Homo sapiens tumor protein D52-like 2 (TPD52L2), transcript variant 1, mRNA.	157					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CACACTCCTTTAGGTAAGGCT	0.582000														29			20		0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6625170	6625170	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:6625170G>A	uc003mwy.1	+	1	182	c.148G>A	c.(148-150)Gat>Aat	p.D50N	LY86-AS1_uc003mww.4_5'Flank|LY86-AS1_uc003mwx.2_5'Flank	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	50					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TCCATTACAAGATTTTGGCTT	0.279000														31			6		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814002	43814002	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43814002G>A	uc001zrt.3	+	3	798	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	111						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCTAGAGGAGGAGCAGTC	0.547000														60			33		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443904	61443904	+	Missense_Mutation	SNP	C	T	T	rs143724578		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61443904C>T	uc010qig.1	-	1	595	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	49					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.G49E(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCTGTTTTTCCTTTTCCTTC	0.428000														106			18		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705811	30705811	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:30705811G>A	uc003xil.3	-	0	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	241										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCAGGTCAGCGAAGTTTTTCA	0.333000														57			34		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57850015	57850015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57850015G>A	uc001snw.3	+	1	661	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	146					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TTCCGATGGGGACCAAGGAGG	0.622000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		122			89		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241749995	241749995	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:241749995C>T	uc009xgp.3	+	10	1283	c.972C>T	c.(970-972)tgC>tgT	p.C324C	KMO_uc001hyy.3_Silent_p.C364C|KMO_uc009xgo.2_Silent_p.C364C	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	324					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTGAAGACTGCTTGGTATTTG	0.308000														100			35		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278672	130278672	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:130278672G>A	uc001qgg.4	-	6	2272	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	ADAMTS8_uc001qgf.3_Silent_p.F119F	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	638	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCTTGGCCTCGAACACTTTGA	0.647000														80			61		0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60899664	60899665	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:60899664_60899665GG>TA	uc001nqv.1	-	4	755_756	c.695_696CC>TA	c.(694-696)tcc>tTA	p.S232L		NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog C (S. cerevisiae) (VPS37C), mRNA.	232	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						AGGAGGGCTGGGACACTACTGG	0.683000														4			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13931251C>T	uc003jfd.2	-	1	202	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	54	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E54K(4)		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)					TCCTCCACTTCGGTTTTGTTC	0.488000									Kartagener syndrome					74			50		0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61039994	61039994	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61039994G>A	uc002ycx.1	-	6	1154	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	Homo sapiens GATA binding protein 5 (GATA5), mRNA.	364					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CCTCAGGCTCGAACTTGAACT	0.677000														15			10		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913641	77913641	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:77913641C>T	uc022bzi.1	-	0	277	c.277G>A	c.(277-279)Gat>Aat	p.D93N	ZCCHC5_uc004edc.1_Missense_Mutation_p.D93N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	93	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTAGAAGATCCTGTGGCTCT	0.647000														3			14		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933123	43933123	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:43933123C>T	uc002xnn.2	-	2	575	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	MATN4_uc002xnp.2_Missense_Mutation_p.G130S|MATN4_uc002xno.2_Missense_Mutation_p.G130S|MATN4_uc010zwr.1_Missense_Mutation_p.G78S|MATN4_uc002xnr.1_Missense_Mutation_p.G130S|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	130	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGTCGCGCGCCCTCGGCCACA	0.716000														10			7		0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184922264	184922264	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:184922264G>A	uc003fpf.3	-	5	926	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	EHHADH_uc011brs.2_Missense_Mutation_p.P188S	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	284	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.P284P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GCTCCGGAGGGAGTTGACCAC	0.493000														63			45		0	0	1	0	0
AK302514	0	broad.mit.edu	37	6	66013289	66013289	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:66013289G>A	uc011dxv.2	+	1	1566	c.875G>A	c.(874-876)gGc>gAc	p.G292D	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		TTTTCGACAGGCGGTGACAGT	0.483000														35			18		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209789968	209789968	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:209789968C>T	uc001hhg.3	-	21	3619	c.3229_splice	c.e21-1	p.G1077_splice	LAMB3_uc009xco.3_Splice_Site_p.G1077_splice|LAMB3_uc001hhh.3_Splice_Site_p.G1077_splice	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1077	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCTCTCAAATCCCTGAAAAAG	0.463000														40			52		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182617391	182617391	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:182617391C>T	uc010pnw.1	-	5	499	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RGS8_uc001gpn.1_Missense_Mutation_p.E81K|RGS8_uc001gpm.1_Missense_Mutation_p.E99K	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	81	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TCCAGGTTCTCCTCACTGAAC	0.488000														274			94		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353867	101353867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:101353867C>T	uc001pgk.4	-	4	1748	c.1323G>A	c.(1321-1323)atG>atA	p.M441I	TRPC6_uc009ywy.3_Missense_Mutation_p.M325I|TRPC6_uc009ywz.1_Missense_Mutation_p.M386I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	441					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTACAAACTTCATGAATGGTC	0.403000														30			26		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242396195	242396196	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:242396195_242396196CC>TT	uc002wbi.2	+	13	1609_1610	c.1445_1446CC>TT	c.(1444-1446)tcc>tTT	p.S482F	FARP2_uc010zoq.2_Missense_Mutation_p.S482F|FARP2_uc010zor.2_Missense_Mutation_p.S482F	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	482	Pro-rich.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCTTCTCCCTCCAGCCGGAAGA	0.604000														74			51		0	0	1	0	0
AK054990	0	broad.mit.edu	37	2	131176653	131176653	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:131176653C>T	uc002trf.1	-	2		c.517G>A								Homo sapiens cDNA FLJ30428 fis, clone BRACE2008941.																		CCTGGGTTTCCTTCCAATGAG	0.493000														5			5		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114837332	114837332	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:114837332G>A	uc001tvo.3	-	3	843	c.348C>T	c.(346-348)ttC>ttT	p.F116F	TBX5_uc001tvp.3_Silent_p.F116F|TBX5_uc001tvq.3_Silent_p.F66F|TBX5_uc010syv.2_Silent_p.F116F	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	116					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TATTATCTGCGAATTTGTATC	0.448000														60			74		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848462	83848462	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:83848462C>T	uc011dyy.2	+	20	4934	c.4674C>T	c.(4672-4674)ttC>ttT	p.F1558F	DOPEY1_uc003pjs.1_Silent_p.F1567F|DOPEY1_uc010kbl.1_Silent_p.F1558F|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1567					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTATTAATTTCTCAGAGGATG	0.418000														75			52		0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209036794	209036794	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:209036794G>A	uc002vcr.3	-	6	544	c.372C>T	c.(370-372)ccC>ccT	p.P124P		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	124										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						ATGAAACTCGGGGAACCTGAA	0.473000														99			80		0	0	1	0	0
RARRES1	5918	broad.mit.edu	37	3	158428644	158428644	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:158428644T>C	uc003fci.3	-	2	489	c.418A>G	c.(418-420)Acc>Gcc	p.T140A	RARRES1_uc003fcj.3_Missense_Mutation_p.T140A	NM_206963	NP_996846	P49788	TIG1_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 1 (RARRES1), transcript variant 1, mRNA.	140					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	ACATTGATGGTTGGTCTGGGT	0.418000														68			61		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66499040	66499040	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:66499040G>A	uc011dxw.2	+	0		c.1269G>A								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		GATTGGTGGGGAATTTCAGTC	0.403000														28			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745415	140745415	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140745415C>T	uc003lju.2	+	0	1518	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.S506S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	508	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATGTATCCATTAACTCTG	0.562000														128			109		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111408297	111408297	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:111408297G>A	uc002tgc.3	-	17	2141	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	BUB1_uc010yxh.2_Missense_Mutation_p.R657C|BUB1_uc010fkb.3_Missense_Mutation_p.R677C	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	677					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGCTCAGACGAAGTAAGGAT	0.502000														47			6		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1149760	1149760	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1149760C>T	uc009xhm.1	+	9	1121	c.948C>T	c.(946-948)ctC>ctT	p.L316L	WDR37_uc001igf.1_Silent_p.L315L|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	315										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CGTCCGAGCTCGTTCACTCTC	0.597000														13			16		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258636	25258636	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:25258636G>A	uc002dod.4	-	4	1288	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.S90F|ZKSCAN2_uc002doe.2_Missense_Mutation_p.S294F	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	294	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTTGTTAGAGGAATGCAGACC	0.428000														55			30		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329880	152329880	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152329880C>T	uc001ezw.4	-	2	455	c.382G>A	c.(382-384)Ggt>Agt	p.G128S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	128							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)			TGTCTGTAACCTGATTTATGT	0.473000														98			169		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584229	88584229	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:88584229C>T	uc003hqv.3	+	5	1403	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	DMP1_uc003hqw.3_Silent_p.L417L	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	433					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGAGGGCCTCCAGTCTCACA	0.552000														69			47		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905874	38905874	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:38905874G>A	uc021yzh.1	+	77	11797	c.11688G>A	c.(11686-11688)gaG>gaA	p.E3896E	DNAH8_uc003ooe.2_Silent_p.E3679E|DNAH8_uc003oog.1_Silent_p.E128E|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGGCTCAGGAGGAGTTCCGGC	0.517000														85			31		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125549	34125549	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:34125549C>T	uc011kap.2	+	13	1964	c.1590C>T	c.(1588-1590)tcC>tcT	p.S530S		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	530	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGTGGAGTCCAATGAGTTCT	0.473000														51			45		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823854	156823854	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156823854G>A	uc010pht.2	-	1	626	c.327C>T	c.(325-327)ctC>ctT	p.L109L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.L109L	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	109					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCAGGAAGAGGCGCGTCC	0.627000														29			16		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100488959	100488959	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100488959C>T	uc003uxd.3	-	3	1710	c.1554_splice	c.e3-1	p.G518_splice	UFSP1_uc003uxc.4_5'Flank|ACHE_uc003uxe.3_Splice_Site_p.G518_splice|ACHE_uc003uxf.3_Splice_Site_p.G518_splice|ACHE_uc003uxg.3_Splice_Site_p.G518_splice|ACHE_uc003uxh.3_Splice_Site_p.G430_splice|ACHE_uc003uxi.3_Splice_Site_p.G518_splice	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	518					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CATTGGGATCCCTGCGGAAGG	0.677000														22			20		0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39217564	39217564	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:39217564T>G	uc003gtv.3	+	10	1219	c.1065T>G	c.(1063-1065)gaT>gaG	p.D355E	WDR19_uc010ifl.1_Missense_Mutation_p.D172E|WDR19_uc003gtu.1_Missense_Mutation_p.D355E|WDR19_uc011byi.2_Missense_Mutation_p.D195E|WDR19_uc003gtw.1_5'UTR	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	355					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TACTTGGGGATGCCTGCAGCA	0.478000														25			17		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602273	138602273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:138602273G>A	uc011kql.2	-	1	2148	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	KIAA1549_uc011kqj.2_Missense_Mutation_p.S700F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	700	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGCAGCTCGGAACTTGGCTG	0.468000			O	BRAF	pilocytic astrocytoma									52			27		0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56291629	56291629	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:56291629G>A	uc002ivr.2	-	5	710	c.635C>T	c.(634-636)cCc>cTc	p.P212L	MKS1_uc010wnq.2_Missense_Mutation_p.P9L|MKS1_uc021uam.1_Missense_Mutation_p.P202L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	212					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTTTTATAGGGCCCCAGGTC	0.502000														31			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801482	140801482	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140801482C>T	uc003lkq.2	+	0	946	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.R230C|PCDHGC5_uc003lkp.2_Missense_Mutation_p.R230C	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	229	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTCCCATTCGTGTGGTGGT	0.537000														55			40		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58388327	58388327	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:58388327G>A	uc002qqo.2	-	1	392	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ZNF814_uc002qqk.2_Non-coding_Transcript|ZNF814_uc010yhl.2_Non-coding_Transcript	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	40	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCACATCACGGTACAGGCATC	0.488000														69			50		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646654	71646654	+	Missense_Mutation	SNP	G	A	A	rs114543585	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:71646654G>A	uc003xyq.3	+	4	1651	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	XKR9_uc010lzd.3_Missense_Mutation_p.E241K|XKR9_uc010lze.3_Missense_Mutation_p.E373K	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	373						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTCCTAATGGAATAAGCTAT	0.303000														24			9		0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110712	110712	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:110712G>A	uc002loc.1	+	0	34	c.34G>A	c.(34-36)Gat>Aat	p.D12N	OR4F17_uc002lob.1_Missense_Mutation_p.D12N	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GGGTCTCTCTGATTCTCAGGG	0.388000														777			104		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10127765	10127765	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:10127765G>A	uc002mmr.3	+	1	385	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	46					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GGGGAAGAAGGAGACACTGGA	0.647000														12			15		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144201	55144201	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:55144201C>T	uc002qgj.3	+	6	1288	c.948C>T	c.(946-948)atC>atT	p.I316I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.I316I|LILRB1_uc002qgk.3_Silent_p.I316I|LILRB1_uc002qgm.3_Silent_p.I316I|LILRB1_uc010erq.3_Silent_p.I316I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	316	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCTGGACATCCTGATCGCAG	0.682000										HNSCC(37;0.09)				37			27		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929401	119929401	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:119929401G>A	uc001ehr.1	+	4	850	c.718G>A	c.(718-720)Ggt>Agt	p.G240S	HAO2_uc001ehq.1_Missense_Mutation_p.G240S	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	240	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAATGTCCAGGGTATCATTGT	0.458000														97			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665278	179665278	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179665278C>T	uc021vsy.1	-	3	652	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TTN_uc021vsz.1_Missense_Mutation_p.E143K|TTN_uc021vta.1_Missense_Mutation_p.E143K|TTN_uc021vtb.1_Missense_Mutation_p.E143K|TTN_uc002unb.2_Missense_Mutation_p.E143K|TTN_uc002und.3_Missense_Mutation_p.E143K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	143	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGGATTTCGGCTCCATCC	0.502000														81			52		0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447612	3447612	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrY:3447612C>T	uc004fqk.3	+	1	391	c.327C>T	c.(325-327)ctC>ctT	p.L109L	TGIF2LY_uc022ciw.1_Silent_p.L109L	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GACGCATTCTCCCGGATATGC	0.507000														16			93		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151741	160151741	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:160151741G>A	uc001fve.4	+	19	3368	c.2889G>A	c.(2887-2889)ggG>ggA	p.G963G	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.G466G|ATP1A4_uc001fvh.3_Silent_p.G99G	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	963					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAATATTTGGGATCCTGGAGG	0.532000														162			52		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36978766C>T	uc010jwp.1	+	2	489	c.318C>T	c.(316-318)atC>atT	p.I106I	FGD2_uc011dtu.1_Silent_p.I106I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	106	DH.				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	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612000														58			15		0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42165061	42165061	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:42165061G>A	uc002iff.1	-	12	1938	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	HDAC5_uc002ifd.1_Missense_Mutation_p.L535F|HDAC5_uc002ife.1_Missense_Mutation_p.L535F|HDAC5_uc010czp.1_Missense_Mutation_p.L535F|HDAC5_uc002ifg.1_5'Flank|HDAC5_uc002ifh.2_Missense_Mutation_p.L535F	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	535					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GTCTTGGTGAGGATCTGATAA	0.602000														72			41		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161740	6161740	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6161740C>T	uc001qnn.1	-	15	2405	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	719					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGATGTCTTCTGGCTGGAAG	0.587000														82			47		0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2908382	2908382	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:2908382G>A	uc001qkz.3	+	4	841	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	215	PPIase FKBP-type 2.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GGAGAAAGGAGAACATTCCAT	0.527000														38			40		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16291952	16291952	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16291952C>T	uc002den.4	-	9	1301	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.E434K	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	422	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGGACGCTCTCGGTCAGCCGC	0.627000														21			10		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79386028	79386028	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:79386028C>T	uc001diq.4	-	9	1457	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	434					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATAATTATTCCTAGTTGAGT	0.308000														73			32		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31375078	31375078	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31375078C>T	uc002wyc.3	+	5	796	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.P159S|DNMT3B_uc002wye.3_Missense_Mutation_p.P159S|DNMT3B_uc010ztz.2_Missense_Mutation_p.P117S|DNMT3B_uc010zua.2_Missense_Mutation_p.P83S|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.P171S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	159	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACGCCATGGCCGTCCCCTCC	0.612000														96			20		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429162	10429162	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10429162C>T	uc010coi.3	-	30	4347	c.4219G>A	c.(4219-4221)Gag>Aag	p.E1407K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1407K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1407					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1407E(1)|p.A1406S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACATGTTCCTCAGCTGCCTGC	0.483000														40			24		0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159840983	159840983	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:159840983A>G	uc003lyg.3	-	3	483	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	110					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTAATTATGGAATTCTATAAA	0.308000														27			24		0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556843	1556843	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:1556843G>A	uc010dsn.3	-	1	675	c.675C>T	c.(673-675)atC>atT	p.I225I	MEX3D_uc021uml.1_Silent_p.I225I	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	Homo sapiens mex-3 homolog D (C. elegans) (MEX3D), transcript variant 1, mRNA.	225	KH 1.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGGTCACGATGAAGACCG	0.657000														25			9		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683376	6683376	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6683376C>T	uc010vtg.2	+	1	309	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	63										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CCATCACCTTCAGCGGGAGAC	0.507000														84			47		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7762901	7762901	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:7762901C>T	uc001ijs.3	+	6	875	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	238					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATGGTGTTCCGGTCATTTCT	0.488000														56			43		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141113930	141113930	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:141113930C>T	uc002tvj.1	-	74	12483	c.11511G>A	c.(11509-11511)atG>atA	p.M3837I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3837	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTGTTTTTCATGTTTCTCT	0.353000										TSP Lung(27;0.18)				61			42		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986958	166986958	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:166986958G>A	uc003irh.2	+	15	2778	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	TLL1_uc011cjn.2_Missense_Mutation_p.E734K|TLL1_uc011cjo.2_Missense_Mutation_p.E535K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	711	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATGAGAATTGAATTCAAATC	0.388000														81			59		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802353	185802353	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:185802353G>A	uc002uph.3	+	3	2824	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	744						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						TCTTCAAAATGATATGAAACA	0.338000														44			36		0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171811210	171811210	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:171811210C>T	uc002ugk.3	+	5	1432	c.617C>T	c.(616-618)cCa>cTa	p.P206L	GORASP2_uc002ugj.3_Missense_Mutation_p.P138L|GORASP2_uc010zdl.2_Missense_Mutation_p.P218L|GORASP2_uc010zdm.2_Missense_Mutation_p.P162L|GORASP2_uc002ugl.3_Missense_Mutation_p.P138L|GORASP2_uc002ugm.3_5'UTR	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	206						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CCTACACGCCCATTTGAGGAA	0.378000														34			20		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178311167	178311167	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:178311167C>T	uc003mjl.3	+	4	1940	c.1714C>T	c.(1714-1716)Cat>Tat	p.H572Y	ZNF354B_uc003mjm.3_Missense_Mutation_p.H572Y	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAAAGAATTCATACTGGAGA	0.353000														42			22		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101505376	101505376	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:101505376C>T	uc010svm.1	+	23	2910	c.2338C>T	c.(2338-2340)Ctc>Ttc	p.L780F	ANO4_uc001thw.2_Missense_Mutation_p.L745F|ANO4_uc001thx.2_Missense_Mutation_p.L780F|ANO4_uc001thy.2_Missense_Mutation_p.L300F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	780						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CATTGGAATTCTCTCTGTTAT	0.368000										HNSCC(74;0.22)				38			22		0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762492	15762492	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:15762492G>A	uc003caj.1	-	7	979	c.836C>T	c.(835-837)gCt>gTt	p.A279V	ANKRD28_uc003cai.1_Missense_Mutation_p.A125V|ANKRD28_uc011avz.1_Missense_Mutation_p.A125V|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Missense_Mutation_p.A309V|ANKRD28_uc003cam.2_Missense_Mutation_p.A312V	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	279						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGATGCAGCAGCAAAGTGCAA	0.383000														97			73		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56297069	56297069	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56297069C>T	uc010ygf.2	-	11	3735	c.3024G>A	c.(3022-3024)ttG>ttA	p.L1008L	NLRP11_uc002qlz.3_Silent_p.L855L|NLRP11_uc002qmb.3_Silent_p.L909L|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	1008							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACATGTAATCCAAATTAGAAT	0.388000														56			36		0	0	1	0	0
FAM75D3	389762	broad.mit.edu	37	9	84562561	84562561	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:84562561C>T	uc010mpt.2	+	3	2479	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	AK097447_uc004ami.1_Intron|DQ577940_uc004amm.1_5'Flank	NM_207416	NP_997299	P0C874	YI039_HUMAN	Homo sapiens family with sequence similarity 75, member D3 (FAM75D3), mRNA.	798						integral to membrane											AGGTCTAACTCTGAGAGAGAC	0.468000														19			18		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569512	119569512	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:119569512C>T	uc003pym.1	-	5	1347	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MAN1A1_uc010kei.2_Missense_Mutation_p.R325Q	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	302					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGCTTTCTTTCGAAAAATCTG	0.348000														45			16		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131569132	131569132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:131569132G>A	uc010tbm.2	+	15	2250	c.1691G>A	c.(1690-1692)gGa>gAa	p.G564E	GPR133_uc001uit.4_Missense_Mutation_p.G532E|GPR133_uc009zyo.3_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.G51E	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	532					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTCACGAGAGGAAACCTCACC	0.622000														32			18		0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32955605	32955605	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:32955605C>T	uc002hif.3	+	3	1080	c.752C>T	c.(751-753)aCc>aTc	p.T251I		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	251						integral to membrane		p.V250V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AAGGGTGTGACCCTTTTAGGT	0.597000														16			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718799	140718799	+	Silent	SNP	G	A	A	rs140493211	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140718799G>A	uc003ljk.2	+	0	446	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.A87A	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCACTGCGAACAGGATAG	0.552000														68			42		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414325	121414325	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:121414325G>A	uc001pxx.3	+	12	1883	c.1754G>A	c.(1753-1755)gGc>gAc	p.G585D		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	585					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTGTATGGCCTCCTCACA	0.493000														77			57		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290867	141290867	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:141290867G>A	uc022cfj.1	-	0	907	c.907C>T	c.(907-909)Ccg>Tcg	p.P303S	MAGEC2_uc004fbu.2_Missense_Mutation_p.P303S	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	303	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCTCTCGGACCCCACAGG	0.488000										HNSCC(46;0.14)				12			70		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9007833	9007833	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9007833G>A	uc002mkp.3	-	41	39595	c.39391C>T	c.(39391-39393)Cgg>Tgg	p.R13131W	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13133					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAGCTCCGATGGGTGAAA	0.532000														37			16		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582641	31582641	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:31582641G>A	uc001wrc.1	-	32	6395	c.5906C>T	c.(5905-5907)tCt>tTt	p.S1969F	HECTD1_uc001wra.1_Missense_Mutation_p.S95F|HECTD1_uc001wrb.1_Missense_Mutation_p.S95F|HECTD1_uc001wrd.1_Missense_Mutation_p.S1437F	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1969					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGAAGAGTAGAAATGGCCCC	0.378000														115			68		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740427	37740427	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:37740427C>T	uc004aag.1	+	14	1946	c.1902C>T	c.(1900-1902)ggC>ggT	p.G634G	FRMPD1_uc004aah.1_Silent_p.G634G|FRMPD1_uc011lqm.2_Silent_p.G456G|FRMPD1_uc011lqn.2_Silent_p.G503G	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	634						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCTCGCCAGGCCTCGCAGAGA	0.597000														31			18		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990075	63990075	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:63990075C>T	uc003peh.3	-	3	1415	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	461					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACAAGGGCATCTTCTAGTTTT	0.428000														51			49		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18040898	18040898	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:18040898G>A	uc021trm.1	+	15	4999	c.4780_splice	c.e15-1	p.D1594_splice	MYO15A_uc021trl.1_Splice_Site_p.D1592_splice	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1594	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CACCTGGCAGGACCTGAGCTT	0.542000														19			7		0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73827435	73827435	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:73827435G>T	uc001jso.2	-	6	1090	c.645C>A	c.(643-645)ttC>ttA	p.F215L	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.F215L	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	215					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAAGGAGCTGGAACCAGTCCC	0.622000														22			13		4.36969e-10	4.4006e-10	1	1	0
SMOC1	64093	broad.mit.edu	37	14	70478257	70478257	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70478257G>T	uc001xlt.2	+	8	1195	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	SMOC1_uc001xls.2_Missense_Mutation_p.D305Y	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	305					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGAGGCGGATGACCCCTTCAA	0.597000														8			24		2.39556e-15	2.42243e-15	1	1	0
OR4K1	79544	broad.mit.edu	37	14	20404214	20404214	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20404214T>G	uc001vwj.2	+	0	448	c.389T>G	c.(388-390)cTg>cGg	p.L130R		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTAAGCCTCTGCACTACAGT	0.438000														108			38		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241713040	241713040	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:241713040G>C	uc009xgp.3	+	2	499	c.188G>C	c.(187-189)cGa>cCa	p.R63P	KMO_uc001hyy.3_Missense_Mutation_p.R103P|KMO_uc009xgo.2_Missense_Mutation_p.R103P	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	63					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CATAGAGGACGACAAGCCTTG	0.418000														67			66		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643921	53643921	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53643921G>A	uc002qbc.2	-	4	2590	c.2163C>T	c.(2161-2163)gtC>gtT	p.V721V	ZNF347_uc002qbb.2_Silent_p.V720V|ZNF347_uc010eql.2_Silent_p.V721V	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GGCTTGAACGGACACTAAAGG	0.428000														134			93		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100366321	100366321	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:100366321C>T	uc001dsi.1	+	25	3892	c.3492C>T	c.(3490-3492)taC>taT	p.Y1164Y	AGL_uc001dsj.1_Silent_p.Y1164Y|AGL_uc001dsk.1_Silent_p.Y1164Y|AGL_uc001dsl.1_Silent_p.Y1164Y|AGL_uc001dsm.1_Silent_p.Y1148Y|AGL_uc001dsn.1_Silent_p.Y1147Y	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1164					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)		TCCAGGATTACTGTAAAATGG	0.458000														112			169		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120155	12120155	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:12120155G>T	uc003nac.3	+	3	306	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	43					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAACTTCGGAATCCCTTAA	0.353000														187			74		4.49761e-31	4.57198e-31	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430875	37430875	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:37430875C>T	uc021ppc.1	+	6	981	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ANKRD30A_uc001iza.1_Silent_p.F294F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGGAAAGTTCGAACAGTCAG	0.443000														57			50		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878822	131878822	+	Splice_Site	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:131878822A>C	uc003vra.4	-	14	3085	c.2856_splice	c.e14+1	p.M952_splice		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	952	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGACTCACCATGAAGTAATA	0.592000														40			17		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966563	41966563	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:41966563G>A	uc010skn.2	+	9	1990	c.1982G>A	c.(1981-1983)gGa>gAa	p.G661E	PDZRN4_uc001rmq.4_Missense_Mutation_p.G403E|PDZRN4_uc009zjz.3_Missense_Mutation_p.G401E|PDZRN4_uc001rmr.3_Missense_Mutation_p.G288E	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	661							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGCAAGAGGGAGTGGAGCAT	0.453000														62			38		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43512939	43512939	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43512939C>T	uc001zrb.4	-	0	385	c.85G>A	c.(85-87)Gga>Aga	p.G29R	EPB42_uc001zra.4_Intron|EPB42_uc010udm.2_Intron	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.G29R(2)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATCCCACTTCCTTTAATGAAA	0.602000														111			88		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749732	30749732	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30749732C>T	uc002dze.1	+	33	8756	c.8371C>T	c.(8371-8373)Ccg>Tcg	p.P2791S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2586S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2791	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2791L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCGGGAAGCCCGTCTGTCCG	0.662000														44			37		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43262760	43262760	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43262760G>A	uc001zqq.3	-	39	4481	c.4415C>T	c.(4414-4416)tCc>tTc	p.S1472F		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1472					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.H1471Y(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAAGATGCGGAATGAGCCTC	0.353000														52			32		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183652188	183652188	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:183652188G>A	uc003ivd.1	+	14	2938	c.2863G>A	c.(2863-2865)Gat>Aat	p.D955N	ODZ3_uc003ive.1_Missense_Mutation_p.D361N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	955					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCCCAGCTGTGATCTGAGTGG	0.423000														32			28		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135026287	135026287	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:135026287C>T	uc001llz.1	+	23	4305	c.4304C>T	c.(4303-4305)aCc>aTc	p.T1435I		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1435					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGCCCCTACACCATTGCTGCC	0.677000														18			13		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66838142	66838142	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:66838142G>A	uc001dcn.3	+	16	2183	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L	PDE4B_uc009war.3_Silent_p.L572L|PDE4B_uc001dco.3_Silent_p.L664L|PDE4B_uc001dcp.3_Silent_p.L649L|PDE4B_uc001dcq.3_Silent_p.L492L|PDE4B_uc009was.3_Silent_p.L431L	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	664					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CACCACCACTGGACGAGCAGA	0.493000														54			66		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143633	55143633	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:55143633G>A	uc002qgj.3	+	5	946	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.S202S|LILRB1_uc002qgk.3_Silent_p.S202S|LILRB1_uc002qgm.3_Silent_p.S202S|LILRB1_uc010erq.3_Silent_p.S202S|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTATGACTCGAACTCTCCCT	0.602000										HNSCC(37;0.09)				88			70		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991392	144991392	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:144991392G>A	uc003zaf.1	-	31	13178	c.13008C>T	c.(13006-13008)tcC>tcT	p.S4336S	PLEC_uc003zab.1_Silent_p.S4199S|PLEC_uc003zac.1_Silent_p.S4203S|PLEC_uc003zad.2_Silent_p.S4199S|PLEC_uc003zae.1_Silent_p.S4167S|PLEC_uc003zag.1_Silent_p.S4177S|PLEC_uc003zah.2_Silent_p.S4185S|PLEC_uc003zaj.2_Silent_p.S4226S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4336	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTGGCGCCCGGAGCGGCGGT	0.632000														35			28		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27361066	27361066	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:27361066G>A	uc002rjb.2	-	2	712	c.132C>T	c.(130-132)ctC>ctT	p.L44L	C2orf53_uc021vfb.1_Silent_p.L44L	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	44	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAGGGAGGGAGGCCCTGAT	0.612000														19			15		0	0	1	0	0
ARL11	115761	broad.mit.edu	37	13	50204770	50204770	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:50204770G>A	uc001vdf.2	+	1	522	c.187G>A	c.(187-189)Gac>Aac	p.D63N	ARL11_uc021rjo.1_Missense_Mutation_p.D63N	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	63					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GACTCTCTGGGACGTTGGGGG	0.592000														51			35		0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859674	132859674	+	Silent	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:132859674A>T	uc011eci.2	+	1	245	c.243A>T	c.(241-243)ggA>ggT	p.G81G		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	82						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TCTTGGTGGGAGTCACTGTGA	0.463000														74			5		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975793	118975793	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:118975793A>G	uc003ibx.3	+	1	1131	c.728A>G	c.(727-729)aAc>aGc	p.N243S	NDST3_uc011cgf.1_Missense_Mutation_p.N243S|NDST3_uc003ibw.3_Missense_Mutation_p.N243S	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	243	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACCCCAGAAAACCTTTCTCCT	0.388000														93			87		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726638	32726638	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32726638G>A	uc003obz.2	-	2	718	c.635C>T	c.(634-636)aCc>aTc	p.T212I	HLA-DQB2_uc003oby.4_Missense_Mutation_p.T212I	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	212					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCACTCCACGGTGATGGGGCT	0.572000														58			21		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43971025	43971025	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:43971025A>G	uc010yny.2	+	22	3535	c.3452A>G	c.(3451-3453)aAc>aGc	p.N1151S		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1151	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATACTTTGAACCAGGACACA	0.393000														54			38		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900038	46900039	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46900038_46900039CC>TT	uc002zhi.3	+	9	1927_1928	c.1906_1907CC>TT	c.(1906-1908)ccc>TTc	p.P636F	COL18A1_uc002zhg.3_Missense_Mutation_p.P456F	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	871	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		gcctccagggcccccaggACCC	0.653000														19			17		0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48837717	48837717	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:48837717G>T	uc004dly.1	-	20	1875	c.1840C>A	c.(1840-1842)Ctc>Atc	p.L614I	GRIPAP1_uc004dlz.3_Missense_Mutation_p.L504I|GRIPAP1_uc004dma.3_Missense_Mutation_p.L535I	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	614						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGCCGCTTGAGGTCCTTGAGC	0.617000														2			6		0.00116845	0.00116974	1	1	0
PLXNC1	10154	broad.mit.edu	37	12	94631572	94631572	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:94631572A>T	uc001tdc.3	+	9	2362	c.2113A>T	c.(2113-2115)Aag>Tag	p.K705*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	705					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACCTGTGATAAGGATGTGTG	0.403000														36			23		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001114	11001114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:11001114G>A	uc002daj.4	+	10	1901	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	CIITA_uc002dai.4_Missense_Mutation_p.E589K|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.E589K|CIITA_uc002dah.2_Missense_Mutation_p.E541K|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	589	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGGGATGACAGAGCACCAAGA	0.607000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									29			13		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482090	76482090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:76482090C>T	uc010dhp.2	-	45	7352	c.7227G>A	c.(7225-7227)tgG>tgA	p.W2409*		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTTATCTGTCCAGGGCAGGA	0.493000														26			31		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114486106	114486106	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:114486106C>T	uc004bfr.3	-	11	1863	c.1728G>A	c.(1726-1728)agG>agA	p.R576R	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.R537R|C9orf84_uc010mug.3_Silent_p.R522R	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	576										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATCTGTTCCCCTTTCCTGAT	0.328000														26			9		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309347	248309347	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248309347G>A	uc010pze.2	+	0	898	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGTGACCAGAGCACTCAGGAA	0.463000														115			35		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767140	77767140	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77767140G>A	uc003yau.2	+	9	8370	c.7983G>A	c.(7981-7983)agG>agA	p.R2661R	ZFHX4_uc003yaw.1_Silent_p.R2616R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2616						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGCGGGAGAGGAAAGGCCAGT	0.527000										HNSCC(33;0.089)				46			35		0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33686385	33686385	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:33686385G>A	uc021wvc.1	-	7	937	c.726C>T	c.(724-726)ttC>ttT	p.F242F	CLASP2_uc021wvb.1_Silent_p.F9F|CLASP2_uc021wvd.1_Silent_p.F242F|CLASP2_uc003cfv.3_Silent_p.F15F|CLASP2_uc011axu.1_Silent_p.F19F|CLASP2_uc003cfw.2_Silent_p.F15F	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	242										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTCATCATCGAAGCTTTTAT	0.378000														8			8		0	0	1	0	0
S100Z	170591	broad.mit.edu	37	5	76173582	76173582	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:76173582C>T	uc003kep.1	+	3	555	c.225C>T	c.(223-225)ttC>ttT	p.F75F	S100Z_uc003keq.4_Silent_p.F75F	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	75	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TTAATGAATTCGTGGTCATGG	0.378000														40			22		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615971	140615971	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140615971C>T	uc003ljc.1	+	0	2034	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCGGGCTGTTCGGCGTGTGGG	0.701000														71			52		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065577	9065577	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9065577G>A	uc002mkp.3	-	2	22073	c.21869C>T	c.(21868-21870)tCc>tTc	p.S7290F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7292	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCAGAGATGGATGTTCTGCT	0.463000														62			32		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039611	2039611	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:2039611C>T	uc003zhc.3	+	3	600	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SMARCA2_uc003zhd.3_Silent_p.P167P|SMARCA2_uc010mha.3_Silent_p.P158P	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	167					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAGCCAGCCCAACAGAGGTC	0.602000														64			6		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750482	79750482	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:79750482C>T	uc002bew.1	+	1	2068	c.1993C>T	c.(1993-1995)Cac>Tac	p.H665Y	KIAA1024_uc010unk.1_Missense_Mutation_p.H665Y	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	665						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCGGATGTTCCACGCACACAG	0.562000														104			88		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764655	82764655	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82764655T>C	uc003uhx.2	-	2	2500	c.2211A>G	c.(2209-2211)gaA>gaG	p.E737E	PCLO_uc003uhv.2_Silent_p.E737E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	683	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGACAGAAGGTTCTTTGGGAG	0.522000														27			22		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688881	55688881	+	Missense_Mutation	SNP	G	A	A	rs142751888	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55688881G>A	uc010sph.2	-	0	136	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGCAGGGTGAGGATGATGATG	0.418000														50			35		0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773019	113773019	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:113773019G>A	uc001vsv.3	+	8	1149	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	F7_uc001vsw.3_Missense_Mutation_p.M344I|F7_uc010tjt.2_Missense_Mutation_p.M297I	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	366	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCGGCTGATGACCCAGGACT	0.632000														25			13		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39801155	39801155	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:39801155C>T	uc002xjp.1	+	25	3121	c.3000C>T	c.(2998-3000)ttC>ttT	p.F1000F	PLCG1_uc002xjo.1_Silent_p.F1000F|PLCG1_uc010zwe.1_Silent_p.F626F	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1000	PI-PLC Y-box.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAAGAAGTTCCTTCAGTACA	0.542000														30			23		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409123	130409123	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:130409123C>T	uc004ewe.4	-	16	3620	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	IGSF1_uc004ewd.3_Missense_Mutation_p.E1108K|IGSF1_uc022cdv.1_Missense_Mutation_p.E1099K|IGSF1_uc004ewf.2_Missense_Mutation_p.E1088K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1108	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCTGTTGCTCTAAAGGCTCC	0.512000														20			129		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473590	141473590	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:141473590G>A	uc002tvj.1	-	36	6947	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1992					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGCCTTGGGAAATAATTAC	0.353000										TSP Lung(27;0.18)				73			52		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816458	43816458	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43816458G>A	uc001zrt.3	+	3	3254	c.2787G>A	c.(2785-2787)ggG>ggA	p.G929G		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	929						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGATCATAGGGAAAGGCTTGT	0.502000														42			48		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66515031	66515031	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:66515031C>T	uc003tvn.3	+	7	1229	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	360					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTCCTGCTCTCCGAGAAGCCC	0.413000														43			34		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409656	159409656	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159409656C>T	uc010piv.2	+	0	145	c.108C>T	c.(106-108)atC>atT	p.I36I	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	36					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGCAGCAGATCACCCTTTTTG	0.413000														205			70		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784369	82784369	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82784369G>A	uc003uhx.2	-	1	1877	c.1588C>T	c.(1588-1590)Cca>Tca	p.P530S	PCLO_uc003uhv.2_Missense_Mutation_p.P530S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	476	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGAGATGGGGGTTTTGTT	0.557000														168			124		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585285	41585285	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:41585285C>T	uc002idu.1	+	14	2290	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	DHX8_uc010wif.1_Nonsense_Mutation_p.R649*|DHX8_uc010wig.2_Nonsense_Mutation_p.R740*	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	740						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CATCCCAGGTCGAACATATCC	0.443000														63			48		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	A	A	rs146975565		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:71740883G>A	uc002llf.2	-	9	1426	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.S373L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	373										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTGGCAGGCGATCTCAGGCA	0.502000														220			93		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224643	2224643	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:2224643C>T	uc009zdu.1	+	1	616	c.303C>T	c.(301-303)ccC>ccT	p.P101P	CACNA1C_uc001qkc.2_Silent_p.P101P|CACNA1C_uc001qjz.2_Silent_p.P101P|CACNA1C_uc001qkd.2_Silent_p.P101P|CACNA1C_uc001qke.2_Silent_p.P101P|CACNA1C_uc001qkf.2_Silent_p.P101P|CACNA1C_uc009zdw.1_Silent_p.P101P|CACNA1C_uc001qkg.2_Silent_p.P101P|CACNA1C_uc001qkh.2_Silent_p.P101P|CACNA1C_uc001qkl.2_Silent_p.P101P|CACNA1C_uc001qkj.2_Silent_p.P101P|CACNA1C_uc001qkk.2_Silent_p.P101P|CACNA1C_uc001qkn.2_Silent_p.P101P|CACNA1C_uc001qkm.2_Silent_p.P101P|CACNA1C_uc001qko.2_Silent_p.P101P|CACNA1C_uc001qkp.2_Silent_p.P101P|CACNA1C_uc001qkq.2_Silent_p.P101P|CACNA1C_uc001qku.2_Silent_p.P101P|CACNA1C_uc001qkr.2_Silent_p.P101P|CACNA1C_uc001qks.2_Silent_p.P101P|CACNA1C_uc001qkt.2_Silent_p.P101P|CACNA1C_uc009zdv.1_Silent_p.P101P|CACNA1C_uc001qkb.2_Silent_p.P101P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	101					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.P101P(3)|p.A101E(1)|p.P131P(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACGCCCGCCCCGAGCCCTGC	0.617000														51			4		0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104758	44104758	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:44104758G>A	uc003tjs.3	-	0	429	c.371C>T	c.(370-372)cCc>cTc	p.P124L		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	124	Poly-Pro.				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GTCCATCGGGGGCGGCGGGAT	0.632000														22			17		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225651759	225651759	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:225651759G>A	uc010fwz.1	-	49	5874	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	DOCK10_uc002vob.2_Missense_Mutation_p.R1873C|DOCK10_uc002voa.2_Missense_Mutation_p.R535C|DOCK10_uc002voc.2_Missense_Mutation_p.R700C	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1879	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATGCCACACGATAGTAGCGA	0.433000														67			14		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193523	179193523	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:179193523T>A	uc003mkm.3	+	1	1775	c.1512T>A	c.(1510-1512)aaT>aaA	p.N504K	MAML1_uc003mkn.1_Missense_Mutation_p.N504K	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	504					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCGCGAATAACCAGGGGT	0.582000														36			21		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269303	20269303	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20269303C>T	uc002wru.3	+	22	2961	c.2847C>T	c.(2845-2847)gcC>gcT	p.A949A	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	949										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGTTTAAAGCCCTCAATGATG	0.408000														118			92		0	0	1	0	0
CALML4	91860	broad.mit.edu	37	15	68491924	68491924	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:68491924G>A	uc002arb.3	-	2	993	c.259C>T	c.(259-261)Ccg>Tcg	p.P87S	CALML4_uc002arc.3_Intron|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Intron|CALML4_uc010bhz.3_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	87	EF-hand 2.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CCTGGCGTCGGGCTGGCCCCC	0.637000														71			44		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867604	29867604	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29867604G>A	uc002kxl.3	-	3	1012	c.956C>T	c.(955-957)cCc>cTc	p.P319L	FAM59A_uc002kxk.2_Missense_Mutation_p.P319L	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	319	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CAGGGTTTCGGGCCAGCTCTC	0.532000														45			70		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687434	18687434	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:18687434G>A	uc003sui.3	+	8	1103	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	HDAC9_uc003sue.3_Silent_p.Q351Q|HDAC9_uc011jyd.2_Silent_p.Q351Q|HDAC9_uc003suh.3_Silent_p.Q351Q|HDAC9_uc003suj.3_Silent_p.Q310Q|HDAC9_uc011jya.2_Silent_p.Q349Q|HDAC9_uc003sua.1_Silent_p.Q329Q|HDAC9_uc003sud.2_Silent_p.Q351Q|HDAC9_uc011jyc.2_Silent_p.Q310Q|HDAC9_uc011jyb.2_Silent_p.Q307Q|HDAC9_uc003suf.2_Silent_p.Q382Q|HDAC9_uc010kud.2_Silent_p.Q354Q|HDAC9_uc011jye.2_Silent_p.Q323Q|HDAC9_uc011jyf.2_Silent_p.Q274Q|HDAC9_uc010kue.1_Silent_p.Q94Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	351					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGAAAAGCAGAAGTGTGAGA	0.473000														7			6		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533514	71533514	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:71533514C>T	uc009zrt.1	-	2	400	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	TSPAN8_uc001swk.1_Missense_Mutation_p.E80K|TSPAN8_uc001swj.1_Missense_Mutation_p.E80K	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	80					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CAGCGACTTTCTTTTATAGCA	0.473000														208			34		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2965247	2965247	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:2965247G>A	uc022aqr.1	-	44	7218	c.6828C>T	c.(6826-6828)ttC>ttT	p.F2276F	CSMD1_uc011kwj.2_Silent_p.F1669F|CSMD1_uc010lrg.3_Silent_p.F345F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2277	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCTATTTCGAAATCATCAT	0.358000														39			13		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175449	133175449	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:133175449G>A	uc002ttl.3	+	0	1303	c.834G>A	c.(832-834)agG>agA	p.R278R		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	278						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACCGCCAGGAGGCAGACCA	0.642000														40			29		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291710	163291710	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:163291710C>T	uc002uch.2	-	7	2181	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	KCNH7_uc002uci.3_Missense_Mutation_p.G644D	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	651					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTACTTACAGCCAATCAACAT	0.328000														46			33		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73167935	73167935	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:73167935C>T	uc004aid.3	-	22	3607	c.3363G>A	c.(3361-3363)tcG>tcA	p.S1121S	TRPM3_uc004ahu.3_Silent_p.S963S|TRPM3_uc004ahv.3_Silent_p.S923S|TRPM3_uc004ahw.3_Silent_p.S993S|TRPM3_uc004ahx.3_Silent_p.S980S|TRPM3_uc004ahy.3_Silent_p.S983S|TRPM3_uc004ahz.3_Silent_p.S970S|TRPM3_uc004aia.3_Silent_p.S968S|TRPM3_uc004aib.3_Silent_p.S958S|TRPM3_uc004aic.3_Silent_p.S1121S	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1146						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGTTGGATATCGATTTTACTT	0.433000														64			65		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109604784	109604784	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:109604784C>T	uc001tob.3	+	2	891	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	ACACB_uc001toc.3_Missense_Mutation_p.R258W	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	258					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGGGGGGATCGGGTCATCGA	0.612000														36			26		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777662	43777662	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:43777662C>T	uc010skx.2	-	29	4571	c.4571G>A	c.(4570-4572)cGa>cAa	p.R1524Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1524	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTCCAACATCGCCTCTGAGA	0.468000														63			43		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47753016	47753016	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:47753016C>T	uc009ylv.3	-	11	2071	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	FNBP4_uc001ngj.3_Missense_Mutation_p.E547K|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	640										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTCTATTTTCTTGTGCTTGG	0.428000														67			60		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121412104	121412104	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:121412104G>A	uc003pyo.1	-	30	3617	c.3549C>T	c.(3547-3549)ttC>ttT	p.F1183F		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1183	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CAGGACCAAGGAAAACACAAG	0.343000														80			66		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154567818	154567818	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:154567818C>T	uc021zhc.1	-	14	2041	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpw.3_Silent_p.K51K|CNKSR3_uc003qpx.3_Silent_p.K50K|CNKSR3_uc010kjh.3_Silent_p.K51K|CNKSR3_uc021zhd.1_Silent_p.K95K|CNKSR3_uc021zhe.1_Intron	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	290	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTTCCTTTTTCTTATACAGCC	0.443000														97			64		0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37135774	37135774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:37135774G>A	uc001wty.4	+	3	1465	c.739G>A	c.(739-741)Gga>Aga	p.G247R	PAX9_uc010amq.3_Non-coding_Transcript	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	247					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GTTGGAGAAGGGAGCCCTGGA	0.677000														1			5		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150911442	150911442	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:150911442C>T	uc003eyp.3	+	13	2263	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	MED12L_uc011bnz.2_Missense_Mutation_p.P572S|MED12L_uc003eyn.3_Missense_Mutation_p.P747S|MED12L_uc003eyo.3_Missense_Mutation_p.P712S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	712					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACACATTTTCCTATACCTCT	0.338000														63			40		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17826103	17826103	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:17826103G>A	uc003ncg.4	-	15	1842	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	KIF13A_uc003ncf.3_Missense_Mutation_p.P561L|KIF13A_uc003nch.4_Missense_Mutation_p.P561L|KIF13A_uc003nci.4_Missense_Mutation_p.P561L|KIF13A_uc003ncj.3_Missense_Mutation_p.P237L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	561					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.P561Q(3)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGCTCTGGCGGGCCCGTTTC	0.418000														139			49		0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858424	4858424	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4858424G>A	uc010vst.2	+	1	189	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ENO3_uc010vsr.2_Missense_Mutation_p.E74K|ENO3_uc002gab.4_Missense_Mutation_p.E167K|ENO3_uc002gac.4_Missense_Mutation_p.E167K|ENO3_uc010vss.2_Missense_Mutation_p.E124K	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	167					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGCCATGCAGGAGTTCATGAT	0.597000														41			18		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762051	130762051	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:130762051G>A	uc003qcb.3	+	1	2862	c.484G>A	c.(484-486)Gat>Aat	p.D162N	TMEM200A_uc003qca.3_Missense_Mutation_p.D162N|TMEM200A_uc010kfh.3_Missense_Mutation_p.D162N|TMEM200A_uc010kfi.3_Missense_Mutation_p.D162N|TMEM200A_uc021zfg.1_Missense_Mutation_p.D162N	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	162						integral to membrane		p.R161S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACATGAGGGATATCTATTC	0.408000														57			32		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91203550	91203550	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:91203550C>T	uc001kgm.3	-	3	568	c.267G>A	c.(265-267)tgG>tgA	p.W89*		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	59						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGGAATGGATCCATGCCGTTT	0.378000														26			23		0	0	1	0	0
EXOSC3	51010	broad.mit.edu	37	9	37785066	37785066	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:37785066C>T	uc004aal.2	-	1	1	c.-25_splice	c.e1-1		EXOSC3_uc010mly.1_Splice_Site|EXOSC3_uc004aam.2_Splice_Site	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.						CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		AACACCGTTTCCGGTACCCGC	0.632000														8			4		0	0	1	0	0
DR1	1810	broad.mit.edu	37	1	93812348	93812348	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:93812348T>C	uc001dpu.3	+	0	871	c.146T>C	c.(145-147)cTt>cCt	p.L49P	LOC100131564_uc001dpt.2_5'Flank	NM_001938	NP_001929	Q01658	NC2B_HUMAN	Homo sapiens down-regulator of transcription 1, TBP-binding (negative cofactor 2) (DR1), mRNA.	49					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding|sequence-specific DNA binding|transcription corepressor activity			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TTCATTCACCTTATATCTTCT	0.443000														62			14		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:106899195G>A	uc001kyi.1	+	7	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	418						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTCTTATCGAAGAGAGGCC	0.502000														61			42		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942286	22942286	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22942286C>T	uc021urt.1	-	3	580	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATATTTTTCCCTGGGTAGT	0.284000														25			14		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964219	123964219	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:123964219G>A	uc022bag.1	+	0	469	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ZHX2_uc003ypk.1_Missense_Mutation_p.E157K	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	157						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGTCCATCGAAACCACCAA	0.507000														62			54		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193159356	193159356	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:193159356C>T	uc003ftd.3	-	19	2446	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	ATP13A4_uc003fte.1_Missense_Mutation_p.D780N|ATP13A4_uc011bsr.1_Missense_Mutation_p.D251N|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	780					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GAGACTTCATCCCTGATGTTA	0.373000														52			42		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33667465	33667465	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:33667465C>T	uc021qfs.1	+	15	4876	c.4752C>T	c.(4750-4752)caC>caT	p.H1584H		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1584						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CAGCCCAGCACCTGCCCTATT	0.682000														16			15		0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478829	78478829	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:78478829C>T	uc001dij.3	+	1	465	c.306C>T	c.(304-306)ttC>ttT	p.F102F	DNAJB4_uc010orn.2_5'UTR	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	102					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTGCATTTTTCGGAGGGTCCA	0.453000														116			55		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101753175	101753175	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:101753175C>T	uc001vox.1	-	26	3311	c.3122G>A	c.(3121-3123)gGa>gAa	p.G1041E		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1041						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCCAGTTTTCCAGCAAAAAG	0.368000														33			16		0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7022029	7022029	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7022029C>T	uc001qrt.4	+	6	1286	c.894C>T	c.(892-894)taC>taT	p.Y298Y	LRRC23_uc001qrp.3_Silent_p.Y298Y|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	298	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGATGCCATACCTTGAACGCC	0.572000														106			74		0	0	1	0	0
GCET2	257144	broad.mit.edu	37	3	111844099	111844099	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111844099C>T	uc021xcl.1	-	4	384	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Missense_Mutation_p.E65K|GCET2_uc021xcm.1_Missense_Mutation_p.E50K	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	65						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GACATTCTTTCATCTGGAGAA	0.373000														44			22		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942959	10942959	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:10942959G>A	uc002yip.1	-	11	996	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H192Y|TPTE_uc002yir.1_Missense_Mutation_p.H172Y|TPTE_uc010gkv.1_Missense_Mutation_p.H72Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	210					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTTTTGATGAAACAGATGA	0.323000														167			14		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692165	116692165	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:116692165G>A	uc001pps.1	-	2	713	c.609C>T	c.(607-609)ccC>ccT	p.P203P		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGTCAGCGTAGGGCGTAAGGC	0.622000														129			105		0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16714191	16714191	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:16714191C>T	uc003stj.2	+	2	375	c.213C>T	c.(211-213)atC>atT	p.I71I	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stl.2_Silent_p.I71I|BZW2_uc003stm.2_5'UTR|BZW2_uc003stn.1_Silent_p.I71I|BZW2_uc003sto.1_5'UTR	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	71					RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCTTCGATATCCTGGTGGCTG	0.383000														41			34		0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75907426	75907426	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:75907426G>A	uc002sno.3	-	11	1835	c.1705C>T	c.(1705-1707)Ctt>Ttt	p.L569F	GCFC2_uc010ffs.3_Missense_Mutation_p.L131F|GCFC2_uc002snn.3_Missense_Mutation_p.L400F|GCFC2_uc010fft.3_Missense_Mutation_p.L244F	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	569					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L569I(1)									GGATCCCAAAGGAATTCTACA	0.313000														45			24		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658926	142658926	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142658926C>T	uc003wcb.3	-	1	247	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	13					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.E13K(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGCTGCGTTCCCTCGGCTCT	0.547000														159			88		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157273	75157273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:75157273G>A	uc003yae.3	-	3	1436	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	JPH1_uc003yaf.3_Missense_Mutation_p.P466S|JPH1_uc003yag.1_Missense_Mutation_p.P330S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	466					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTTGCCTCAGGAGATCTTGGG	0.502000														83			53		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67425032	67425032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:67425032C>T	uc002lkl.3	+	6	976	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	260							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTATCCAAATCAATATCTCTT	0.388000														148			9		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515291	140515291	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140515291G>A	uc003liq.3	+	0	492	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	92	Cadherin 1.				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)			AAACTAGACCGGGAGGTGATG	0.463000														57			49		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24880379	24880379	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:24880379G>A	uc003sxf.3	-	13	1830	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.V439V|OSBPL3_uc003sxh.3_Silent_p.V444V|OSBPL3_uc003sxi.3_Silent_p.V408V|OSBPL3_uc003sxj.1_Silent_p.V204V|OSBPL3_uc003sxk.1_Silent_p.V173V	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	475					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTATGTCACTGACATATGAGT	0.299000														25			20		0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647340	125647340	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:125647340C>T	uc001qcu.3	-	3	325	c.279G>A	c.(277-279)acG>acA	p.T93T	PATE2_uc010sbj.2_Silent_p.T50T	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	93						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTACCCTCTTCGTGAACCCCA	0.448000														51			30		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28260046	28260046	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:28260046G>A	uc001zbh.4	-	8	1030	c.920C>T	c.(919-921)tCc>tTc	p.S307F	OCA2_uc010ayv.3_Missense_Mutation_p.S307F	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	307					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCTGCAGGGAGGCCCGGAT	0.577000									Oculocutaneous Albinism					26			14		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628617	71628617	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:71628617G>A	uc004agy.3	-	0	423	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	131	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTGTAGGCGGGAGAACATCTC	0.587000														51			26		0	0	1	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499227	34499227	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:34499227G>A	uc002hky.2	-	6	634	c.484C>T	c.(484-486)Cga>Tga	p.R162*	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562000														428			82		0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38288302	38288302	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:38288302G>A	uc001cce.1	-	8	1399	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S	MTF1_uc009vvj.1_Missense_Mutation_p.P111S	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	420	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTACAAGTGGAAGAGATAAA	0.537000														62			21		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825509	26825509	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:26825509G>A	uc001zbb.3	-	6	910	c.807C>T	c.(805-807)atC>atT	p.I269I	GABRB3_uc021sgg.1_Silent_p.I142I|GABRB3_uc021sgh.1_Silent_p.I128I|GABRB3_uc001zaz.3_Silent_p.I213I|GABRB3_uc001zba.3_Silent_p.I213I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	213					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGCTCCACGATGGAGAACT	0.567000														53			44		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148384386	148384386	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:148384386G>A	uc003lpu.3	-	16	3907	c.3755C>T	c.(3754-3756)aCc>aTc	p.T1252I	SH3TC2_uc003lpp.1_Intron|SH3TC2_uc010jgw.3_Missense_Mutation_p.T896I|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.T799I|SH3TC2_uc010jgx.3_Missense_Mutation_p.T1245I	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	1252							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCTAATGGTGTCCTGAAG	0.642000														32			18		0	0	1	0	0
ACTR6	64431	broad.mit.edu	37	12	100603890	100603890	+	Missense_Mutation	SNP	C	T	T	rs142634632		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100603890C>T	uc001thb.1	+	4	475	c.419C>T	c.(418-420)cCt>cTt	p.P140L	ACTR6_uc001thc.1_Missense_Mutation_p.P32L|ACTR6_uc009ztu.2_Intron|ACTR6_uc001the.1_Missense_Mutation_p.P58L|AX746635_uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	Homo sapiens ARP6 actin-related protein 6 homolog (yeast) (ACTR6), mRNA.	140						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CGAGATAATCCTTCCGAATTA	0.294000														61			48		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73347911	73347911	+	Missense_Mutation	SNP	G	A	A	rs146500302		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:73347911G>A	uc001vix.4	-	7	1524	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	DIS3_uc001viy.4_Missense_Mutation_p.R354C|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	384					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GTTTCTATGCGAATTCGAGGG	0.373000										Multiple Myeloma(4;0.011)				36			31		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174531	23174531	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:23174531G>A	uc003xdh.1	-	8	1906	c.1567C>T	c.(1567-1569)Cac>Tac	p.H523Y	LOXL2_uc010lty.1_Missense_Mutation_p.H62Y	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	523	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCCCCGTCGTGGCGGCAGTGC	0.652000														26			18		0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994267	208994267	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:208994267G>T	uc002vco.4	-	1	188	c.150C>A	c.(148-150)aaC>aaA	p.N50K	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	50	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GACCTTGGTAGTTGGGACGCT	0.597000														101			56		3.89483e-19	3.95329e-19	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159284008	159284008	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159284008C>T	uc010piu.2	-	0	442	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147C(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCCAGTGATCCAGAGGCCAGT	0.517000														99			24		0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734219	37734219	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:37734219A>T	uc002oft.1	+	7	1661	c.1081A>T	c.(1081-1083)Act>Tct	p.T361S	ZNF383_uc002ofs.1_Missense_Mutation_p.T296S|ZNF383_uc002ofu.1_Missense_Mutation_p.T361S	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAATTCACACTGGTGAGAA	0.433000														42			31		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548908	7548908	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7548908G>A	uc010sge.2	-	7	1889	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	CD163L1_uc001qsy.3_Silent_p.G611G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	611	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.V620M(1)|p.C621*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TACTGTTCCAGCCGTCATCAC	0.557000														28			20		0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92000	92000	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:92000A>T	uc010sdi.1	-	1	338	c.310T>A	c.(310-312)Ttg>Atg	p.L104M	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GGTCCTGGCAACACTCTGGAC	0.572000														10			3		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493471	101493471	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:101493471G>A	uc010svm.1	+	21	2694	c.2122G>A	c.(2122-2124)Gga>Aga	p.G708R	ANO4_uc001thw.2_Missense_Mutation_p.G673R|ANO4_uc001thx.2_Missense_Mutation_p.G708R|ANO4_uc001thy.2_Missense_Mutation_p.G228R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	708						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAATGCCTATGGACTCTTCGA	0.333000										HNSCC(74;0.22)				37			40		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31632894	31632894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:31632894G>A	uc001rkh.1	-	4	789	c.638C>T	c.(637-639)tCc>tTc	p.S213F	DENND5B_uc001rki.1_Missense_Mutation_p.S178F|DENND5B_uc001rkj.3_Missense_Mutation_p.S200F|DENND5B_uc001rkk.1_Missense_Mutation_p.S100F	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	178	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AATATCATAGGAGTTGTATCG	0.418000														57			34		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38224644	38224644	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:38224644A>C	uc002rqn.2	+	7	1691	c.1565A>C	c.(1564-1566)cAc>cCc	p.H522P	FAM82A1_uc002rqk.1_Missense_Mutation_p.H199P|FAM82A1_uc002rql.3_Missense_Mutation_p.H344P|FAM82A1_uc021vga.1_Missense_Mutation_p.H344P|FAM82A1_uc002rqm.3_Missense_Mutation_p.H199P	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	344						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GAAGCTTTACACAATTTCCTT	0.383000														44			34		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109399125	109399125	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:109399125C>T	uc002tem.4	+	27	9302	c.9176C>T	c.(9175-9177)tCa>tTa	p.S3059L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	3059					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAGAATTATCAAAGGAGACC	0.388000														99			66		0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521419	40521419	+	Missense_Mutation	SNP	C	T	T	rs147930313		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:40521419C>T	uc002oms.2	+	6	2498	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	ZNF546_uc002omt.2_Missense_Mutation_p.P722S	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTGAGAAACCTTATAGCTG	0.398000														65			52		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37687441	37687441	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:37687441C>T	uc003xkj.3	+	5	1013	c.627C>T	c.(625-627)tcC>tcT	p.S209S	GPR124_uc010lvy.3_Silent_p.S209S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	209	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGAATCGCTCCCTGCAGCTGT	0.672000														16			9		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169105716	169105716	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:169105716G>A	uc003irm.3	+	10	954	c.790G>A	c.(790-792)Ggt>Agt	p.G264S	ANXA10_uc003irn.3_Missense_Mutation_p.G136S	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	264							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TTAGGACTTTGGTTTCCATAA	0.398000														78			60		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611760	50611760	+	Silent	SNP	C	T	T	rs74987565	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:50611760C>T	uc003tpg.4	-	1	225	c.24G>A	c.(22-24)agG>agA	p.R8R	DDC_uc022ade.1_Silent_p.R8R|DDC_uc003tpf.4_Silent_p.R8R|DDC_uc022adb.1_Silent_p.R8R|DDC_uc022adc.1_Silent_p.R8R|DDC_uc022add.1_Silent_p.R8R|DDC_uc022adf.1_Silent_p.R8R	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	8					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCTTCCCTCTCCTTCGGAATT	0.522000														103			86		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007852	110007852	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:110007852C>T	uc010rwc.2	+	1	489	c.489C>T	c.(487-489)taC>taT	p.Y163Y	ZC3H12C_uc009yxw.3_Silent_p.Y162Y|ZC3H12C_uc010rwd.2_Silent_p.Y163Y|ZC3H12C_uc001pkr.4_Silent_p.Y131Y|ZC3H12C_uc001pkq.2_Silent_p.Y131Y	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	162							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGCGAGAATACCAAACAAAAC	0.378000														14			20		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317545	103317545	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:103317545G>A	uc002tca.3	+	7	1745	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	535						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAAGTTTGATGATAAATATCT	0.299000														28			11		0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71391539	71391539	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:71391539G>A	uc001jpq.4	+	2	210	c.40G>A	c.(40-42)Gac>Aac	p.D14N		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA.	14						integral to membrane		p.D14D(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CGTGCAGGATGACGACCCCCG	0.602000														10			6		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664561	169664561	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:169664561G>A	uc011bpp.2	-	1		c.3242C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		ATAGCTGGAGGGACCTCACTT	0.517000														15			12		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36484872	36484872	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36484872G>A	uc003cgh.1	+	1	167	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.R43Q	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	43					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.R43Q(4)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAACTAAAACGATCACTTTCT	0.468000														32			24		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119232	9119232	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:9119232C>T	uc003jek.2	-	14	2515	c.1803G>A	c.(1801-1803)tgG>tgA	p.W601*		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	601	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACGAGGTCCAGGGAGTCC	0.652000														19			8		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639326	6639326	+	Silent	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:6639326C>A	uc001ant.3	+	5	2304	c.2208C>A	c.(2206-2208)ggC>ggA	p.G736G	TAS1R1_uc001anu.3_Silent_p.G482G|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	736					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCTACAATGGCCTCCTCTCCA	0.547000														10			27		4.7796e-09	4.80626e-09	1	1	0
HNRNPM	4670	broad.mit.edu	37	19	8530370	8530370	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8530370A>G	uc010dwe.3	+	5	681	c.601A>G	c.(601-603)Aga>Gga	p.R201G	HNRNPM_uc010dwc.1_Missense_Mutation_p.R201G|HNRNPM_uc010xke.1_Missense_Mutation_p.R162G|HNRNPM_uc010dwd.3_Missense_Mutation_p.R162G|HNRNPM_uc002mka.3_Missense_Mutation_p.R81G	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	201					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ACAGGCTGGAAGACTTGGAAG	0.393000														81			49		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41587911	41587911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:41587911G>A	uc010skn.2	+	2	772	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	255	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCGACTGAAGGAATTTACGTT	0.318000														24			7		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38828899	38828899	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:38828899G>A	uc010ifg.2	-	1	2317	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	TLR6_uc003gtm.3_Silent_p.I732I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	732	TIR.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTAAGATGAGGATTAAGTTAT	0.448000														101			86		0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879826	1879826	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:1879826G>A	uc003jcz.2	-	3	647	c.528C>T	c.(526-528)atC>atT	p.I176I	IRX4_uc011cmf.1_Silent_p.I37I	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	176					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGGCCAGCATGATCTTCTCGC	0.642000														73			38		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69127276	69127276	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:69127276C>T	uc001suf.3	+	23	2261	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	NUP107_uc001sug.3_Missense_Mutation_p.P475S|NUP107_uc010stj.2_Missense_Mutation_p.P687S	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	716					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTGAAAATTCCTCAGGATTC	0.378000														58			41		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39671853	39671853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39671853G>A	uc002hwy.3	-	5	1309	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	KRT15_uc002hwz.3_Missense_Mutation_p.A275V|KRT15_uc002hxa.3_Missense_Mutation_p.A208V|KRT15_uc002hxb.1_Missense_Mutation_p.A208V	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	373	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTCAGCTGGGCCTCCAGGCC	0.592000														56			34		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195365	124195365	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:124195365C>T	uc003ypv.3	+	1	2283	c.269C>T	c.(268-270)gCa>gTa	p.A90V	FAM83A_uc003ypw.3_Missense_Mutation_p.A90V|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.A90V|FAM83A_uc003ypy.3_Missense_Mutation_p.A90V|FAM83A_uc003ypz.3_Missense_Mutation_p.A90V	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	90										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGGGCGGAAGCAGGCCCTAAG	0.677000														36			23		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79440614	79440614	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:79440614G>T	uc003hlb.2	+	66	10959	c.10519G>T	c.(10519-10521)Gac>Tac	p.D3507Y		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3502					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTTCTTCTATGACACTGTTCT	0.478000														115			77		2.08937e-45	2.12712e-45	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228153875	228153875	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228153875G>A	uc002vom.2	+	34	3053	c.2891G>A	c.(2890-2892)gGa>gAa	p.G964E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	964	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGATTCGCAGGAAATCCAGGT	0.527000														13			12		0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37665691	37665691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:37665691G>A	uc004ddr.2	+	10	1427	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	CYBB_uc011mkf.1_Missense_Mutation_p.D424N|CYBB_uc011mkg.1_Missense_Mutation_p.D189N	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	456					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTGGTTTGCAGATCTGCTGCA	0.507000														6			29		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605360	90605361	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:90605360_90605361CC>TT	uc011eaa.2	+	0	1173_1174	c.1173_1174CC>TT	c.(1171-1176)gaccca>gaTTca	p.P392S		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	392					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.D391N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AGTCCCAGGACCCAGAACCCTC	0.535000														63			38		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855065	189855065	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:189855065C>T	uc002uqj.1	+	9	894	c.777C>T	c.(775-777)ttC>ttT	p.F259F	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	259	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TACCTGGATTCCCTGGTATGA	0.348000														23			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473046	22473046	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22473046C>T	uc001yuj.2	-	6		c.282G>A								Parts of antibodies, mostly variable regions.																		AGTTGGGGCTCCCACTATGAT	0.572000														200			37		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169831265	169831265	+	Silent	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:169831265G>T	uc003fgl.2	-	10	2270	c.2236C>A	c.(2236-2238)Cgg>Agg	p.R746R	PHC3_uc010hws.1_Silent_p.R734R|PHC3_uc011bpq.1_Silent_p.R693R	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	734					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AAAAGAGGCCGTTTTTTCACA	0.358000														26			10		4.68919e-08	4.71358e-08	1	1	0
RBMX2	51634	broad.mit.edu	37	X	129537820	129537820	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:129537820T>C	uc004evt.3	+	2	230	c.166T>C	c.(166-168)Ttc>Ctc	p.F56L		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	56	RRM.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CATCTGTGTGTTCTCACAGTA	0.403000														20			182		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915874	7915874	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7915874G>A	uc002gjt.2	+	9	2137	c.2063G>A	c.(2062-2064)gGg>gAg	p.G688E		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	688	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CACGGCCACGGGAGACTGCTG	0.582000														60			47		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117647613	117647613	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117647613C>T	uc001prh.1	-	2	586	c.584G>A	c.(583-585)aGg>aAg	p.R195K	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	135	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACGCATTGACCTTTGATCCTC	0.532000														28			24		0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145913020	145913020	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:145913020C>T	uc010huy.3	-	7	1165	c.836G>A	c.(835-837)tGg>tAg	p.W279*	PLSCR4_uc010huz.3_Nonsense_Mutation_p.W279*|PLSCR4_uc003evt.4_Nonsense_Mutation_p.W279*|PLSCR4_uc010hva.3_Nonsense_Mutation_p.W189*|PLSCR4_uc003evu.4_Nonsense_Mutation_p.W174*	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	279					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAAACCATTCCACTTCCGGAT	0.428000														42			35		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477268	21477268	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:21477268G>A	uc002npq.1	-	3	698	c.500C>T	c.(499-501)cCt>cTt	p.P167L	ZNF708_uc002npr.1_Missense_Mutation_p.P103L|ZNF708_uc010ecs.1_Missense_Mutation_p.P103L	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACATTTGAAAGGATTTTTTCC	0.323000														73			9		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113364747	113364747	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113364747G>A	uc003ynu.3	-	38	6312	c.6153C>T	c.(6151-6153)tcC>tcT	p.S2051S	CSMD3_uc003yns.3_Silent_p.S1253S|CSMD3_uc003ynt.3_Silent_p.S2011S|CSMD3_uc011lhx.2_Silent_p.S1947S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2051	Sushi 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCAGGACAGGAATCCAAAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				84			47		0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62362495	62362495	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62362495G>A	uc001ntq.2	-	14	1921	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S	MTA2_uc010rlx.1_Missense_Mutation_p.P338S	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	511					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CGCACCAGAGGGTGAATCTTC	0.542000														126			73		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89998001	89998001	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:89998001G>A	uc001tbh.3	-	14	2746	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	ATP2B1_uc001tbg.3_Silent_p.F855F|ATP2B1_uc001tbf.3_Silent_p.F525F	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	855					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGAACTGAAGGAATTTTGAGA	0.383000														40			26		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597792	41597792	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:41597792C>T	uc002opt.3	+	4	819	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.S270S(2)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCATCGACTCCTTTCTCATCC	0.592000														45			24		0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167571311	167571311	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:167571311G>A	uc011egq.2	-	0	9	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	3						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCAGTTTGGGAATGGCATCA	0.602000														10			6		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43222323	43222323	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43222323G>A	uc003ouq.1	+	5	789	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	170	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Y169C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCACCTACAGGAAGTGCTATA	0.662000														82			19		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53240568	53240568	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53240568C>T	uc001sbc.1	-	2	704	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	214	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity	p.N213N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCACAAAGTCGTTCTCAAGT	0.567000														17			14		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509642	23509642	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:23509642G>A	uc003jgo.3	+	2	315	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	45	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGATGGGAGACTGGGAGAA	0.433000										HNSCC(3;0.000094)				98			83		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1256389	1256389	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1256389A>G	uc001lta.3	+	21	2764	c.2705A>G	c.(2704-2706)cAc>cGc	p.H902R	MUC5B_uc009yct.2_Missense_Mutation_p.H902R	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	902	VWFC 1.|VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGGATGGCCACTTCATCACC	0.662000														33			20		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94568678	94568678	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94568678C>T	uc001dqh.3	-	4	567	c.463G>A	c.(463-465)Gat>Aat	p.D155N	ABCA4_uc010otn.1_Missense_Mutation_p.D155N	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	155					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCAAGATATCCCTTATTCGT	0.408000														176			36		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141325150	141325150	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:141325150C>T	uc003llx.3	-	3	4562	c.3351G>A	c.(3349-3351)ctG>ctA	p.L1117L		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	1117					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCATCTCCAGCAGTGAGC	0.647000														39			19		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363832	72363833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:72363832_72363833GG>AA	uc021ucp.1	+	0	188_189	c.179_180GG>AA	c.(178-180)ggg>gAA	p.G60E	GPR142_uc010wqy.2_Missense_Mutation_p.G63E	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	63						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.G63V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAGGTCACAGGGGGAAGCTGGG	0.550000														34			16		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170732	167170732	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:167170732C>T	uc003fes.1	-	5	1057	c.986G>A	c.(985-987)gGa>gAa	p.G329E	SERPINI2_uc003fer.1_Missense_Mutation_p.G319E|SERPINI2_uc003fet.1_Missense_Mutation_p.G319E	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	319					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACCTGTTATTCCAGAAAGGTC	0.303000														21			18		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:12656204G>A	uc002gno.2	+	9	1898	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.W533*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.W437*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.W252*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	533					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACTCACCTGGAAACTCCAGC	0.537000														42			31		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832684	46832684	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:46832684C>T	uc002peh.3	+	11	1692	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	HIF3A_uc002peg.4_Missense_Mutation_p.P554L|HIF3A_uc021uwf.1_Missense_Mutation_p.P498L|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.P485L|HIF3A_uc002pel.3_Missense_Mutation_p.P552L|HIF3A_uc010xxz.2_Missense_Mutation_p.P503L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	554	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCTCCAGCCCTTCCAGAGGG	0.677000														9			6		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71426727	71426727	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:71426727G>A	uc010dfm.3	-	11	1506	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P	SDK2_uc010dfn.2_Silent_p.P181P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	502	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTGATCCTGGGGGGGCTTGG	0.602000														15			7		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67376146	67376146	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:67376146C>T	uc001omj.2	+	2	432	c.279C>T	c.(277-279)ttC>ttT	p.F93F	C11orf72_uc001omi.1_5'Flank|NDUFV1_uc010rpv.1_5'UTR|NDUFV1_uc001omk.4_Silent_p.F84F|NDUFV1_uc001oml.2_Silent_p.F86F|NDUFV1_uc009yrz.1_5'UTR|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GCGCTGGCTTCCCCACTGGCC	0.612000														85			54		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113317143	113317143	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113317143A>G	uc003ynu.3	-	52	8231	c.8072_splice	c.e52-1	p.V2691_splice	CSMD3_uc003yns.3_Splice_Site_p.V1893_splice|CSMD3_uc003ynt.3_Splice_Site_p.V2651_splice|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2691	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACATGTAACAACTATACAAA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				19			12		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52497298	52497298	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:52497298C>T	uc010bff.3	-	37	4746	c.4584G>A	c.(4582-4584)ctG>ctA	p.L1528L	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1528	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTGTGGGCTTCAGGCCGGAAA	0.597000														50			36		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133779	153133780	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:153133779_153133780GG>AA	uc004fjb.3	-	12	1788_1789	c.1680_1681CC>TT	c.(1678-1683)ctccag>ctTTag	p.Q561*	L1CAM_uc004fjc.3_Nonsense_Mutation_p.Q561*|L1CAM_uc010nuo.3_Nonsense_Mutation_p.Q556*|L1CAM_uc004fjd.1_Nonsense_Mutation_p.Q375*	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	561	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAAGCTCCTGGAGGTCTCGAC	0.589000														8			75		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617443	70617443	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:70617443G>A	uc003xyl.3	-	5	2152	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V	SLCO5A1_uc010lzb.3_Missense_Mutation_p.A427V|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A482V|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A427V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	482						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACCAACACCAGCACTGGGGAC	0.408000														56			39		0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688755	131688755	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:131688755G>A	uc002tsa.1	+	2	744	c.225G>A	c.(223-225)caG>caA	p.Q75Q	ARHGEF4_uc010fmw.1_Silent_p.Q721Q|ARHGEF4_uc002tsb.1_Silent_p.Q75Q|ARHGEF4_uc010fmx.1_Silent_p.Q75Q|ARHGEF4_uc002trz.1_Silent_p.Q721Q	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	75	ABR (APC-binding region) domain.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGAAGACACAGAGAAAGAAGT	0.597000														26			22		0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61040517	61040517	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61040517G>A	uc002ycx.1	-	5	979	c.917C>T	c.(916-918)tCc>tTc	p.S306F		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	Homo sapiens GATA binding protein 5 (GATA5), mRNA.	306					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			ATTCCTTGTGGATCCTGGAAG	0.637000														17			11		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869256	206869256	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:206869256G>A	uc002vaz.4	-	10	3325	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCGCTGAACTGAGGGAGTTGC	0.587000														9			6		0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128114656	128114656	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:128114656G>A	uc010qum.2	-	8	2286	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	C10orf90_uc001ljp.3_Silent_p.I511I|C10orf90_uc001ljq.3_Silent_p.I655I	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	655										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGTTATCATAGATTCTGAAAC	0.428000														41			21		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167663357	167663357	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167663357G>A	uc001gem.3	+	4	479	c.292G>A	c.(292-294)Gct>Act	p.A98T	RCSD1_uc010pli.2_Missense_Mutation_p.A68T	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	98										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTTTGACCCAGCTGCTCTACT	0.512000														71			24		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46574083	46574083	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:46574083T>C	uc002ruv.3	+	1	608	c.98T>C	c.(97-99)gTg>gCg	p.V33A		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	33	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACGGAGGTGTTCTATGAG	0.607000														42			32		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405382	1405382	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1405382G>A	uc009xhq.3	-	2	1244	c.918C>T	c.(916-918)ttC>ttT	p.F306F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	306	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGGCCATCACGAAGCTCCGCG	0.741000														5			6		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228892229	228892229	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228892229C>T	uc002vpq.2	-	3	324	c.277G>A	c.(277-279)Gat>Aat	p.D93N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D93N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D93N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	93						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGCATTCATCCTTGTTCACA	0.393000														37			43		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38644855	38644855	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38644855C>T	uc010cxb.3	-	2	970	c.806G>A	c.(805-807)aGc>aAc	p.S269N		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	269	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGAGATCCTGCTGCCCCGCTG	0.592000														70			53		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:10914379G>A	uc002yip.1	-	20	1708	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S429L|TPTE_uc002yir.1_Missense_Mutation_p.S409L|TPTE_uc010gkv.1_Missense_Mutation_p.S309L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	447	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCTAATGAAATAGTGGA	0.328000														81			10		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101862792	101862792	+	Missense_Mutation	SNP	A	G	G	rs45624543		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:101862792A>G	uc002bxa.2	-	18	2709	c.2395T>C	c.(2395-2397)Tgc>Cgc	p.C799R	PCSK6_uc010bpd.3_Missense_Mutation_p.C596R|PCSK6_uc002bwy.3_Missense_Mutation_p.C799R|PCSK6_uc010bpe.3_Missense_Mutation_p.C783R|PCSK6_uc002bxb.2_Missense_Mutation_p.C786R	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	800	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTGGGTGGCATTTAAGGCAA	0.463000														11			12		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165827045	165827045	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:165827045C>T	uc003qun.3	-	13	1437	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.E328K|PDE10A_uc003quo.3_Missense_Mutation_p.E408K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	398	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AAGTTGTTTTCATCTGTTTTA	0.408000														49			45		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641041	23641041	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:23641041G>A	uc002dlx.1	-	4	2634	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	812					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTCAATGGGTGGAGGTGTT	0.493000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						36			29		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823430	146823430	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:146823430G>A	uc003ikn.3	-	1	1029	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ZNF827_uc003ikm.3_Silent_p.V327V|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	327	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					gtggcggAGTGACTTTTTCTG	0.562000														36			23		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40044126	40044126	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:40044126G>A	uc001rmc.3	+	6	823	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	219								p.R219Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAAACTACACGATTTGGGACA	0.308000														17			13		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448879	99448879	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:99448879C>T	uc002szf.1	-	4	766	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	158								p.D157D(2)		NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GGCAGCCCGTCGTCCTCAGAG	0.587000														30			42		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7122668	7122668	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7122668C>T	uc002mgd.1	-	18	3595	c.3486G>A	c.(3484-3486)gcG>gcA	p.A1162A	INSR_uc002mge.1_Silent_p.A1150A	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1162	Protein kinase.		A -> E (in IRAN type A; impairs proteolytic processing).		G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCAGTTTCTCGCTGCCAGGT	0.507000														43			34		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20856071	20856071	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20856071G>A	uc001vxe.3	-	17	2717	c.2677C>T	c.(2677-2679)Cag>Tag	p.Q893*	TEP1_uc010ahk.3_Nonsense_Mutation_p.Q243*|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Nonsense_Mutation_p.Q785*	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	893					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GACCCTTGCTGGGAAACAGGA	0.547000														54			30		0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90045123	90045123	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:90045123C>T	uc001kfe.3	-	6	1152	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Intron|RNLS_uc009xtj.3_3'UTR	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 1, mRNA.	339						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AAATATAATTCTTTAAAGCTT	0.348000														29			23		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847802	166847802	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:166847802C>T	uc002udo.4	-	27	6210	c.5983G>A	c.(5983-5985)Gaa>Aaa	p.E1995K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1967K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1984K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1995						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1994T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCATGTTTTTCCACAATTGGC	0.368000														20			18		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52453896	52453896	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52453896C>T	uc003ddy.3	+	4	1040	c.234C>T	c.(232-234)ttC>ttT	p.F78F	PHF7_uc003ddz.3_Silent_p.F78F	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	78						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACAGAGGCTTCCATGGATTTC	0.498000														8			6		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97770838	97770838	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:97770838C>T	uc001drv.3	-	17	2413	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	759					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATATGTAGTTCGCTTTGCAAT	0.478000														111			46		0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67375966	67375966	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:67375966G>A	uc002esv.3	+	1	196	c.177G>A	c.(175-177)agG>agA	p.R59R	LRRC36_uc002esw.3_Non-coding_Transcript	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	59								p.R59S(2)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ATTTATCAAGGAATTTGATCA	0.363000														29			18		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396861	71396861	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:71396861G>A	uc003hfk.1	+	7	552	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AMTN_uc010ihy.1_Missense_Mutation_p.A154T	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	155					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			AAGCCTTCCAGCAGGAGGAGC	0.597000														23			20		0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390459	93390459	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:93390459G>A	uc001kho.3	-	1	311	c.179C>T	c.(178-180)tCa>tTa	p.S60L		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	60							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ATTGAGACATGATTTCAGGGG	0.453000														130			92		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823575	114823575	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:114823575C>T	uc003ibq.1	-	1	2543	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	ARSJ_uc010imu.1_Missense_Mutation_p.G552E|ARSJ_uc010imv.1_Missense_Mutation_p.G380E	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	552						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ATACCATGGTCCCCAGACCCC	0.458000														20			22		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682606	65682606	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:65682606G>A	uc002aou.1	-	12	2505	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	IGDCC4_uc002aot.1_Silent_p.S353S	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	765	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAAGCCAGATGGATGTGGAGC	0.547000														28			25		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41832248	41832248	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:41832248G>A	uc010lxb.3	-	8	2000	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	KAT6A_uc010lxc.3_Missense_Mutation_p.R486C|KAT6A_uc003xon.4_Missense_Mutation_p.R486C|KAT6A_uc010lxd.3_Missense_Mutation_p.R486C	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	486	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TGGATATCACGAAATAATTCC	0.393000														54			30		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17708551	17708551	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:17708551G>A	uc001bak.1	+	5	643	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	207					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TACCTCCAAGGAAGAGTCGAA	0.517000														7			27		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502463	140502463	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140502463G>A	uc003lip.1	+	0	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAATAAATGAAGTCACGGG	0.363000														92			81		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:7981739G>A	uc001mfv.1	-	1	1437	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000														66			52		0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69381718	69381718	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:69381718T>C	uc002exc.2	-	2	518	c.462A>G	c.(460-462)caA>caG	p.Q154Q		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 6 (TMED6), mRNA.	154					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TATCATTCAGTTGTTTTCTTT	0.408000														118			94		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759108	176759108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176759108G>A	uc001gkz.3	+	17	6043	c.4879G>A	c.(4879-4881)Gaa>Aaa	p.E1627K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1627	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGAACGTGAAAAGGTAAG	0.423000														71			93		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105260242	105260242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:105260242C>T	uc001tla.3	-	5	1310	c.1143G>A	c.(1141-1143)tgG>tgA	p.W381*		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	381						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TGACAGGCTCCCAGCCTGAGT	0.413000														27			27		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35229048	35229048	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:35229048G>A	uc002yta.1	+	29	3938	c.3670G>A	c.(3670-3672)Gac>Aac	p.D1224N	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.D1219N|ITSN1_uc002ytj.2_Missense_Mutation_p.D1219N|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yti.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1224					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGGGTGTTCAGACTTACATCT	0.493000														38			28		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65175550	65175550	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:65175550C>T	uc003hcv.3	-	5	760	c.651G>A	c.(649-651)ttG>ttA	p.L217L	TECRL_uc003hcw.3_Silent_p.L217L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	217					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCACCATTATCAAATTTTTCA	0.338000														74			45		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380511	108380511	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:108380511C>A	uc001pkk.3	-	5	5834	c.5723G>T	c.(5722-5724)gGa>gTa	p.G1908V	EXPH5_uc010rvz.2_Missense_Mutation_p.G1752V|EXPH5_uc010rvy.2_Missense_Mutation_p.G1720V	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1908					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCATAATCTTCCTTGTGTAAG	0.398000														78			36		1.836e-18	1.86216e-18	1	1	0
NUP88	4927	broad.mit.edu	37	17	5308430	5308430	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5308430C>T	uc010vsx.2	-	5	1080	c.991G>A	c.(991-993)Gga>Aga	p.G331R	NUP88_uc002gbo.2_Missense_Mutation_p.G331R|NUP88_uc010cle.2_Missense_Mutation_p.G330R|NUP88_uc010vsy.2_Missense_Mutation_p.G331R	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	331					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TACAGCATTCCTGATTCAGTA	0.483000														35			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068830	9068830	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9068830C>T	uc002mkp.3	-	2	18820	c.18616G>A	c.(18616-18618)Gat>Aat	p.D6206N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6208	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAACACATCATTGAGATCA	0.468000														75			34		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121646614	121646614	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121646614G>A	uc003eep.2	+	13	1287	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	SLC15A2_uc011bjn.1_Silent_p.R347R	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	378					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GATCACTTAGGAAAATGGCTG	0.368000														35			18		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69109499	69109500	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:69109499_69109500CC>TT	uc001suf.3	+	11	1177_1178	c.1062_1063CC>TT	c.(1060-1065)atccgt>atTTgt	p.R355C	NUP107_uc001sug.3_Missense_Mutation_p.R202C|NUP107_uc010stj.2_Missense_Mutation_p.R326C	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	355					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTACTCTAATCCGTGCTGGAAT	0.396000														52			42		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153984830	153984830	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:153984830G>A	uc001fdw.3	-	33	4742	c.4670C>T	c.(4669-4671)tCa>tTa	p.S1557L	NUP210L_uc009woq.3_Missense_Mutation_p.S466L|NUP210L_uc010peh.2_Missense_Mutation_p.S1557L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1557						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TAATCTTGATGATGCATTGAC	0.413000														135			60		0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76523288	76523288	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76523288A>G	uc011cbp.2	-	7	1518	c.993T>C	c.(991-993)gtT>gtC	p.V331V	CDKL2_uc003hiq.3_Silent_p.V331V|CDKL2_uc010iix.1_Non-coding_Transcript	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	331					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCTTTCTTCAACTAAGGAAT	0.249000														21			13		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227533	38227533	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:38227533C>T	uc009vvi.3	-	2	480	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	EPHA10_uc001cbw.4_Missense_Mutation_p.E132K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	132						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCAGTTTCCAGGTAGTAG	0.657000														63			82		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152518750	152518750	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152518750C>T	uc021vrb.1	-	43	5898	c.5869G>A	c.(5869-5871)Gaa>Aaa	p.E1957K	NEB_uc002txu.3_Missense_Mutation_p.E1957K|NEB_uc021vrc.1_Missense_Mutation_p.E1957K|NEB_uc010fnx.3_Missense_Mutation_p.E1957K|NEB_uc021vrd.1_Missense_Mutation_p.E1957K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1957					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		TACTTCTTTTCACTAATAATC	0.453000														42			30		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84685073	84685073	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:84685073G>A	uc003uic.3	-	6	861	c.821C>T	c.(820-822)tCc>tTc	p.S274F	SEMA3D_uc010led.3_Missense_Mutation_p.S274F|SEMA3D_uc010lee.1_Missense_Mutation_p.S274F	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	274	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GGTTTTATCGGAGGTACTGCC	0.279000														40			24		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413811	110413811	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110413811G>A	uc003yne.3	+	13	1471	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	456					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q456Q(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGCAGAAAGGAAAAGAGTAA	0.308000										HNSCC(38;0.096)				19			14		0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021761	68021761	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:68021761C>T	uc010cey.3	-	8	1364	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	DPEP2_uc002eve.3_Silent_p.V400V|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	400					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTACCTTTTCCACTTGTCTGA	0.562000														125			67		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31134230	31134230	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:31134230G>A	uc010qdz.2	-	7	2582	c.2147C>T	c.(2146-2148)tCc>tTc	p.S716F	ZNF438_uc001ivn.3_Missense_Mutation_p.S667F|ZNF438_uc010qdy.2_Missense_Mutation_p.S706F|ZNF438_uc001ivo.4_Missense_Mutation_p.S280F|ZNF438_uc009xlg.3_Missense_Mutation_p.S716F|ZNF438_uc001ivp.4_Missense_Mutation_p.S706F|ZNF438_uc010qea.2_Missense_Mutation_p.S716F|ZNF438_uc010qeb.2_Missense_Mutation_p.S716F	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTCCTCGGAGGAGGAATGAAC	0.537000														69			57		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946540	144946540	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:144946540G>A	uc003zaa.1	-	0	895	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	294						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTGGCCTTCGGGCAGCAGGA	0.692000														39			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10447315	10447315	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10447315C>T	uc010coi.3	-	6	680	c.552G>A	c.(550-552)ggG>ggA	p.G184G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.G184G|MYH2_uc010coj.3_Silent_p.G184G	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	184	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCACAGTCTTCCCTGCACCAG	0.408000														52			40		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73832457	73832457	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:73832457G>A	uc002jpp.3	-	14	1732	c.1352C>T	c.(1351-1353)aCc>aTc	p.T451I	UNC13D_uc010wsk.1_Missense_Mutation_p.T451I|UNC13D_uc002jpq.1_Missense_Mutation_p.T101I|UNC13D_uc010dgq.1_Missense_Mutation_p.T247I	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	451	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAATGGGGCGGTGTTGGGGCA	0.622000									Familial Hemophagocytic Lymphohistiocytosis					21			12		0	0	1	0	0
PTPN2	5771	broad.mit.edu	37	18	12859247	12859247	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:12859247G>A	uc002krp.3	-	1	270	c.76C>T	c.(76-78)Cga>Tga	p.R26*	PTPN2_uc002krn.3_Nonsense_Mutation_p.R26*|PTPN2_uc002krl.3_Nonsense_Mutation_p.R26*|PTPN2_uc002krm.3_Nonsense_Mutation_p.R26*	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	26	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	p.R26*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GACTCATTTCGAATTTCCtta	0.358000														23			23		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953192	140953192	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140953192G>A	uc003llb.4	-	15	2366	c.2225C>T	c.(2224-2226)cCa>cTa	p.P742L	DIAPH1_uc003llc.4_Missense_Mutation_p.P733L|DIAPH1_uc021yep.1_Missense_Mutation_p.P742L|DIAPH1_uc021yeq.1_Missense_Mutation_p.P733L|DIAPH1_uc010jgc.1_Missense_Mutation_p.P181L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	742	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCCGGGTGGAGGTGGAGG	0.572000														26			16		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107005301	107005301	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:107005301C>T	uc001kyi.1	+	21	3096	c.2869_splice	c.e21-1	p.P957_splice	SORCS3_uc010qqz.1_Splice_Site	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	957						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCTTGTAGCCTCTCATCACT	0.453000														105			56		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758449	50758449	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:50758449G>A	uc021vhh.1	-	9	3184	c.2263C>T	c.(2263-2265)Ctg>Ttg	p.L755L	NRXN1_uc002rxb.4_Silent_p.L427L|NRXN1_uc021vhg.1_Silent_p.L795L|NRXN1_uc021vhi.1_Silent_p.L791L|NRXN1_uc021vhj.1_Silent_p.L751L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	755	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTGCCATCAGAATGCCATAT	0.517000														21			13		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1651459G>A	uc001lty.3	+	0	427	c.389G>A	c.(388-390)gGc>gAc	p.G130D	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	130	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692000														26			11		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889189	38889189	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38889189G>A	uc021wvy.1	-	25	4571	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1458					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1458S(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGCGTCGGAGGGAAAGGAATG	0.493000														31			13		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588737	6588737	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:6588737C>T	uc003gjf.1	+	3	442	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	MAN2B2_uc003gje.1_Missense_Mutation_p.L136F|MAN2B2_uc011bwf.1_Missense_Mutation_p.L136F	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	136					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACACGGGTTTCTCTATGAAAC	0.627000														45			32		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42730445	42730445	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:42730445C>T	uc003clv.1	+	3	1606	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	502										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CCCGCTCACTCTTTGGGGCCA	0.577000														35			24		0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175324620	175324620	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:175324620G>A	uc002uit.3	-	10	2148	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	GPR155_uc002uiu.3_Missense_Mutation_p.S586F|GPR155_uc002uiv.3_Missense_Mutation_p.S586F|GPR155_uc010fqs.3_Missense_Mutation_p.S558F	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	586					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTCTGGAATAGAGCTTGTAAA	0.408000														72			6		0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134952890	134952890	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:134952890G>A	uc004cbe.2	-	1	330	c.287C>T	c.(286-288)cCt>cTt	p.P96L	MED27_uc004cbf.2_Missense_Mutation_p.P96L|MED27_uc011mco.2_Missense_Mutation_p.P96L|MED27_uc004cbg.4_Missense_Mutation_p.P96L|MED27_uc022box.1_Missense_Mutation_p.P96L	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	Homo sapiens mediator complex subunit 27 (MED27), transcript variant 1, mRNA.	96					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GTCCTGCACAGGATCCAGGCT	0.438000														79			63		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121344399	121344399	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:121344399G>A	uc003yox.3	+	40	4944	c.4679G>A	c.(4678-4680)gGa>gAa	p.G1560E	COL14A1_uc003yoz.3_Missense_Mutation_p.G525E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1560	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGAAAGGATGGATCCTCGGGA	0.463000														29			36		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212942	131212942	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:131212942C>T	uc004ewn.3	-	11	1281	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	FRMD7_uc022cdy.1_Missense_Mutation_p.G248E|FRMD7_uc011muy.2_Missense_Mutation_p.G353E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	368					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					tgcGTGCACTCCATTCACATT	0.478000														15			78		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874255	36874255	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36874255G>A	uc003cgj.3	-	20	6935	c.6687C>T	c.(6685-6687)ttC>ttT	p.F2229F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2229					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AATGCTTAGGGAAAAGGACAT	0.368000														61			29		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738873	138738873	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:138738873G>A	uc003esy.1	-	0	896	c.631C>T	c.(631-633)Cca>Tca	p.P211S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	211	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGGGCGTGGAGAACGTCTC	0.617000														33			26		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872902	36872902	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36872902C>T	uc003cgj.3	-	20	8288	c.8040G>A	c.(8038-8040)agG>agA	p.R2680R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2680					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCATGCCCTCCTCAACTTCC	0.582000														13			13		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705449	14705449	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:14705449G>A	uc010dzn.2	+	5	393	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	CLEC17A_uc010dzo.2_Missense_Mutation_p.E106K|CLEC17A_uc002mzh.2_Missense_Mutation_p.E89K|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Missense_Mutation_p.E106K	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	106						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CTCAGCAAAGGAAACAGAGAA	0.582000														34			20		0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31696511	31696511	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:31696511G>A	uc003nwp.3	-	1	940	c.309C>T	c.(307-309)gtC>gtT	p.V103V	DDAH2_uc003nwq.3_Silent_p.V103V	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	103					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GGGCTTTGCGGACTCCATCGA	0.577000														29			10		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517766	176517766	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176517766G>A	uc003mfl.3	+	3	543	c.376G>A	c.(376-378)Gat>Aat	p.D126N	FGFR4_uc003mfm.3_Missense_Mutation_p.D126N|FGFR4_uc011dfu.2_Missense_Mutation_p.D126N|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Missense_Mutation_p.D126N|FGFR4_uc011dfw.1_Missense_Mutation_p.D126N|FGFR4_uc003mfo.3_Missense_Mutation_p.D126N	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	126					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTCCAGCAACGATGATGAGGA	0.577000										TSP Lung(9;0.080)				41			20		0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75849098	75849098	+	Silent	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:75849098T>C	uc001jwd.3	+	8	1261	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D	VCL_uc009xrr.3_Silent_p.D138D|VCL_uc010qky.1_Silent_p.D296D|VCL_uc001jwe.3_Silent_p.D389D|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	389	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGAAGATCGATGCTGCTCAGG	0.423000														36			23		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18104317	18104317	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:18104317C>T	uc002nht.3	+	9	1636	c.1326C>T	c.(1324-1326)atC>atT	p.I442I		NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	442	Calmodulin-binding (By similarity).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GTGTGAAGATCGAGCAAGGGA	0.657000														16			13		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114614	40114614	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:40114614C>T	uc001rmc.3	+	12	1687	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	507										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GATCAAATATCACAGCAAATT	0.289000														38			33		0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61621669	61621669	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61621669G>A	uc010dqj.3	+	2	249	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	34						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						AATCGGAGGTGAAGATGGAGA	0.353000														109			50		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353855	113353855	+	Missense_Mutation	SNP	C	T	T	rs139554725	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113353855C>T	uc003ynu.3	-	41	6662	c.6503G>A	c.(6502-6504)cGa>cAa	p.R2168Q	CSMD3_uc003yns.3_Missense_Mutation_p.R1370Q|CSMD3_uc003ynt.3_Missense_Mutation_p.R2128Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R2064Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2168	CUB 12.					integral to membrane|plasma membrane		p.R2168Q(2)|p.R2128Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATCCACTTCGTACTTCCAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				44			19		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108973025	108973025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:108973025C>T	uc003yms.3	-	3	962	c.304G>A	c.(304-306)Gat>Aat	p.D102N	RSPO2_uc003ymq.3_Missense_Mutation_p.D35N|RSPO2_uc003ymr.3_Missense_Mutation_p.D39N	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	102					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AAGCAAGAATCACAGTTTTCT	0.303000														24			15		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74459210	74459210	+	Missense_Mutation	SNP	G	A	A	rs144927031		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:74459210G>A	uc003hhd.1	-	3	464	c.341C>T	c.(340-342)tCt>tTt	p.S114F	RASSF6_uc003hhc.1_Missense_Mutation_p.S82F|RASSF6_uc010iik.1_Missense_Mutation_p.S82F|RASSF6_uc010iil.1_Missense_Mutation_p.S70F	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	114					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			ACTAGTAAAAGAAGAGAATGG	0.358000														45			46		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554088	152554088	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152554088G>A	uc021vrb.1	-	11	1256	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	NEB_uc002txu.3_Silent_p.L409L|NEB_uc021vrc.1_Silent_p.L409L|NEB_uc010fnx.3_Silent_p.L409L|NEB_uc021vrd.1_Silent_p.L409L|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	409					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.L409L(3)		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)		GAACAGTATCGAGCTTGAATT	0.328000														48			44		0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119358	68119358	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:68119358G>A	uc002aqy.1	+	2	1060	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	398					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCATCCTTACGGCTTCCCTAC	0.672000														10			6		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684513	55684513	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55684513C>T	uc003pcq.3	-	1	1335	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BMP5_uc011dxf.2_Missense_Mutation_p.R208Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	208					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTTTCAAATCGGTTGTTGCT	0.338000														64			15		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651886	121651886	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:121651886C>T	uc003vjy.3	+	11	3181	c.2786C>T	c.(2785-2787)gCc>gTc	p.A929V	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	929					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCTTCTTATGCCTTGTCTGAT	0.438000														78			53		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891794	6891794	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6891794C>T	uc001meu.1	+	0	809	c.809C>T	c.(808-810)cCc>cTc	p.P270L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P270P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTATGACTCCCATGTTGAAC	0.453000														99			74		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258380	57258380	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:57258380G>C	uc001cym.4	-	1	512	c.106C>G	c.(106-108)Cca>Gca	p.P36A	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P36A	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	36										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCACCCTTTGGAGAAACACCT	0.463000														106			174		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:57327691G>A	uc002qnu.2	-	6	2470	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H678Y|PEG3_uc002qnv.2_Missense_Mutation_p.H707Y|PEG3_uc002qnw.2_Missense_Mutation_p.H583Y|PEG3_uc002qnx.2_Missense_Mutation_p.H581Y|PEG3_uc010etr.2_Missense_Mutation_p.H707Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	707					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCGAGAATGAATTTTCTGA	0.433000														50			56		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494966	128494966	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128494966G>A	uc003vnz.4	+	42	7344	c.7135_splice	c.e42+1	p.G2379_splice	FLNC_uc003voa.4_Splice_Site_p.G2346_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2379					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGGAACCAGGTGGGCGTCC	0.617000														72			13		0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937017	152937017	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:152937017G>A	uc011myu.2	-	5	960	c.774C>T	c.(772-774)acC>acT	p.T258T	PNCK_uc011myt.2_Silent_p.T192T|PNCK_uc004fhz.4_Silent_p.T73T|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Silent_p.T202T|PNCK_uc011myw.2_Silent_p.T202T	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	175	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATATCCAGGGGTCCCACAGG	0.602000														10			59		0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118919815	118919815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:118919815G>A	uc001puu.2	-	16	2100	c.1907C>T	c.(1906-1908)cCc>cTc	p.P636L	HYOU1_uc001put.2_Missense_Mutation_p.P601L|HYOU1_uc010ryu.1_Intron|HYOU1_uc010ryv.1_Missense_Mutation_p.P525L|HYOU1_uc001pux.3_Missense_Mutation_p.P636L|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Missense_Mutation_p.P636L	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	636	Poly-Pro.					endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGGGGGTGGGGGCTGAGAGCC	0.607000														33			22		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61994510	61994510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61994510C>T	uc001jky.3	-	7	1171	c.833G>A	c.(832-834)aGa>aAa	p.R278K	ANK3_uc010qih.2_Missense_Mutation_p.R261K|ANK3_uc001jkz.4_Missense_Mutation_p.R272K|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	278					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCATTTCCTCTTTTTGATGC	0.368000														23			12		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465432	77465432	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:77465432C>T	uc002ffc.4	-	2	674	c.255G>A	c.(253-255)agG>agA	p.R85R	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATCGCTTTTTCCTGCCGTTGT	0.478000														155			92		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19673952	19673952	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:19673952C>T	uc002wrl.3	+	12	1571	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	458						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGCTGAGTTTCGTCTTATACT	0.458000											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			26		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187179265	187179265	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:187179265G>A	uc003iyy.3	+	14	1887	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	KLKB1_uc011clc.2_Missense_Mutation_p.E404K|KLKB1_uc011cld.2_3'UTR	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	606	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TGCCCGCAGGGAGCAACCTGG	0.517000														32			35		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16973861	16973861	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16973861C>T	uc009vow.2	+	4		c.671C>T			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_5'Flank|MST1P2_uc001azm.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TAGGGAAGGTCCAGGACTCCA	0.682000														22			4		0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28512340	28512340	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:28512340T>C	uc002heu.3	+	6	1353	c.1325T>C	c.(1324-1326)gTa>gCa	p.V442A	NSRP1_uc002hev.3_Missense_Mutation_p.V388A|NSRP1_uc010wbl.2_Missense_Mutation_p.V388A|NSRP1_uc010wbm.2_Missense_Mutation_p.V388A|NSRP1_uc002hex.3_Missense_Mutation_p.V388A	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	442					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	p.E441K(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						aaaCGAGAGGTAGGTGTTCAG	0.358000														27			25		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171379	7171379	+	Splice_Site	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:7171379T>C	uc004cry.4	+	2	397	c.152_splice	c.e2+2	p.R51_splice		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	51					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	AACTATCAGGTTGGTAATGCA	0.502000									Ichthyosis					2			38		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203512	84203512	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:84203512G>A	uc002fhl.4	+	7	1259	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	DNAAF1_uc010vnw.2_Missense_Mutation_p.E124K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	360					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGCCAGTGCGGAAGGCAAGGA	0.532000														41			21		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24219284	24219284	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:24219284C>T	uc011ajc.1	+	4	973	c.483C>T	c.(481-483)ctC>ctT	p.L161L	SLC2A11_uc002zyl.1_Silent_p.L161L|SLC2A11_uc002zym.4_Silent_p.L161L|SLC2A11_uc002zyn.4_Silent_p.L154L|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Silent_p.L148L|SLC2A11_uc002zyp.4_Silent_p.L157L			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	154						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTAAGGAGCTCCGAGGAGCTG	0.617000														11			33		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:29533315C>T	uc002hgg.3	+	11	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_uc002hge.2_Nonsense_Mutation_p.R440*|NF1_uc002hgf.2_Nonsense_Mutation_p.R440*|NF1_uc002hgh.3_Nonsense_Mutation_p.R440*|NF1_uc010csn.2_Nonsense_Mutation_p.R300*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	440					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)|p.R440*(6)|p.R440>?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTT	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				80			51		0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386491	118386491	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:118386491C>T	uc001lcq.3	+	5	470	c.447C>T	c.(445-447)ttC>ttT	p.F149F	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	149					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGACAGCTTTCTTAATACAAG	0.587000														10			9		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78868242	78868242	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:78868242C>T	uc001jxn.3	-	8	1397	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	KCNMA1_uc021ptu.1_Missense_Mutation_p.R353K|KCNMA1_uc001jxj.2_Missense_Mutation_p.R407K|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Missense_Mutation_p.R227K|KCNMA1_uc001jxl.1_Missense_Mutation_p.R61K|KCNMA1_uc001jxo.3_Missense_Mutation_p.R407K|KCNMA1_uc001jxm.3_Missense_Mutation_p.R407K|KCNMA1_uc001jxq.3_Missense_Mutation_p.R407K	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	407					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TACTTACTTTCTTCCACTAAC	0.438000														37			42		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713720	138713720	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:138713720G>A	uc004cgr.4	-	10	2787	c.2787C>T	c.(2785-2787)ccC>ccT	p.P929P	CAMSAP1_uc004cgq.4_Silent_p.P819P|CAMSAP1_uc010nbg.3_Silent_p.P651P	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	929						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCGGCCTGAGGGGTGGGGCAG	0.597000														67			57		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80549044	80549044	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:80549044G>A	uc022awk.1	+	1	409	c.27G>A	c.(25-27)aaG>aaA	p.K9K	STMN2_uc003ybj.3_Silent_p.K9K|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	9	Membrane attachment (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CAGCCTACAAGGAAAAAATGA	0.368000														32			23		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560639	59560639	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:59560639G>A	uc010ddo.3	+	8	1566	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	TBX4_uc002izi.3_Missense_Mutation_p.G467E|TBX4_uc010woy.2_Missense_Mutation_p.G468E	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	467					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCCACCAGGAAATGCCCAC	0.647000														58			32		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685491	111685491	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111685491G>A	uc010hqa.3	+	13	3520	c.3109G>A	c.(3109-3111)Gaa>Aaa	p.E1037K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E1021K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E994K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E1037K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E994K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E528K|PHLDB2_uc003dyj.3_Missense_Mutation_p.E92K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1037						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TAGAATAGAAGAAATGGAGAG	0.428000														50			31		0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36552305	36552305	+	Splice_Site	SNP	C	T	T	rs140991291		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:36552305C>T	uc001bzr.3	+	5	616	c.489_splice	c.e5-1	p.C163_splice	TEKT2_uc001bzs.3_Splice_Site_p.C69_splice|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	163					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTTCCCCAGCCTCTTGCAGG	0.582000														49			71		0	0	1	0	0
CENPC1	1060	broad.mit.edu	37	4	68409894	68409894	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:68409894T>A	uc003hdd.1	-	1	221	c.38A>T	c.(37-39)tAc>tTc	p.Y13F	CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.Y13F	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	13					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						TCTTCTTCTGTAGCCATTTTT	0.289000														12			3		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043668	87043668	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:87043668C>T	uc009wcs.3	+	11	2079	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	CLCA4_uc009wct.3_Missense_Mutation_p.R442W|CLCA4_uc009wcu.3_Missense_Mutation_p.R499W	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	679						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.R679W(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTAAAAGTTCGGGCTCATGG	0.438000														29			30		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288491	77288491	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77288491C>T	uc003hkb.4	-	10	1939	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	596										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATTTCTTTCTCCAGTTGAGCT	0.413000														60			45		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220326617	220326617	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:220326617C>T	uc010fwg.3	+	6	2454	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Silent_p.S26S|SPEG_uc002vln.1_Silent_p.S26S|SPEG_uc002vlp.1_Silent_p.S26S|SPEG_uc002vlq.3_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	818					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.S818P(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTCTACATCCCCTTTCAGCA	0.632000														65			18		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586849	42586849	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:42586849C>T	uc003xpi.1	+	4	527	c.399C>T	c.(397-399)gtC>gtT	p.V133V		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	133					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGACCAAGGTCATCGTGAAAT	0.522000														27			24		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129246025	129246025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:129246025C>T	uc001qfc.4	+	0	145	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	32								p.L31L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGATCCTCTCCAAGGAGACC	0.597000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		90			71		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151514146	151514146	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:151514146G>A	uc010ntk.1	-	2	409	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	57					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGTCATCAGGAATATCTGGG	0.438000														4			41		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207454132	207454132	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:207454132G>A	uc002vbq.3	+	21	2076	c.1853_splice	c.e21-1	p.K618_splice	ADAM23_uc010ziv.2_Splice_Site	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	618					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATCTCCAAAAGAGGCTGCAGG	0.443000														21			18		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813436	248813436	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248813436G>A	uc010pzo.2	-	0	750	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCATAGAAGAGGCTGACAA	0.517000														75			6		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791303	95791303	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:95791303G>A	uc001kjk.3	+	1	1134	c.500G>A	c.(499-501)gGa>gAa	p.G167E	PLCE1_uc010qnx.2_Missense_Mutation_p.G167E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	167					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTCCTTTAGGAAATCAGTCA	0.428000														78			50		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77365615	77365615	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77365615C>T	uc004ajl.1	-	29	5260	c.5022G>A	c.(5020-5022)tgG>tgA	p.W1674*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.W1669*|TRPM6_uc022bib.1_Nonsense_Mutation_p.W1669*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Nonsense_Mutation_p.W625*|TRPM6_uc010mpd.1_Nonsense_Mutation_p.W507*|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.W630*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1674					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCTGGAATTCCACAAAGAGT	0.423000														45			29		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16001120	16001120	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:16001120C>T	uc010lsu.3	-	8	1098	c.1034_splice	c.e8-1	p.G345_splice	MSR1_uc003wwz.3_Splice_Site_p.G327_splice|MSR1_uc003wxa.3_Splice_Site_p.G327_splice|MSR1_uc003wxb.3_Splice_Site_p.G327_splice|MSR1_uc011kxz.2_Splice_Site_p.G101_splice	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	327					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAGAATTTCCTTGAGAAAA	0.313000														36			22		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29858218	29858218	+	Missense_Mutation	SNP	A	G	G	rs3115602	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:29858218A>G	uc021ytx.1	+	3	430	c.412A>G	c.(412-414)Agc>Ggc	p.S138G	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.S99G					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		TACTCGAGGCAGCAACAGTGC	0.567000														32			4		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293396	3293396	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3293396A>G	uc002cun.1	-	9	2131	c.2091T>C	c.(2089-2091)aaT>aaC	p.N697N	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Silent_p.N277N|MEFV_uc021tby.1_Silent_p.N200N|MEFV_uc021tbz.1_Silent_p.N116N|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	697	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTGGTACTCATTTTCCTTCA	0.537000														79			50		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671949	39671949	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:39671949C>T	uc021wjc.1	+	0	766	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	KCNJ15_uc002ywv.3_Missense_Mutation_p.H256Y|KCNJ15_uc002yww.3_Missense_Mutation_p.H256Y|KCNJ15_uc002ywx.3_Missense_Mutation_p.H256Y	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	256					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.H256H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GACATTCTACCATGTGCTGGA	0.542000														47			27		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139754484	139754484	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:139754484G>A	uc003vvl.1	-	3	1714	c.840C>T	c.(838-840)atC>atT	p.I280I	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	280						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AACTTTTCCGGATATGGTACA	0.468000														46			24		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73161499	73161499	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:73161499G>A	uc003hgk.2	-	18	2632	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	865	TSP type-1 2.				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)			TAGTGTACTGGAAACCTGGAA	0.353000														39			45		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567214	80567214	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:80567214G>A	uc022awk.1	+	3	779	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	STMN2_uc003ybj.3_Missense_Mutation_p.E133K|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	133					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GATGGCGGAGGAAAAGCTGAT	0.468000														34			23		0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88937312	88937312	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:88937312G>A	uc004aou.3	-	13	3094	c.2956C>T	c.(2956-2958)Cag>Tag	p.Q986*	ZCCHC6_uc010mqe.3_5'Flank|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Nonsense_Mutation_p.Q986*|ZCCHC6_uc004aot.3_Intron|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	986					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTTCTAGCTGGATTCTTTTG	0.393000														40			43		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595193	55595193	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55595193C>T	uc001nhy.1	+	0	499	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L167V(2)|p.I166I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTTAGGATCCTCTTCTATAG	0.478000										HNSCC(27;0.073)				150			102		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90801341	90801341	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:90801341A>C	uc002bpd.1	+	8	1295	c.1007A>C	c.(1006-1008)gAg>gCg	p.E336A	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	336	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGGGACATCGAGGACATCATC	0.537000														81			63		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173971	49173971	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:49173971G>A	uc002pkb.3	-	1	369	c.273C>T	c.(271-273)atC>atT	p.I91I	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.I91I	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	91						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGCAGACAGGATGAGGGCTG	0.662000														10			5		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27695119	27695119	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:27695119G>A	uc002rku.3	-	14	1573	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	IFT172_uc002rkv.3_Missense_Mutation_p.R482C|IFT172_uc010yls.2_Missense_Mutation_p.R487C|IFT172_uc010ezc.3_Missense_Mutation_p.R508C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	508					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTTCTCACACGAAGTTTCCGG	0.557000														46			19		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716270	196716270	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:196716270G>A	uc001gtj.4	+	21	3763	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1175	Sushi 20.				complement activation, alternative pathway	extracellular space		p.E1175D(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAAATTATGGAAAATTATAA	0.333000														57			90		0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74750093	74750093	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:74750093G>A	uc010yrw.2	-	6	1358	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	DQX1_uc002smc.3_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	398	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGCAATGGTGGAGCTTCTAG	0.502000														64			42		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282435	23282435	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23282435G>A	uc001wgr.4	-	1	311	c.173C>T	c.(172-174)tCc>tTc	p.S58F	SLC7A7_uc001wgs.4_Missense_Mutation_p.S58F|SLC7A7_uc001wgt.4_Missense_Mutation_p.S58F|SLC7A7_uc001wgu.4_Missense_Mutation_p.S58F|SLC7A7_uc001wgv.4_Missense_Mutation_p.S58F	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	58					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACCCTTGGGGGAAACAAAGAT	0.572000														72			56		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329294	33329294	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:33329294G>A	uc002xav.3	-	11	7337	c.4766C>T	c.(4765-4767)tCc>tTc	p.S1589F	NCOA6_uc002xaw.3_Missense_Mutation_p.S1589F|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.S1589F|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1589					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S1589F(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CAAGGGAGTGGAAATGGAGGA	0.463000														103			58		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105250889	105250889	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:105250889C>T	uc003dvx.3	+	3	1134	c.438C>T	c.(436-438)ctC>ctT	p.L146L	ALCAM_uc003dvw.2_Silent_p.L146L|ALCAM_uc003dvy.3_Silent_p.L146L|ALCAM_uc011bhh.1_Silent_p.L95L|ALCAM_uc010hpp.3_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	146	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L146L(6)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CACTGTTTCTCGAAACAGAGC	0.348000														113			83		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833320	43833320	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:43833320C>T	uc002zbe.3	+	3	626	c.542C>T	c.(541-543)tCt>tTt	p.S181F	UBASH3A_uc002zbf.3_Missense_Mutation_p.S181F|UBASH3A_uc010gpe.3_Missense_Mutation_p.S181F|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	181						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGAAGCATCTCTCTTAGCA	0.612000														27			23		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39219261	39219261	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:39219261G>A	uc003awk.3	-	3	1259	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	369	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGGGGCAGCTGGGCCACCTGG	0.662000														1			13		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829167	61829167	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61829167C>T	uc001jky.3	-	36	11810	c.11472G>A	c.(11470-11472)gtG>gtA	p.V3824V	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3824					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGAGACTTTCACTGGGTTAT	0.378000														131			97		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099125	169099125	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:169099125G>A	uc011bpj.1	-	1	628	c.225C>T	c.(223-225)ccC>ccT	p.P75P	MECOM_uc003ffl.2_Silent_p.P47P|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.P75P|MECOM_uc011bpl.1_Silent_p.P75P	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	75							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGCAGGAATGGGGATATCAT	0.473000														68			43		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719796	160719796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:160719796G>A	uc001fwq.3	+	2	577	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SLAMF7_uc010pjn.2_Missense_Mutation_p.E81K|SLAMF7_uc001fws.3_Missense_Mutation_p.E81K|SLAMF7_uc001fwr.3_Missense_Mutation_p.E188K|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Missense_Mutation_p.E81K|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Missense_Mutation_p.E81K	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	188	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAGATGGGGAGAAAGTGATAT	0.537000														120			47		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883146	228883146	+	Silent	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228883146G>T	uc002vpq.2	-	6	2471	c.2424C>A	c.(2422-2424)ccC>ccA	p.P808P	SPHKAP_uc002vpp.2_Silent_p.P808P|SPHKAP_uc010zlx.1_Silent_p.P808P	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	808						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTGCAGCGTGGGGTTCTTGA	0.463000														128			38		8.69298e-16	8.80693e-16	1	1	0
HNF1B	6928	broad.mit.edu	37	17	36093780	36093780	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36093780C>T	uc002hok.4	-	2	800	c.579G>A	c.(577-579)atG>atA	p.M193I	HNF1B_uc021tvu.1_5'Flank|HNF1B_uc010wdi.2_Intron|HNF1B_uc021tvv.1_Missense_Mutation_p.M193I|HNF1B_uc021tvw.1_Intron|HNF1B_uc010cve.1_Missense_Mutation_p.M1I	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	193					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTTTGTCTGTCATATTTCCAG	0.488000														58			29		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72985117	72985117	+	Missense_Mutation	SNP	G	A	A	rs147778900		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:72985117G>A	uc001xna.4	+	14	1673	c.1150G>A	c.(1150-1152)Gta>Ata	p.V384I	RGS6_uc021rvv.1_Missense_Mutation_p.V349I|RGS6_uc010ttn.2_Missense_Mutation_p.V384I|RGS6_uc021rvw.1_Missense_Mutation_p.V384I|RGS6_uc021rvx.1_Missense_Mutation_p.V384I|RGS6_uc021rvy.1_Missense_Mutation_p.V347I|RGS6_uc021rvz.1_Missense_Mutation_p.V347I|RGS6_uc001xmy.4_Missense_Mutation_p.V384I|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.V384I|RGS6_uc021rwa.1_Missense_Mutation_p.V347I|RGS6_uc021rwb.1_Missense_Mutation_p.V347I|RGS6_uc010ttp.1_Missense_Mutation_p.V315I|RGS6_uc021rwc.1_Missense_Mutation_p.V245I	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	384	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGCCAAGAGGGTAGAAGAAAT	0.498000														13			31		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215789	20215789	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20215789C>T	uc010tkt.2	+	0	203	c.203C>T	c.(202-204)tCt>tTt	p.S68F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTCATCTCTCTTTCATTGAC	0.458000														138			71		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168838894	168838894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:168838894G>A	uc011bpj.1	-	6	1485	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	MECOM_uc010hwk.1_Missense_Mutation_p.S196L|MECOM_uc003ffj.3_Missense_Mutation_p.S238L|MECOM_uc003ffi.3_Missense_Mutation_p.S173L|MECOM_uc011bpi.1_Missense_Mutation_p.S174L|MECOM_uc003ffn.3_Missense_Mutation_p.S173L|MECOM_uc003ffk.2_Missense_Mutation_p.S173L|MECOM_uc003ffl.2_Missense_Mutation_p.S333L|MECOM_uc011bpk.1_Missense_Mutation_p.S173L|MECOM_uc010hwn.2_Missense_Mutation_p.S361L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTGAGGCCCGACGAAGTGGC	0.552000														31			28		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746611	158746611	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158746611C>T	uc010pir.2	-	0	815	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R272*(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGCAAGTGTTCGGTCAAGGGT	0.433000														118			58		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117706913	117706913	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117706913G>A	uc003pxp.1	-	14	2436	c.2237C>T	c.(2236-2238)gCa>gTa	p.A746V	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	746					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCCTGCTCCTGCAATGCTGGG	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									57			35		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270136	36270136	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36270136C>T	uc010jwf.2	+	5	1274	c.1274C>T	c.(1273-1275)cCa>cTa	p.P425L	PNPLA1_uc010jwe.1_Missense_Mutation_p.P339L|PNPLA1_uc003olw.1_Missense_Mutation_p.P330L	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	425	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCACCCAGGCCATCCCTGGGG	0.592000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		145			54		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725311	87725311	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:87725311C>T	uc003pli.3	+	1	962	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HTR1E_uc021zcg.1_Missense_Mutation_p.R87C	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGTCATGGATCGCTGGAAGCT	0.572000														75			50		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607252	84607252	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:84607252C>T	uc004amn.3	+	3	1914	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	623						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TGAAATTAACCATCTGGAGTG	0.478000														49			46		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576290	4576290	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4576290G>A	uc002fyi.4	-	15	2222	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y	PELP1_uc010vsf.2_Missense_Mutation_p.H519Y	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	666	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCCGGAGGATGGAACGGTGGG	0.721000														23			17		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523827	55523827	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55523827C>T	uc010spe.2	+	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GGCAATCTCTCCTTCATTGAT	0.418000														125			77		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83378568	83378568	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:83378568G>A	uc010vns.2	+	6	1143	c.879G>A	c.(877-879)cgG>cgA	p.R293R	CDH13_uc002fgx.3_Silent_p.R246R|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Silent_p.R207R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	246	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGATCTTTCGGGAAGGCCCCT	0.507000														63			46		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096771	143096771	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143096771C>T	uc003wcz.3	-	3	895	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	270	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGCCACCTTCCTCATAGCCA	0.637000														51			27		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967144	96967144	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96967144G>A	uc001kke.3	+	3	708	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	C10orf129_uc009xuu.1_Missense_Mutation_p.G105R	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	195					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAGCTATGATGGGTGGTTGGA	0.423000														59			42		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074898	9074898	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9074898G>A	uc002mkp.3	-	2	12752	c.12548C>T	c.(12547-12549)cCc>cTc	p.P4183L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4185	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTAGAGGAGGGACTGTGCCC	0.517000														50			36		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815563	23815563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:23815563C>T	uc003gqs.3	-	7	1663	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	515					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTTTCATCTTCGCTGTCATCA	0.413000														87			60		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45391591	45391591	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:45391591C>T	uc002ozw.1	+	8	1962	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	TOMM40_uc002ozz.3_5'Flank|TOMM40_uc002paa.4_5'Flank|TOMM40_uc002ozx.4_5'Flank|TOMM40_uc002ozy.4_5'Flank	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	524					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTCTGATTCCTACCAGGGCA	0.542000														33			20		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141135	63141135	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:63141135C>T	uc001nww.3	+	2	794	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	176					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAGGTTCGTGCTCAGATGGTG	0.463000														46			40		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103748	52103748	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:52103748C>T	uc001jje.3	-	6	1081	c.127G>A	c.(127-129)Gat>Aat	p.D43N	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.D43N|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.D43N|SGMS1_uc021pqo.1_Missense_Mutation_p.D43N|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	49	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTTTTGAAATCCTCTTGGGTT	0.512000														52			24		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156878754	156878754	+	Missense_Mutation	SNP	A	G	G	rs138582700	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156878754A>G	uc001fqj.1	+	10	1453	c.1337A>G	c.(1336-1338)aAc>aGc	p.N446S	PEAR1_uc009wsl.1_Missense_Mutation_p.N247S|PEAR1_uc001fqk.1_Missense_Mutation_p.N71S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	446						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TACGGTGTCAACTGTTCTGCA	0.582000														50			70		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10506464	10506464	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:10506464C>T	uc001min.1	+	4	1059	c.714C>T	c.(712-714)ctC>ctT	p.L238L	AMPD3_uc010rbz.1_Silent_p.L70L|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Silent_p.L229L|AMPD3_uc001mio.1_Silent_p.L229L|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.L236L|AMPD3_uc009yfy.2_Silent_p.L229L	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	229					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)		GGGGCATCCTCTTTGTGTATG	0.587000														41			35		0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8538545	8538545	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:8538545C>T	uc004csf.3	-	6	1207	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	353	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTCACCCCATCCGTAGTCTTT	0.498000														3			4		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25821553	25821553	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:25821553G>A	uc003gru.4	-	7	1452	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	434						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCAAGGAGGGGATTAAAAATC	0.383000														7			9		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532287	40532287	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:40532287C>T	uc003xnr.3	-	4	659	c.513G>A	c.(511-513)aaG>aaA	p.K171K	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	171						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGCCGCATTCTTTTTGTGTT	0.468000														132			82		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509723	106509723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:106509723G>A	uc003vdv.4	+	1	1802	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E573K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E573K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	573					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGAGGACAAAGAATTGCTCTG	0.473000														61			44		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020574	2020574	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:2020574G>A	uc003wpx.4	+	8	1081	c.943G>A	c.(943-945)Gag>Aag	p.E315K	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	315	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCCGCGCGCCGAGTGGTACCG	0.607000														14			15		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230971	7230971	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:7230971C>T	uc003mxb.3	+	9	3131	c.2639C>T	c.(2638-2640)cCc>cTc	p.P880L	RREB1_uc021yky.1_Missense_Mutation_p.P880L|RREB1_uc003mxc.3_Missense_Mutation_p.P880L|RREB1_uc010jnx.3_Missense_Mutation_p.P880L|RREB1_uc021ykz.1_Missense_Mutation_p.P880L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	880	Poly-Pro.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTCCACCTCCCCATGTCTCG	0.622000														85			5		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382962	22382962	+	Missense_Mutation	SNP	C	T	T	rs150917273		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22382962C>T	uc001yuc.1	+	6	1471	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.L164F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGTCCTCATCCTCCGCTTGCC	0.522000														125			53		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25438320	25438320	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:25438320C>T	uc001yzf.1	+	2		c.198C>T			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TCCCAATGGTCCCAGGCCAGC	0.582000									Prader-Willi syndrome					42			18		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093396	30093396	+	RNA	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:30093396C>T	uc010dmc.3	+	0		c.1771C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CTGGGCTTTTCCCACCAGCTC	0.502000														53			85		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055521	49055521	+	Silent	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:49055521C>G	uc002pjl.3	+	0	93	c.12C>G	c.(10-12)ccC>ccG	p.P4P		NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	4					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGGACGGGCCCGCCGAGCCCC	0.672000														13			10		0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829703	24829703	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:24829703C>T	uc002zzx.3	+	4	1095	c.332_splice	c.e4+1	p.R111_splice	SPECC1L_uc021wne.1_Splice_Site|ADORA2A_uc002zzy.4_Splice_Site_p.R111_splice|ADORA2A_uc021wng.1_Splice_Site|ADORA2A_uc011ajs.2_Intron|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guo.1_Splice_Site|ADORA2A_uc010guq.3_Splice_Site_p.R111_splice|ADORA2A_uc010gup.3_Splice_Site_p.R111_splice|ADORA2A_uc003aab.3_Splice_Site_p.R111_splice	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	111					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CATCCCGCTCCGGTGAGCAGG	0.622000														5			20		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54725813	54725813	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54725813G>A	uc010erh.1	-	3	669	c.545C>T	c.(544-546)cCt>cTt	p.P182L	LILRB3_uc002qee.1_Missense_Mutation_p.P182L|LILRB3_uc002qef.1_Missense_Mutation_p.P182L|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Missense_Mutation_p.P182L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Missense_Mutation_p.P182L|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCCACAGGGAACAGGGC	0.592000														4			3		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28880898	28880898	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:28880898G>A	uc001usb.3	-	28	4017	c.3732C>T	c.(3730-3732)ggC>ggT	p.G1244G	FLT1_uc010aap.2_Silent_p.G249G|FLT1_uc010aaq.2_Silent_p.G369G|FLT1_uc001usa.3_Silent_p.G462G	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1244					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGCTGCTGTCGCCCTGGTAGT	0.552000														23			27		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99251235	99251235	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:99251235A>T	uc002bul.3	+	1	589	c.539A>T	c.(538-540)gAc>gTc	p.D180V	IGF1R_uc010urq.2_Missense_Mutation_p.D180V|IGF1R_uc010bon.3_Missense_Mutation_p.D180V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	180					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAATGTGGGGACCTGTGTCCA	0.537000														63			41		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522451	157522451	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:157522451C>T	uc003qqp.3	+	16	4684	c.4684C>T	c.(4684-4686)Ctg>Ttg	p.L1562L	ARID1B_uc003qqo.3_Silent_p.L1575L|ARID1B_uc003qqn.3_Silent_p.L1615L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1562	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.M1562I(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCTCCTTTTCTGCCGTCTAT	0.607000														88			65		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190437583	190437583	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:190437583C>T	uc002uqp.4	-	3	727	c.376G>A	c.(376-378)Gga>Aga	p.G126R	SLC40A1_uc002uqq.2_Missense_Mutation_p.G126R	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	126					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGAACCCATCCATGGTACATG	0.388000														28			28		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318049	30318049	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:30318049G>A	uc009xle.2	-	2	1165	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	KIAA1462_uc001iux.3_Missense_Mutation_p.P343L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P205L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	343	Pro-rich.							p.P343L(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTATGAGGGCGGAGGCACGTA	0.582000														94			57		0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31084664	31084664	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:31084664C>T	uc001wqk.2	+	13	1937	c.1783C>T	c.(1783-1785)Ctt>Ttt	p.L595F	G2E3_uc010tpf.1_Missense_Mutation_p.L549F|G2E3_uc001wql.1_Missense_Mutation_p.L107F	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	595	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGCAAAAATCCTTAGTGAGCT	0.388000														54			41		0	0	1	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28975094	28975094	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:28975094C>T	uc002dru.3	+	7	1185	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	NPIPL1_uc010vct.2_Intron|NFATC2IP_uc002drt.3_Silent_p.S111S|NFATC2IP_uc002drv.3_Silent_p.S109S|NFATC2IP_uc010vdh.2_Silent_p.S98S	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein (NFATC2IP), mRNA.	390	Ubiquitin-like.					cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GGAAGCTCTCCTTCTTCTTTG	0.552000														45			30		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121667	50121667	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:50121667G>A	uc001jhd.3	-	0	614	c.534C>T	c.(532-534)ccC>ccT	p.P178P	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.P178P	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	178						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCTTTGGAAAGGGGTTCCGCT	0.512000														35			24		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604092	140604092	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140604092G>A	uc003ljb.3	+	0	1015	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	339	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAAGTTATGGATATAAACGA	0.408000														54			57		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557177	95557177	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:95557177G>A	uc001kjc.4	+	7	1627	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.D383N|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	431					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TAACATGGAGGATGTGTACGC	0.418000														72			51		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794805	55794805	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55794805G>A	uc010spl.2	+	0	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CCTCCAACTGGATTTTTGTGA	0.438000														154			115		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128844930	128844930	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:128844930T>A	uc003kvb.1	+	2	890	c.890T>A	c.(889-891)aTt>aAt	p.I297N	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	297					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTGGTATCATTTCAGGTAAA	0.383000														47			28		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56749512	56749512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:56749512G>A	uc001slc.3	-	3	564	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	STAT2_uc001sld.3_Nonsense_Mutation_p.Q117*|STAT2_uc010sqn.2_Nonsense_Mutation_p.Q117*	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	121					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CTCTGAGCCTGGATCAAAATT	0.448000														105			51		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55826612	55826612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:55826612C>T	uc010qhy.1	-	18	2535	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N	PCDH15_uc010qhq.2_Missense_Mutation_p.D714N|PCDH15_uc010qhr.2_Missense_Mutation_p.D709N|PCDH15_uc021pqv.1_Missense_Mutation_p.D709N|PCDH15_uc021pqw.1_Missense_Mutation_p.D721N|PCDH15_uc010qht.2_Missense_Mutation_p.D716N|PCDH15_uc021pqx.1_Missense_Mutation_p.D709N|PCDH15_uc001jjv.1_Missense_Mutation_p.D687N|PCDH15_uc021pqy.1_Missense_Mutation_p.D709N|PCDH15_uc021pqz.1_Missense_Mutation_p.D687N|PCDH15_uc010qhv.1_Missense_Mutation_p.D709N|PCDH15_uc010qhw.1_Missense_Mutation_p.D672N|PCDH15_uc010qhx.1_Missense_Mutation_p.D638N|PCDH15_uc010qhz.1_Missense_Mutation_p.D709N|PCDH15_uc010qia.1_Missense_Mutation_p.D687N|PCDH15_uc001jju.1_Missense_Mutation_p.D709N|PCDH15_uc010qib.1_Missense_Mutation_p.D687N|PCDH15_uc001jjw.3_Missense_Mutation_p.D709N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	709	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATTGACATCTGTCACCACT	0.373000										HNSCC(58;0.16)				57			28		0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64027383	64027383	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:64027383A>C	uc001dbf.3	+	10	1646	c.1352A>C	c.(1351-1353)aAt>aCt	p.N451T		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	451							calcium ion binding	p.E450D(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TAAACAGAGAATTTTGATACA	0.259000														45			20		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745107	73745107	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:73745107C>T	uc002jpg.3	+	26	3484	c.3297C>T	c.(3295-3297)acC>acT	p.T1099T	ITGB4_uc002jph.3_Silent_p.T1099T|ITGB4_uc002jpi.4_Silent_p.T1099T|ITGB4_uc002jpj.3_Silent_p.T1099T	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1099					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTCCACCACCATCATCATCA	0.627000														15			6		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221595	5221595	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5221595G>A	uc010qyz.2	-	0	336	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCATGGATGAAATAGGACT	0.512000														36			35		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950530	27950530	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:27950530C>T	uc003zqv.1	-	6	790	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	LINGO2_uc010mjf.1_Missense_Mutation_p.R47Q|LINGO2_uc003zqu.1_Missense_Mutation_p.R47Q|LINGO2_uc022bfc.1_Missense_Mutation_p.R47Q	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	47	LRRNT.					integral to membrane		p.R47*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGCGATCAATCGCCTTCTGTG	0.488000														14			63		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41304175	41304175	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:41304175G>A	uc001cgh.2	+	13	2150	c.2068G>A	c.(2068-2070)Gtc>Atc	p.V690I	KCNQ4_uc001cgi.2_Missense_Mutation_p.V636I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	690					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTCCCGCTCGGTCAGCACCAA	0.667000														53			51		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225343	21225343	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:21225343C>T	uc002red.3	-	28	13079	c.12951G>A	c.(12949-12951)ctG>ctA	p.L4317L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4317					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATCTCTTTCAGCTGTTTAA	0.303000														40			36		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117618239	117618239	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:117618239C>T	uc001egy.3	+	4	1053	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	TTF2_uc001egx.1_Missense_Mutation_p.R345C	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	345					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGGTGAGGGCCGTGAAGCTGC	0.592000														49			21		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798695	38798695	+	Silent	SNP	G	A	A	rs140382462		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:38798695G>A	uc003gtl.3	-	3	2032	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	TLR1_uc021xnn.1_Silent_p.I586I	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	586					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGGTGGCAACGATGGTGACGA	0.502000														104			70		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287813	16287813	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:16287813C>T	uc010gqp.2	-	0	125	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	25										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CACCACTTGCCCATCTTGCTT	0.582000														467			88		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758341	5758341	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5758341G>A	uc001mbt.2	+	0	664	c.595G>A	c.(595-597)Gat>Aat	p.D199N	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CCTGGCTTGTGATGACAGGAG	0.463000														49			55		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114490282	114490282	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:114490282C>T	uc004bfr.3	-	10	1408	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.E386K|C9orf84_uc010mug.3_Missense_Mutation_p.E371K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	425										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTAGATTTTTCATCAATAAGT	0.338000														32			18		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521174	39521174	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39521174G>A	uc002hwl.3	-	5	999	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	318	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCACGTTGGTGATCAGGCTCT	0.617000														46			32		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43170848	43170848	+	Splice_Site	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43170848T>G	uc003ouk.3	+	18	3829	c.3754_splice	c.e18-1	p.V1252_splice	CUL9_uc003oul.3_Splice_Site_p.V1252_splice|CUL9_uc010jyk.3_Splice_Site_p.V404_splice	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1252	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCTACCAGGTGAATGTGATG	0.547000														59			19		0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426061	132426061	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:132426061C>T	uc001ujf.3	+	4	1224	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S	PUS1_uc001ujg.3_Missense_Mutation_p.P229S|PUS1_uc001ujh.3_Missense_Mutation_p.P229S|PUS1_uc001uji.3_Missense_Mutation_p.P204S	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	257						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GCCGCAGGATCCCAGTGCCTG	0.612000														43			30		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970963	10970963	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:10970963G>A	uc003bvz.3	+	9	1343	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	437					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TTACCGGCGGGAGCTGCTCAT	0.567000														67			78		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874310	90874310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:90874310G>A	uc003hst.3	+	7	3499	c.3428G>A	c.(3427-3429)gGa>gAa	p.G1143E	MMRN1_uc010iku.3_Missense_Mutation_p.G446E|MMRN1_uc011cds.2_Missense_Mutation_p.G885E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1143	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCGTATCTTGGAGTATATGTT	0.358000														55			40		0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82563957	82563957	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:82563957C>T	uc002bgv.3	+	1	136	c.67C>T	c.(67-69)Cct>Tct	p.P23S	FAM154B_uc010unr.2_Missense_Mutation_p.P8S|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	23										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GGATTATTGTCCTTATGAAAT	0.333000														28			16		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644114	35644114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:35644114G>A	uc021rid.1	+	8	1843	c.1309G>A	c.(1309-1311)Ggg>Agg	p.G437R	NBEA_uc021ric.1_Missense_Mutation_p.G437R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	437						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTATATGATGGGAAACTTGC	0.358000														20			11		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023266	93023266	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:93023266G>A	uc022axs.1	-	4	886	c.699C>T	c.(697-699)aaC>aaT	p.N233N	RUNX1T1_uc003yfc.2_Silent_p.N147N|RUNX1T1_uc010mam.3_Silent_p.N147N|RUNX1T1_uc003yfe.2_Silent_p.N137N|RUNX1T1_uc003yfd.3_Silent_p.N174N|RUNX1T1_uc022axo.1_Silent_p.N174N|RUNX1T1_uc010mao.3_Silent_p.N147N|RUNX1T1_uc011lgi.2_Silent_p.N185N|RUNX1T1_uc022axp.1_Silent_p.N174N|RUNX1T1_uc022axq.1_Silent_p.N174N|RUNX1T1_uc022axr.1_Silent_p.N174N|RUNX1T1_uc022axt.1_Silent_p.N174N|RUNX1T1_uc022axu.1_Silent_p.N154N|RUNX1T1_uc022axv.1_Silent_p.N174N|RUNX1T1_uc003yfb.2_Silent_p.N137N|RUNX1T1_uc003yff.1_Silent_p.N137N|RUNX1T1_uc003yfg.2_Silent_p.N137N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	174					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCAGTGGGAAGTTAGTAGCTT	0.348000														48			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140855818	140855818	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140855818C>A	uc003lkv.2	+	0	250	c.135C>A	c.(133-135)ttC>ttA	p.F45L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.F45L|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	43	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGGGTTTCGCTGTGGGCA	0.567000														100			69		2.36135e-34	2.4013e-34	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145095956	145095956	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145095956G>A	uc011lkw.2	+	2	1356	c.1254G>A	c.(1252-1254)gtG>gtA	p.V418V	SPATC1_uc011lkx.2_Silent_p.V418V	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	418										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGATGGAGGTGGAACGGAAGC	0.652000														30			30		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111976055	111976055	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:111976055G>A	uc004bdz.1	-	16	1972	c.1677C>T	c.(1675-1677)gcC>gcT	p.A559A		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	559						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTTAGATGGGCAGCGGCTT	0.507000														36			37		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405445	125405445	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:125405445G>A	uc010flu.3	+	12	2351	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E662K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	662	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCAGCATGGAACAGCTGGA	0.627000														11			9		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170394	72170394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:72170394G>A	uc002fcc.4	-	8	1328	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	PMFBP1_uc002fcd.3_Nonsense_Mutation_p.Q386*|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Nonsense_Mutation_p.Q241*	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	386										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AACTCCAGCTGCAGCTCCTGC	0.567000														69			78		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20526788	20526788	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:20526788C>T	uc003gpr.1	+	14	1659	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	SLIT2_uc003gps.1_Intron	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	485					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AACAGTATTTCATTCCAGGTA	0.343000														33			18		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188210949	188210949	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:188210949C>T	uc010frt.3	-	13	1731	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	CALCRL_uc002upv.4_Missense_Mutation_p.E450K	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	450						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGAACATTTTCAATATCATGG	0.373000														12			8		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408872	105408872	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:105408872G>A	uc010axc.1	-	6	13036	c.12916C>T	c.(12916-12918)Ccg>Tcg	p.P4306S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4206S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4306						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.597000														62			164		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618135	111618136	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:111618135_111618136GG>AA	uc004bdi.3	-	0	140_141	c.75_76CC>TT	c.(73-78)ggccct>ggTTct	p.P26S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	26						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGGCGTCAGGGCCGGGCCGTG	0.649000														51			31		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894155	23894155	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23894155G>A	uc001wjx.3	-	21	2608	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	834					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTTGATCTTGAAGTAGAGCT	0.542000														45			36		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941751	5941751	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:5941751C>T	uc001qnm.2	-	4	712	c.640G>A	c.(640-642)Gga>Aga	p.G214R	ANO2_uc021qtt.1_Missense_Mutation_p.G218R	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	219						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGCTGCCTCCTGCTTTGATC	0.507000														16			11		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149499	34149499	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:34149499C>T	uc004ddg.3	-	0	949	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	299								p.G299E(1)		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						GACAGAATTTCCCACAAGGGT	0.597000														4			16		0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104170392C>T	uc004bbh.1	+	2	618	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ZNF189_uc004bbg.1_Silent_p.F72F|ZNF189_uc004bbi.1_Silent_p.F100F|ZNF189_uc011lvk.1_Silent_p.F99F|ZNF189_uc022ble.1_Silent_p.F19F	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F114L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378000														36			35		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746427	47746427	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:47746427C>T	uc003gxm.3	-	4	884	c.791G>A	c.(790-792)gGa>gAa	p.G264E	CORIN_uc011bzf.2_Missense_Mutation_p.G125E|CORIN_uc011bzg.2_Missense_Mutation_p.G197E|CORIN_uc011bzh.1_Missense_Mutation_p.G264E|CORIN_uc011bzi.1_Missense_Mutation_p.G264E|CORIN_uc003gxn.4_Missense_Mutation_p.G264E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	264					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.G264*(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACATTGCTTTCCGTTTTCCTG	0.378000														77			49		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739232	62739232	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:62739232C>T	uc001dah.4	-	2	1921	c.1544G>A	c.(1543-1545)gGa>gAa	p.G515E	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	515										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCCCCTGGTTCCTCCCTGAGG	0.597000														84			40		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33564971	33564971	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:33564971C>T	uc021qfs.1	+	0	1095	c.971C>T	c.(970-972)cCt>cTt	p.P324L	C11orf41_uc001mun.1_Missense_Mutation_p.P324L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	324						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						AATCCCCTTCCTTCAGGACCA	0.488000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		107			96		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906298	56906298	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:56906298C>T	uc002ekd.4	+	6	917	c.888C>T	c.(886-888)tcC>tcT	p.S296S	SLC12A3_uc010ccm.3_Silent_p.S296S|SLC12A3_uc010ccn.3_Silent_p.S295S	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	296					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCATGGTCTCCTTTGCCAACT	0.567000														31			13		0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114193713	114193713	+	Silent	SNP	C	T	T	rs142041655	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:114193713C>T	uc001vtu.4	+	9	1942	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	527						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGGGCTGTTTCCTGGCTGGAG	0.627000														32			29		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419792	25419792	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:25419792C>T	uc003gro.3	+	28	2344	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ANAPC4_uc003grp.3_Missense_Mutation_p.R625C|ANAPC4_uc003grq.3_Missense_Mutation_p.R192C	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	739					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTCAAATCTTCGTCATGTGAG	0.328000														100			72		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497478	157497478	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:157497478C>T	uc009wsm.3	-	8	2047	c.1889G>A	c.(1888-1890)gGa>gAa	p.G630E	FCRL5_uc001fqu.3_Missense_Mutation_p.G630E|FCRL5_uc010phv.1_Missense_Mutation_p.G630E|FCRL5_uc010phw.1_Missense_Mutation_p.G545E	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	630	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGTAGTTTCCAGAATGTTC	0.488000														153			17		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221390	5221390	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5221390G>A	uc010qyz.2	-	0	541	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGATGTGGAAATGACAG	0.393000														61			43		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085183	113085183	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:113085183C>T	uc021qqp.1	+	7	1375	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	NCAM1_uc001pno.3_Missense_Mutation_p.P219S|NCAM1_uc001pnp.3_Missense_Mutation_p.P335S|NCAM1_uc021qqo.1_Missense_Mutation_p.P335S|NCAM1_uc001pnq.3_Missense_Mutation_p.P335S|NCAM1_uc001pnr.3_Missense_Mutation_p.P335S	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	337	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGACCCCATTCCCTCCATCAC	0.502000														19			6		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158648325	158648325	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158648325C>T	uc001fst.1	-	6	878	c.679_splice	c.e6-1	p.E227_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	227					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)					GATGGTTTTCCTGTTGAAGGA	0.378000														31			66		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647444	38647444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38647444C>T	uc021wvo.1	-	8	1388	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SCN5A_uc021wvk.1_Missense_Mutation_p.E446K|SCN5A_uc021wvl.1_Missense_Mutation_p.E446K|SCN5A_uc021wvm.1_Missense_Mutation_p.E446K|SCN5A_uc021wvn.1_Missense_Mutation_p.E446K|SCN5A_uc021wvp.1_Missense_Mutation_p.E446K|SCN5A_uc021wvq.1_Missense_Mutation_p.E446K|SCN5A_uc021wvr.1_Missense_Mutation_p.E446K|SCN5A_uc021wvs.1_Missense_Mutation_p.E446K|SCN5A_uc021wvt.1_Missense_Mutation_p.E446K|SCN5A_uc021wvu.1_Missense_Mutation_p.E446K|SCN5A_uc021wvv.1_Missense_Mutation_p.E446K|SCN5A_uc021wvj.1_Missense_Mutation_p.E312K|SCN5A_uc021wvi.1_Missense_Mutation_p.E312K|SCN5A_uc021wvw.1_Missense_Mutation_p.E57K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	446					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.H445P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCACCCACCTCGTGTTCTTTC	0.562000														17			20		0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107019922	107019922	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:107019922C>T	uc003prj.3	-	8	1617	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	RTN4IP1_uc010kdd.3_3'UTR|RTN4IP1_uc003prk.3_Silent_p.L280L	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1), nuclear gene encoding mitochondrial protein, mRNA.	380						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTCCACCTTCAGGAAGGCTT	0.388000														46			38		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120243	94120243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:94120243G>A	uc003poe.3	-	2	1049	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	EPHA7_uc003pof.3_Nonsense_Mutation_p.Q270*|EPHA7_uc011eac.2_Nonsense_Mutation_p.Q270*|EPHA7_uc003pog.4_Nonsense_Mutation_p.Q270*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	270	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTTTTGCTGGTAGCCTGCT	0.413000														46			42		0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1462076	1462076	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1462076G>A	uc001ltm.3	+	3	722	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	BRSK2_uc009ycv.1_Missense_Mutation_p.G111R|BRSK2_uc001lth.1_Missense_Mutation_p.G111R|BRSK2_uc001lti.3_Missense_Mutation_p.G111R|BRSK2_uc001ltl.3_Missense_Mutation_p.G111R|BRSK2_uc001ltj.3_Missense_Mutation_p.G111R|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_5'Flank	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	111	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGTGAAGAAGGGGAGGCTGAC	0.622000														1			4		0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600307	42600307	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42600307G>A	uc002osp.3	-	7	652	c.590C>T	c.(589-591)cCc>cTc	p.P197L	POU2F2_uc002osn.3_Missense_Mutation_p.P181L|POU2F2_uc002osq.3_Missense_Mutation_p.P181L|POU2F2_uc002osr.2_Missense_Mutation_p.P197L	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	197	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CAGATCACTGGGCTCCTCGGG	0.682000														13			14		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12071456	12071456	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:12071456G>A	uc001ila.3	-	1	907	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	UPF2_uc001ilb.3_Missense_Mutation_p.R145C|UPF2_uc001ilc.3_Missense_Mutation_p.R145C|UPF2_uc009xiz.2_Missense_Mutation_p.R145C	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	145					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTTTTGCTACGAAGTTCCTTT	0.373000														97			65		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44940788	44940788	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:44940788G>A	uc001myg.3	+	3	367	c.357G>A	c.(355-357)aaG>aaA	p.K119K	TSPAN18_uc001mye.4_Silent_p.K119K|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	119						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCTTCACCAAGGAGCTCACCA	0.577000														53			21		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152580830	152580830	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152580830G>A	uc021vrb.1	-	5	585	c.556C>T	c.(556-558)Cct>Tct	p.P186S	NEB_uc002txu.3_Missense_Mutation_p.P186S|NEB_uc021vrc.1_Missense_Mutation_p.P186S|NEB_uc010fnx.3_Missense_Mutation_p.P186S|NEB_uc021vrd.1_Missense_Mutation_p.P186S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	186					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		GCATCAGGAGGAAGCAGGTAC	0.507000														19			7		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680759	81680759	+	RNA	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:81680759G>A	uc021puw.1	+	3		c.602G>A			MBL1P_uc001kbg.1_Non-coding_Transcript					Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		GGGCCCCCAGGAAACACAGGG	0.562000														8			11		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37439743	37439743	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:37439743A>C	uc001uvw.3	-	4	1277	c.934T>G	c.(934-936)Tgt>Ggt	p.C312G	SMAD9_uc001uvx.3_Missense_Mutation_p.C275G|SMAD9_uc010tep.2_Missense_Mutation_p.C105G	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	312	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGTCCAAGACAGAATCTGTTC	0.418000														51			30		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236735822	236735822	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:236735822A>G	uc001hyd.2	-	25	3748	c.3596T>C	c.(3595-3597)gTt>gCt	p.V1199A	HEATR1_uc009xgh.2_Missense_Mutation_p.V361A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1199					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAACCTCCAACTTCCTGAAC	0.388000														75			38		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417192	130417192	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:130417192C>T	uc004ewe.4	-	5	997	c.714G>A	c.(712-714)atG>atA	p.M238I	IGSF1_uc004ewd.3_Missense_Mutation_p.M238I|IGSF1_uc022cdv.1_Missense_Mutation_p.M229I|IGSF1_uc004ewf.2_Missense_Mutation_p.M218I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	238	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCAGGTGCCATGATGGGCC	0.483000														3			33		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381620	121381620	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:121381620G>A	uc003yox.3	+	46	5472	c.5207G>A	c.(5206-5208)gGa>gAa	p.G1736E	COL14A1_uc003yoz.3_Missense_Mutation_p.G701E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1736	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCTCTCCTGGACCAAGAGGC	0.592000														33			34		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10400485	10400485	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10400485C>T	uc002gmo.3	-	32	4651	c.4557G>A	c.(4555-4557)caG>caA	p.Q1519Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1519						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTGCAATCTGTTCAGTGA	0.363000														28			15		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104634	74104634	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:74104634C>T	uc003pgw.3	+	0	350	c.6C>T	c.(4-6)tcC>tcT	p.S2S	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	2						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAACAATGTCCCACCACGGAG	0.642000														36			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179580394	179580394	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179580394A>T	uc021vsy.1	-	85	22240	c.22015T>A	c.(22015-22017)Tgg>Agg	p.W7339R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.W4000R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8266	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTATACCATAAAACTTTG	0.398000														21			13		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925324	27925324	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:27925324C>T	uc011dkx.2	+	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCAGCTTTTCATATTTCTGG	0.433000														137			17		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428366	135428366	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135428366G>A	uc004ezu.1	+	5	2792	c.2501G>A	c.(2500-2502)aGa>aAa	p.R834K	GPR112_uc010nsb.1_Missense_Mutation_p.R629K|GPR112_uc010nsc.1_Missense_Mutation_p.R601K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	834					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)					ACAACACAAAGATTAAATGCC	0.398000														14			79		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96652077	96652077	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:96652077C>T	uc003pop.4	+	2	1387	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	FUT9_uc021zcw.1_Missense_Mutation_p.S349F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	349					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAATATAAGTCTGTTGGTAAT	0.333000														59			45		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101235571	101235571	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:101235571C>T	uc004ays.3	-	5	1316	c.856G>A	c.(856-858)Gag>Aag	p.E286K		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	286					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAAGAAGGCTCGTACCAGCCC	0.522000														36			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638751	179638751	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179638751C>T	uc021vsy.1	-	30	7369	c.7144G>A	c.(7144-7146)Gaa>Aaa	p.E2382K	TTN_uc021vsz.1_Missense_Mutation_p.E2336K|TTN_uc021vta.1_Missense_Mutation_p.E2336K|TTN_uc021vtb.1_Missense_Mutation_p.E2336K|TTN_uc002unb.2_Missense_Mutation_p.E2382K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2382	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACACTTTCCAAGGAGACT	0.468000														65			57		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542052	46542052	+	Missense_Mutation	SNP	G	A	A	rs116177254	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46542052G>A	uc003cps.1	+	1	430	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	121					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGGTGTTCCGAATTCTGAAG	0.443000														85			51		0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46609933	46609933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:46609933C>T	uc003oyf.1	-	1	484	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	CYP39A1_uc011dwa.1_Missense_Mutation_p.E94K|CYP39A1_uc010jzd.1_5'UTR	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	94					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						ACTGCTAGTTCAAAATCTACT	0.333000														63			18		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1279655	1279655	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1279655G>A	uc009xhq.3	-	5	1820	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	498	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGATCTCGTAGGGAGAGTGGA	0.557000														65			59		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196698946	196698946	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:196698946G>A	uc002utj.4	-	47	9185	c.9084C>T	c.(9082-9084)atC>atT	p.I3028I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3028	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACCAAACTGGATGCAATTTT	0.378000														40			26		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13716727	13716727	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13716727C>T	uc003jfd.2	-	73	12820	c.12778G>A	c.(12778-12780)Gat>Aat	p.D4260N	DNAH5_uc003jfc.2_Missense_Mutation_p.D428N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4260					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCTCTTATCATAGTCGTCA	0.378000									Kartagener syndrome					26			30		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283826	63283826	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:63283826G>A	uc001nxc.2	+	8	1316	c.975G>A	c.(973-975)cgG>cgA	p.R325R	LGALS12_uc001nxa.2_Silent_p.R324R|LGALS12_uc001nxb.2_Silent_p.R315R|LGALS12_uc001nxd.2_Silent_p.R263R|LGALS12_uc001nxe.2_Silent_p.R254R|LGALS12_uc009yot.2_Silent_p.R284R	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	324	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GGGAGCTCCGGATCAGTGGAA	0.627000														34			20		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133876441	133876441	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:133876441G>A	uc003vrm.1	+	11	1385	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	457	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTACTTTGGAGAAGGGGATCG	0.353000														62			37		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616571	1616571	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:1616571G>A	uc003wpl.3	+	5	1744	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	DLGAP2_uc003wpm.3_Silent_p.V549V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	628					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGATCTCGGTGACGGCGCAGA	0.597000														7			6		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735880	30735880	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30735880C>T	uc002dze.1	+	24	5520	c.5135C>T	c.(5134-5136)cCa>cTa	p.P1712L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1507L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1712	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACCCTTTCCAACTCAGACA	0.562000														108			60		0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680239	4680239	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:4680239C>T	uc021wae.1	+	0	373	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	PRNP_uc002wkt.1_Missense_Mutation_p.L95F|PRNP_uc002wku.3_Missense_Mutation_p.L125F|PRNP_uc002wkv.3_Missense_Mutation_p.L125F|PRNP_uc002wkw.3_Missense_Mutation_p.L125F|PRNP_uc002wkx.3_Missense_Mutation_p.L125F|PRNP_uc002wky.3_Missense_Mutation_p.L125F|PRNP_uc010gbe.1_Missense_Mutation_p.L125F	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	125	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GGTGGGGGGCCTTGGCGGCTA	0.562000														49			39		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816394	156816394	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156816394C>A	uc010pht.2	-	7	2026	c.1727G>T	c.(1726-1728)cGg>cTg	p.R576L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	576	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGTGATGGCCCGCACAAACAC	0.612000														46			19		7.45023e-12	7.51132e-12	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87694022	87694022	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:87694022C>T	uc003hpz.3	+	31	5740	c.5260C>T	c.(5260-5262)Cat>Tat	p.H1754Y	PTPN13_uc003hpy.3_Missense_Mutation_p.H1759Y|PTPN13_uc003hqa.3_Missense_Mutation_p.H1735Y|PTPN13_uc003hqb.3_Missense_Mutation_p.H1563Y|PTPN13_uc003hqc.1_Missense_Mutation_p.H120Y	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1754						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S1754L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATAAGTATCATATACATCA	0.408000														53			37		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19234463	19234463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:19234463C>T	uc002dfw.3	+	5	1379	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	SYT17_uc002dfx.3_Nonsense_Mutation_p.Q289*|SYT17_uc002dfy.3_Nonsense_Mutation_p.Q346*	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	350	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GCAACTTCTTCAGACAGATGT	0.468000														33			17		0	0	1	0	0
ZNF788	388507	broad.mit.edu	37	19	12223031	12223031	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:12223031C>T	uc002mtd.3	+	2	1306	c.669C>T	c.(667-669)ccC>ccT	p.P223P						Homo sapiens zinc finger family member 788 (ZNF788), non-coding RNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGGAGAAACCCTATGAATGTA	0.428000														11			6		0	0	1	0	0
ANP32D	23519	broad.mit.edu	37	12	48866516	48866516	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:48866516C>T	uc010slt.2	+	0	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	23										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAACTTTTCCTGGACAACA	0.453000														99			42		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084776	100084776	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100084776G>A	uc003uvd.1	+	2	560	c.401G>A	c.(400-402)gGg>gAg	p.G134E	NYAP1_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	134																	CCTGGGTCTGGGGCAGAGACG	0.672000														13			7		0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119527	18119528	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:18119527_18119528GG>AA	uc002nhv.3	+	1	425_426	c.282_283GG>AA	c.(280-285)ggggag>ggAAag	p.E95K	ARRDC2_uc002nhu.3_Missense_Mutation_p.E90K	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	95								p.G89G(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CAGATACCGGGGAGACCACGAC	0.653000														40			27		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379709	145379709	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:145379709G>A	uc003lnt.3	+	2	705	c.467G>A	c.(466-468)aGa>aAa	p.R156K	SH3RF2_uc011dbl.1_Missense_Mutation_p.R156K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	156	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTCCGGAGACAGCTTGAT	0.547000														53			20		0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44182286	44182286	+	Silent	SNP	C	T	T	rs147262068		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:44182286C>T	uc002zbm.3	+	13	1242	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	PDE9A_uc002zbn.3_Silent_p.L266L|PDE9A_uc002zbo.3_Silent_p.L340L|PDE9A_uc002zbp.3_Silent_p.L186L|PDE9A_uc002zbq.3_Silent_p.L291L|PDE9A_uc002zbs.3_Silent_p.L186L|PDE9A_uc002zbr.3_Silent_p.L186L|PDE9A_uc002zbt.3_Silent_p.L265L|PDE9A_uc002zbu.3_Silent_p.L259L|PDE9A_uc002zbv.3_Silent_p.L233L|PDE9A_uc002zbw.3_Silent_p.L176L|PDE9A_uc002zbx.3_Silent_p.L333L|PDE9A_uc002zby.3_Silent_p.L176L|PDE9A_uc002zbz.3_Silent_p.L285L|PDE9A_uc002zca.3_Silent_p.L352L|PDE9A_uc002zcb.3_Silent_p.L367L|PDE9A_uc002zcc.3_Silent_p.L292L|PDE9A_uc002zcd.3_Silent_p.L307L|PDE9A_uc002zce.3_Silent_p.L326L|PDE9A_uc002zcf.3_Silent_p.L186L|PDE9A_uc002zcg.3_Silent_p.L186L|PDE9A_uc010gpf.1_Silent_p.L186L	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	393	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TCCAGATCCTCGCCGAGCCTG	0.622000														30			24		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76794427	76794427	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76794427C>T	uc003hix.3	-	11	1716	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.E453E	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	453	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTGCAGCCCTCTTGAGCCA	0.438000														50			32		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674184	3674184	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:3674184T>G	uc002wja.3	-	12	3418	c.3418A>C	c.(3418-3420)Aca>Cca	p.T1140P	SIGLEC1_uc002wiz.4_Missense_Mutation_p.T1140P|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1140	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCCCTGACTGTGACGTTGGGC	0.657000														16			11		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	112783	112783	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:112783A>G	uc002cfl.4	-	5	928	c.785T>C	c.(784-786)tTc>tCc	p.F262S	RHBDF1_uc010uty.2_Missense_Mutation_p.F285S|RHBDF1_uc010utz.2_Missense_Mutation_p.F262S|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	262					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCGGGCAAAGAAGGATGTGTC	0.587000														13			83		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087098	9087098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9087098C>T	uc002mkp.3	-	0	4921	c.4717G>A	c.(4717-4719)Gat>Aat	p.D1573N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1573	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTTTGATCTTTGAGTGAC	0.502000														131			85		0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38259166	38259166	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:38259166G>A	uc003tfr.3	+	7	827	c.554_splice	c.e7-1	p.R185_splice		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	185	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TCTCTTCCAGGACTCCTGATA	0.398000														39			23		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33242996	33242996	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:33242996C>T	uc001wrq.3	+	11	3655	c.3485C>T	c.(3484-3486)cCc>cTc	p.P1162L	BC039319_uc001wrr.3_5'Flank	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1162					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACCACCAGCCCATGCAGCTG	0.488000														52			43		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284429	27284429	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27284429G>A	uc002hdp.2	-	11	2625	c.2431C>T	c.(2431-2433)Ctc>Ttc	p.L811F	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.L811F|SEZ6_uc002hdq.1_Missense_Mutation_p.L686F	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	811	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGGCAGGTGAGGATGGAGCTG	0.577000														87			69		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952976	56952976	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56952976C>T	uc002qne.3	-	6	2179	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	ZNF667_uc010etl.3_Missense_Mutation_p.R245K|ZNF667_uc002qnd.3_Missense_Mutation_p.R463K|ZNF667_uc010etm.3_Missense_Mutation_p.R406K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGTATGAATTCTTTGATGTTC	0.358000														44			27		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42486143	42486143	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42486143G>A	uc002osh.3	-	8	1263	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I	ATP1A3_uc010xwf.2_Missense_Mutation_p.T381I|ATP1A3_uc010xwg.2_Missense_Mutation_p.T340I|ATP1A3_uc002osg.3_Missense_Mutation_p.T370I|ATP1A3_uc010xwh.2_Missense_Mutation_p.T383I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	370					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTGAGTGAGGGTCCCTGTCTT	0.602000														110			67		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948817	38948817	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:38948817C>T	uc002oit.3	+	17	2182	c.2052C>T	c.(2050-2052)ggC>ggT	p.G684G	RYR1_uc002oiu.3_Silent_p.G684G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	684	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCGGGTGGGCTGGGCCCTCA	0.637000														59			40		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074732	185074732	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:185074732C>T	uc003iwc.3	-	1	538	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGTAGACCTTCCTTTTGGCCT	0.473000														29			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179468656	179468656	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179468656C>T	uc021vsy.1	-	230	47279	c.47054G>A	c.(47053-47055)gGa>gAa	p.G15685E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9380E|TTN_uc021vta.1_Missense_Mutation_p.G9313E|TTN_uc021vtb.1_Missense_Mutation_p.G9188E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16612	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACCAATTCCTGCAGCATT	0.443000														88			81		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223225	35223225	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:35223225G>A	uc001bxu.3	+	1	394	c.294G>A	c.(292-294)cgG>cgA	p.R98R	GJB5_uc021okz.1_Silent_p.R98R|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	98					cell communication|epidermis development	connexon complex|integral to membrane		p.R98W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGGCCTACCGGGAGGTTCAGG	0.612000														46			57		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293704	50293704	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:50293704C>T	uc003cyq.1	+	4	666	c.545C>T	c.(544-546)aCc>aTc	p.T182I	GNAI2_uc003cyo.1_Missense_Mutation_p.T166I|GNAI2_uc003cyp.1_Missense_Mutation_p.T166I|GNAI2_uc010hlg.1_Missense_Mutation_p.T101I|GNAI2_uc011bdn.2_Missense_Mutation_p.T145I|GNAI2_uc003cyr.1_Missense_Mutation_p.T101I	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	182					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CGCGTAAAGACCACGGGGATC	0.597000														35			26		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955621	18955621	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:18955621G>A	uc001mpg.3	-	0	929	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	237					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATAAAAATAGGAAAAACTGAA	0.488000														31			31		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6972356	6972356	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6972356C>T	uc001qri.4	+	14	1828	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	USP5_uc001qrh.4_Missense_Mutation_p.S590F	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	590					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACAGATGTGTCCATCGAGATG	0.607000														26			16		0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168822	64168822	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:64168822C>T	uc003ttd.3	+	6	2926	c.2140C>T	c.(2140-2142)Cat>Tat	p.H714Y	ZNF107_uc003tte.3_Missense_Mutation_p.H714Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAAAATTCATACTTCAGA	0.338000														26			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68931864	68931864	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:68931864A>G	uc003xxv.1	+	2	321	c.294A>G	c.(292-294)gaA>gaG	p.E98E	PREX2_uc003xxu.1_Silent_p.E98E|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	98	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TACACCCCGAACCTAATGCTC	0.338000														32			17		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885991	60885991	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:60885991G>A	uc002ycq.3	-	73	10315	c.10248C>T	c.(10246-10248)agC>agT	p.S3416S	LAMA5_uc021wfw.1_Silent_p.S3416S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3416	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCGCTGGCGGCTCTGGGCGC	0.701000														14			14		0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779894	20779894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20779894G>A	uc021rnp.1	-	6	1260	c.649C>T	c.(649-651)Cct>Tct	p.P217S	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.P217S|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.P217S|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.P217S|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.P217S	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	217						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TTATCCAAAGGAAACTTGGAG	0.373000			T	HMGA2	leiomyoma									43			34		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450948	155450948	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155450948G>A	uc009wqq.3	-	2	2193	c.1713C>T	c.(1711-1713)ccC>ccT	p.P571P	ASH1L_uc001fkt.3_Silent_p.P571P|ASH1L_uc009wqr.1_Silent_p.P571P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	571					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTTTCAGGGGGACTTCTGG	0.403000														41			78		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175683	143175683	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143175683C>T	uc003wdc.1	+	0	718	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	240					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATCTCCTTCCTCATTCTTTA	0.507000														37			30		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307246	14307246	+	Missense_Mutation	SNP	G	A	A	rs150799973		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:14307246G>A	uc021war.1	-	0	907	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.R303C|FLRT3_uc002wow.2_Missense_Mutation_p.R303C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	303					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R303C(2)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGATTGTTGCGAAGAATCAGT	0.438000														52			43		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934978	113934978	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:113934978G>A	uc001pop.3	+	1	1220	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	ZBTB16_uc001poo.1_Missense_Mutation_p.R319Q|ZBTB16_uc001poq.3_Missense_Mutation_p.R319Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	319					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCCACTGGCCGACCTGAGCAC	0.637000														33			19		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927909	95927909	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:95927909G>A	uc001teg.3	-	1	268	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	USP44_uc001teh.3_Missense_Mutation_p.L42F|USP44_uc009zte.3_Missense_Mutation_p.L39F	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	42					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAGCAGCTAAGGCAAGCCCAA	0.498000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477564	179477564	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179477564C>T	uc021vsy.1	-	213	42405	c.42180G>A	c.(42178-42180)gtG>gtA	p.V14060V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V7755V|TTN_uc021vta.1_Silent_p.V7688V|TTN_uc021vtb.1_Silent_p.V7563V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14987	Fibronectin type-III 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCTTATTCACAGCTCTAA	0.512000														29			15		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466836	10466836	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:10466836G>A	uc003wtc.3	-	3	5001	c.4772C>T	c.(4771-4773)cCa>cTa	p.P1591L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1591					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCCCTTGGAGGCTCCAG	0.687000														10			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871819	13871819	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13871819C>T	uc003jfd.2	-	22	3494	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1151	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTCTTTTCCCTTTTGCCA	0.353000									Kartagener syndrome					46			28		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563735	176563735	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176563735G>A	uc001gkz.3	+	2	2159	c.995G>A	c.(994-996)gGa>gAa	p.G332E	PAPPA2_uc001gky.1_Missense_Mutation_p.G332E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	332					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAGGACAAGGGAAAGCGGGAT	0.562000														51			35		0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	830879	830879	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:830879G>T	uc002lpz.1	+	3	548	c.532G>T	c.(532-534)Gac>Tac	p.D178Y		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	178	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCCCCGAGGACCAGTGTCG	0.672000														21			15		4.14922e-12	4.18636e-12	1	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27999275	27999275	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:27999275G>A	uc004dbx.1	-	0	292	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	59										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CATCGTTCAGGAAACCACCAT	0.507000														5			36		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112143933	112143933	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:112143933G>A	uc004bed.2	-	25	2776	c.2664_splice	c.e25+1	p.S888_splice	PTPN3_uc004beb.2_Splice_Site_p.S757_splice|PTPN3_uc004bec.2_Splice_Site_p.S712_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.S843_splice|PTPN3_uc011lwh.1_Splice_Site_p.S734_splice|PTPN3_uc011lwd.1_Splice_Site_p.S356_splice|PTPN3_uc011lwe.1_Splice_Site_p.S601_splice|PTPN3_uc011lwf.1_Splice_Site_p.S556_splice	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	888	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCTACTCACTGATGTCTGCAC	0.512000														68			26		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156907966	156907966	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:156907966C>T	uc003lwz.3	-	22	2827	c.2748G>A	c.(2746-2748)tcG>tcA	p.S916S	ADAM19_uc003lww.2_Intron|ADAM19_uc003lwy.3_Intron|ADAM19_uc021ygq.1_5'Flank	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	0					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTAGATTTTCGAGCTAATCA	0.517000														24			10		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256071	146256071	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:146256071G>A	uc003qlf.3	-	12	3361	c.2962C>T	c.(2962-2964)Cgt>Tgt	p.R988C	SHPRH_uc003qle.3_Missense_Mutation_p.R988C|SHPRH_uc003qlg.1_Missense_Mutation_p.R544C|SHPRH_uc003qlj.1_Missense_Mutation_p.R877C|SHPRH_uc003qlh.3_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	988					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AACTCTCCACGAACAGCCTGT	0.453000														60			43		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27239712	27239712	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27239712G>A	uc002hdg.1	-	8	2407	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L	PHF12_uc010wbb.1_Missense_Mutation_p.P608L|PHF12_uc002hdi.1_Missense_Mutation_p.P622L|PHF12_uc002hdj.1_Missense_Mutation_p.P626L|PHF12_uc010crw.1_Missense_Mutation_p.P329L|PHF12_uc002hdh.1_Missense_Mutation_p.P409L	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	626	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGGAATGGAAGGGGGCAGGCT	0.542000														55			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595520	179595520	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179595520C>T	uc021vsy.1	-	58	14234	c.14009_splice	c.e58-1	p.D4670_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.D1331_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5597	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATAAGATCTATTCAATGA	0.318000														64			48		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970855	151970855	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151970855G>A	uc003wla.3	-	6	1166	c.947C>T	c.(946-948)aCc>aTc	p.T316I		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	316			T -> S (in dbSNP:rs10454320).		intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.T316S(3)|p.G315G(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCCTGAAAGGTGCCGGCTCC	0.433000			N		medulloblastoma									183			16		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964316	48964316	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:48964316C>T	uc010kyv.1	+	0	160	c.48C>T	c.(46-48)gaC>gaT	p.D16D						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		ACCCCCAGGACGACGTGTACG	0.577000														41			21		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131624181	131624181	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:131624181G>A	uc011blq.2	-	1	271	c.161C>T	c.(160-162)tCt>tTt	p.S54F	CPNE4_uc003eok.3_Missense_Mutation_p.S36F|CPNE4_uc003eol.3_Missense_Mutation_p.S54F|CPNE4_uc003eom.3_Missense_Mutation_p.S36F	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	36	C2 1.							p.Q53H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATCTCTGTCAGAAATGCCTTT	0.502000														46			32		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244667	46244667	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:46244667C>T	uc001ros.1	+	14	2761	c.2761C>T	c.(2761-2763)Cca>Tca	p.P921S	ARID2_uc001ror.3_Missense_Mutation_p.P921S|ARID2_uc009zkg.1_Missense_Mutation_p.P377S|ARID2_uc009zkh.1_Missense_Mutation_p.P548S|ARID2_uc001rou.1_Missense_Mutation_p.P255S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	921	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACCACAGCAGCCAACCCAACA	0.473000			"""N, S, F"""		hepatocellular carcinoma									101			66		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663617	117663617	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117663617G>A	uc003pxp.1	-	27	4814	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1539	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTTCCAAAGGATCTGAATAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									33			26		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167284417	167284417	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:167284417C>T	uc002udu.2	-	16	2864	c.2734G>A	c.(2734-2736)Gga>Aga	p.G912R	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	912					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTGGATGCTCCACTGATTTGA	0.383000														25			20		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58439317	58439317	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:58439317G>A	uc002qqs.1	-	3	524	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_5'UTR	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GCCTTCTTGGGAGACACACCT	0.502000														49			39		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470395	44470395	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:44470395C>T	uc002oxx.2	+	5	1069	c.741C>T	c.(739-741)gtC>gtT	p.V247V	ZNF221_uc010ejb.1_Silent_p.V247V|ZNF221_uc010xws.1_Silent_p.V247V	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCAGAGAGTCCATACTGGAG	0.403000														146			115		0	0	1	0	0
CCDC3	83643	broad.mit.edu	37	10	12940626	12940626	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:12940626C>T	uc001ilq.1	-	2	737	c.603G>A	c.(601-603)aaG>aaA	p.K201K	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	201						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GCTGCAGTTTCTTGACGTGGT	0.597000														37			23		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31782215	31782215	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:31782215A>G	uc001wrf.4	-	27	4585	c.4400T>C	c.(4399-4401)tTa>tCa	p.L1467S	HEATR5A_uc010ami.3_Missense_Mutation_p.L1072S	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1461							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGCAAAGTTAAAAGAGCAAA	0.398000														37			27		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45877933	45877933	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:45877933G>A	uc001jce.3	+	1	252	c.153G>A	c.(151-153)gtG>gtA	p.V51V	ALOX5_uc009xmt.3_Silent_p.V51V|ALOX5_uc010qfg.2_Silent_p.V51V|ALOX5_uc021ppr.1_Silent_p.V51V	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	51	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTCCCAGGTGGATTCATACG	0.532000														43			22		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32235106	32235106	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:32235106A>C	uc003jhq.3	-	13	1644	c.1474T>G	c.(1474-1476)Ttc>Gtc	p.F492V	MTMR12_uc010iuk.3_Missense_Mutation_p.F492V|MTMR12_uc010iul.3_Intron	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	492	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTGAAGAAGAAGGTGCTAAAA	0.428000														34			27		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15575055	15575055	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15575055G>A	uc002nbe.2	-	1	201	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	39					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGGCCCCAGCGGAACCCTCCA	0.692000														6			3		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118560418	118560418	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:118560418C>T	uc010jcl.1	+	37	8473	c.8292C>T	c.(8290-8292)gcC>gcT	p.A2764A	DMXL1_uc003ksd.2_Silent_p.A2743A|DMXL1_uc021ycw.1_Silent_p.A2570A|DMXL1_uc010jcm.1_Non-coding_Transcript	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2743										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTAAGAAAGCCATTAATAATG	0.244000														61			25		0	0	1	0	0
CCDC48	79825	broad.mit.edu	37	3	128755913	128755913	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:128755913G>A	uc011bkt.2	+	5	1543	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA.	515										breast(1)|kidney(2)|lung(2)|skin(1)	6						CCTGCTGGAGGAGAAGCTGGT	0.617000														21			9		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072257	240072257	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:240072257C>T	uc021plc.1	+	0	1506	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	CHRM3_uc001hyp.3_Silent_p.I502I	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	502					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTTCATCATCACTTGGACCC	0.493000														162			48		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243303361	243303361	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:243303361G>A	uc021plo.1	-	15	4516	c.4108C>T	c.(4108-4110)Cca>Tca	p.P1370S	CEP170_uc021plp.1_Missense_Mutation_p.P1246S|CEP170_uc021plq.1_Missense_Mutation_p.P1272S|CEP170_uc001hzr.3_5'UTR|CEP170_uc001hzv.1_Missense_Mutation_p.P722S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1370	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGAACTAATGGAGGAATCTTT	0.423000														40			48		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627267	108627267	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:108627267G>A	uc002tdv.3	+	8	1969	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	SLC5A7_uc010ywm.2_Missense_Mutation_p.D318N|SLC5A7_uc010fjj.3_Missense_Mutation_p.D565N|SLC5A7_uc010ywn.2_Missense_Mutation_p.D452N	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	565					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGCCTTCCTTGATGTTGATTC	0.393000														31			29		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614213	77614213	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:77614213G>A	uc011bgk.2	+	12	2446	c.1803G>A	c.(1801-1803)gcG>gcA	p.A601A	ROBO2_uc021xat.1_Silent_p.A613A|ROBO2_uc003dpy.4_Silent_p.A597A|ROBO2_uc003dpz.3_Silent_p.A601A|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	597	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTCAGAGCGATCAACCCCC	0.498000														71			59		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31479912	31479912	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:31479912T>A	uc001bsi.1	-	3	583	c.470A>T	c.(469-471)gAa>gTa	p.E157V	PUM1_uc001bsh.1_Missense_Mutation_p.E157V|PUM1_uc001bsj.1_Missense_Mutation_p.E157V|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.E193V|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	157					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTTGCTGGATTCATCTGTTTC	0.393000														186			84		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180044	132180044	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:132180044C>T	uc010sci.2	+	5	1031	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	NTM_uc001qgm.3_Missense_Mutation_p.P234S|NTM_uc010sch.2_Missense_Mutation_p.P225S|NTM_uc010scj.2_Missense_Mutation_p.P193S|NTM_uc001qgo.3_Missense_Mutation_p.P234S|NTM_uc001qgq.3_Missense_Mutation_p.P234S|NTM_uc001qgp.3_Missense_Mutation_p.P234S	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	234	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.V233V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TACAGGTGTCCCCGTGGGACA	0.473000														95			63		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54916039	54916039	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54916039C>T	uc021smr.1	+	29	6240	c.6240C>T	c.(6238-6240)cgC>cgT	p.R2080R	UNC13C_uc021sms.1_Silent_p.R2082R|UNC13C_uc002acm.3_Silent_p.R3R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2082	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAATGTTCCGCCCCTTTGTGG	0.388000														39			24		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779729	111779729	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:111779729C>T	uc001tsa.2	+	20	3685	c.3531C>T	c.(3529-3531)ccC>ccT	p.P1177P		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCTGGCACCCGAGGAGAAGG	0.652000														45			34		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501728	140501728	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140501728G>A	uc003lip.1	+	0	148	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	50	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.D50H(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCCAAGGATCTGGGCCT	0.542000														62			37		0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97935801	97935801	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:97935801C>T	uc003upj.3	-	10	1454	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	hCG_2023280_uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	397	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGCAACTTCGTGTACGACG	0.567000														47			36		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501778	31501778	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:31501778G>A	uc002ecf.4	+	13	1960	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	647					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCGAGGACCCGAGCTGGGCCC	0.627000														19			3		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887340	3887340	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:3887340C>T	uc003bpt.4	+	1	1776	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L339L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	339						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGTCCCTGCTCTGGAAAGCTT	0.478000														43			29		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965611	6965611	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6965611C>T	uc001qri.4	+	4	640	c.581C>T	c.(580-582)cCc>cTc	p.P194L	USP5_uc001qrh.4_Missense_Mutation_p.P194L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	194					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGAATCCCTCCCTGGTGAGGC	0.627000														55			28		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457359	124457359	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:124457359C>T	uc001lgn.3	-	2	930	c.898G>A	c.(898-900)Gat>Aat	p.D300N		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	300										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GATATAAAATCCTGATTCATT	0.463000														62			56		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781480	128781480	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:128781480C>T	uc001qet.3	+	1	626	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KCNJ5_uc009zck.3_Silent_p.F104F|KCNJ5_uc001qew.3_Silent_p.F104F	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	104					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.F104F(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGCTGTTCTTCGGCTTCATTT	0.527000														70			37		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47655644	47655644	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:47655644C>T	uc003gxm.3	-	12	1862	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	CORIN_uc011bzf.2_Missense_Mutation_p.G451E|CORIN_uc011bzg.2_Missense_Mutation_p.G523E|CORIN_uc011bzh.1_Missense_Mutation_p.G553E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	590	LDL-receptor class A 5.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AACACACTGTCCTGAGCGGCA	0.413000														33			25		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646415	57646415	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:57646415C>T	uc002qnz.1	-	4	1676	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R430R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTTTAATTTCCGGATGAAGG	0.398000														86			72		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576501	111576501	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:111576501C>T	uc003kpv.1	-	9	1076	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	268	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.E268K(2)|p.N267N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATGAGGTTTCGTTACACTAA	0.363000														26			27		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130872849	130872849	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:130872849G>A	uc010fmh.2	-	3	974	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	192						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTGTCCAGCAGGAGTTTTACT	0.428000														106			15		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634363	156634363	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:156634363C>T	uc003iov.3	+	7	1736	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	GUCY1A3_uc010iqc.2_Silent_p.L400L|GUCY1A3_uc010iqd.3_Silent_p.L399L|GUCY1A3_uc003iow.3_Silent_p.L400L|GUCY1A3_uc003iox.3_Silent_p.L400L|GUCY1A3_uc010iqe.3_Silent_p.L165L|GUCY1A3_uc003ioy.3_Silent_p.L400L|GUCY1A3_uc003ioz.3_Silent_p.L165L|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.L400L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	400					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L400L(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGCTCTACCTCTCAGACATCC	0.483000														42			36		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799772	159799772	+	Missense_Mutation	SNP	C	G	G	rs145797656		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159799772C>G	uc001fue.4	+	1	367	c.157C>G	c.(157-159)Ctc>Gtc	p.L53V		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	53						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTGGCGATCTCTCTGGCCTTC	0.617000														132			157		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159207	18159207	+	Missense_Mutation	SNP	G	A	A	rs151309429		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:18159207G>A	uc021qek.1	+	0	458	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	MRGPRX3_uc001mnu.3_Missense_Mutation_p.R153Q	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	153						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCCTGCTGCGGAGTATCCTG	0.537000														82			71		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53912384	53912384	+	Splice_Site	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:53912384C>A	uc003dhd.3	-	3	506	c.405_splice	c.e3+1	p.Q135_splice	ACTR8_uc003dhb.3_5'Flank|ACTR8_uc003dhc.3_Splice_Site_p.Q24_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	135					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTAATCGAACCTGTTCAGGGG	0.368000														102			81		1.63007e-36	1.65827e-36	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137170	40137170	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:40137170C>T	uc021qgf.1	-	0	673	c.673G>A	c.(673-675)Gat>Aat	p.D225N	LRRC4C_uc001mxc.1_Missense_Mutation_p.D221N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D221N|LRRC4C_uc001mxa.1_Missense_Mutation_p.D225N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D221N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	225					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAGAAAGATCCAGCTCATCT	0.458000														69			35		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585056	43585056	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43585056C>T	uc002ovr.3	-	1	579	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	136	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.G136*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTGAAATATCCAGTTACTCC	0.502000														127			75		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827982	40827983	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:40827982_40827983CC>TT	uc002xkg.3	-	15	2572_2573	c.2388_2389GG>AA	c.(2386-2391)agggag>agAAag	p.E797K	PTPRT_uc010ggj.3_Missense_Mutation_p.E816K|PTPRT_uc010ggi.3_5'UTR	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	797					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S797C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCCCATCTCCCTCTGGGCTC	0.554000														145			95		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44635578	44635578	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:44635578C>T	uc002oyj.1	+	4	1054	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	ZNF225_uc010ejf.1_Missense_Mutation_p.H271Y	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGCCTTCATTCATGATTCCCA	0.398000														81			68		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18183173	18183173	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:18183173C>A	uc004cyj.4	-	13	2510	c.2356G>T	c.(2356-2358)Gag>Tag	p.E786*		NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	786										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGCTTTGACTCCTGCTCCAGC	0.502000														16			80		1.91123e-38	1.94502e-38	1	1	0
NMUR2	56923	broad.mit.edu	37	5	151784185	151784185	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:151784185G>A	uc003luv.2	-	0	656	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	164					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.L164I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGATCCTGAGGGCCCGGCGC	0.632000														54			40		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816018	43816018	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43816018C>T	uc001zrt.3	+	3	2814	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	783						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGTGCTGGCCCATTCGAAGC	0.547000														26			18		0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951777	37951777	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:37951777A>T	uc003tfo.4	-	3	1121	c.735T>A	c.(733-735)tgT>tgA	p.C245*		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	245	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.Q244H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGATGTGTGGACACTGGCAAG	0.483000														92			16		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454298	35454298	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:35454298G>A	uc001mwf.3	-	11	1863	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	PAMR1_uc001mwg.3_Missense_Mutation_p.S590F|PAMR1_uc010rew.2_Missense_Mutation_p.S479F|PAMR1_uc010rex.2_Missense_Mutation_p.S550F	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	590	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCCTGGAAGGAAGTGCTGAG	0.597000														25			21		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583260	82583260	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82583260C>T	uc003uhx.2	-	4	7298	c.7009G>A	c.(7009-7011)Gaa>Aaa	p.E2337K	PCLO_uc003uhv.2_Missense_Mutation_p.E2337K|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2268	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACACGGTTTCGGATAAGCTA	0.428000														70			53		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65491422	65491422	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:65491422G>A	uc002aon.2	-	8	1383	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	401					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGGGTTGCAAGGAGTCTCATC	0.468000														28			24		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320012	31320012	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:31320012G>A	uc010dmg.1	+	10	2699	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	ASXL3_uc002kxq.2_Missense_Mutation_p.E589K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCACCATTGGAATTATCTGT	0.373000														48			77		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9764483	9764483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:9764483G>A	uc002gmd.1	+	7	953	c.953G>A	c.(952-954)tGg>tAg	p.W318*		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	318					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTTGTACCCTGGGGTTTCGCC	0.512000														76			51		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200577	132200577	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:132200577C>T	uc002tst.2	-	0	1891	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CCAGCTGGATCTCCCAGTCAC	0.577000														18			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430883	179430883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179430883C>T	uc021vsy.1	-	274	72497	c.72272G>A	c.(72271-72273)gGa>gAa	p.G24091E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17786E|TTN_uc021vta.1_Missense_Mutation_p.G17719E|TTN_uc021vtb.1_Missense_Mutation_p.G17594E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25018	Fibronectin type-III 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTATTTTCCAGCATCATT	0.393000														78			52		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325347	77325347	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:77325347C>T	uc002ffc.4	-	20	3637	c.3218G>A	c.(3217-3219)aGg>aAg	p.R1073K		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1073	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCCCTCTTCCTCACACCCAA	0.483000														129			101		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113421248	113421248	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113421248C>T	uc003ynu.3	-	32	5568	c.5409G>A	c.(5407-5409)caG>caA	p.Q1803Q	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.Q1763Q|CSMD3_uc011lhx.2_Silent_p.Q1699Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1803	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAATACAAACTGGCCAAACA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				53			46		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579897	35579897	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:35579897C>T	uc003xjr.2	+	8	1615	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	UNC5D_uc003xjs.2_Silent_p.F424F|UNC5D_uc003xju.2_5'Flank|UNC5D_uc003xjt.1_Silent_p.F187F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	429					apoptosis|axon guidance	integral to membrane	receptor activity	p.R428S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTTCAACTTCAAAACAGTCC	0.552000														84			63		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339654	231339654	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:231339654C>T	uc009xfn.1	+	5	1618	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	526	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ATGCTGCACCCGTAACAACAG	0.662000														23			8		0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032476	8032476	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8032476G>A	uc002mjb.3	-	4	796	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	210					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTGGTGAACGGGGCCTCCGAA	0.622000														19			13		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74044001	74044001	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:74044001G>A	uc002sjr.1	+	2	2772	c.2651G>A	c.(2650-2652)aGa>aAa	p.R884K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	884										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATGAAGAGAAAGGCTCAA	0.493000														18			15		0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650834	55650834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:55650834G>A	uc004duo.3	+	0	1002	c.690G>A	c.(688-690)tgG>tgA	p.W230*		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	230					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTTTTTCTGGACAGCTCCGG	0.493000														8			51		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904830	73904830	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:73904830C>T	uc011dyh.2	+	14	2896	c.2549C>T	c.(2548-2550)tCt>tTt	p.S850F	KCNQ5_uc011dyi.2_Missense_Mutation_p.S841F|KCNQ5_uc010kat.3_Missense_Mutation_p.S822F|KCNQ5_uc003pgk.3_Missense_Mutation_p.S831F|KCNQ5_uc011dyj.2_Missense_Mutation_p.S721F|KCNQ5_uc011dyk.2_Missense_Mutation_p.S581F	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	831					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S831F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAATCTTTGTCTGTGCAAAAC	0.488000														43			29		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784826	90784826	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:90784826C>T	uc002bpc.3	+	3	865	c.686C>T	c.(685-687)cCc>cTc	p.P229L	GDPGP1_uc021suh.1_Missense_Mutation_p.P229L	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	229					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CACAGACTGCCCGTGGAGCAG	0.632000														37			18		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945788	46945788	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46945788G>A	uc002zhl.2	-	4	1389	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	SLC19A1_uc010gpy.1_Silent_p.T412T|SLC19A1_uc011aft.2_Silent_p.T372T|SLC19A1_uc002zhm.2_Silent_p.T412T|SLC19A1_uc010gpz.2_Silent_p.T291T	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	412					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AAGTGATGATGGTCTTGACGA	0.572000														89			23		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411667	126411667	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126411667C>T	uc003ifj.4	+	16	13690	c.13690C>T	c.(13690-13692)Ccc>Tcc	p.P4564S	FAT4_uc011cgp.2_Missense_Mutation_p.P2805S|FAT4_uc003ifi.1_Missense_Mutation_p.P2041S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4564					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P4564S(1)|p.P4507S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATATCCCTCCCTATGGGGA	0.453000														64			47		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629132	47629132	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:47629132C>T	uc001rpq.3	+	1	811	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	FAM113B_uc001rpn.3_Missense_Mutation_p.R96C|FAM113B_uc021qxi.1_Missense_Mutation_p.R96C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	96							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CTTCCTCACCCGCGTGTACTC	0.597000														86			57		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38183281	38183281	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38183281G>A	uc002hts.3	-	15	1812	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L	MED24_uc010wes.2_Silent_p.L373L|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Silent_p.L513L|MED24_uc002htu.3_Silent_p.L500L|MED24_uc010cwn.3_Silent_p.L500L|MED24_uc010weu.2_Silent_p.L423L|MED24_uc010wev.1_Silent_p.L463L|MED24_uc010wew.1_Silent_p.L454L|MED24_uc010wex.1_Silent_p.L218L|SNORD124_uc010wey.2_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	513					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GACTCGGACAGAATCACCTGG	0.667000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			15		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103107239	103107239	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:103107239T>C	uc001phn.1	+	62	9934	c.9790T>C	c.(9790-9792)Tcc>Ccc	p.S3264P	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.S3264P	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3264	AAA 5 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATGACCTTTCCATAGAAAA	0.299000														40			32		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182423429	182423429	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:182423429G>A	uc002unx.3	-	5	863	c.762C>T	c.(760-762)gtC>gtT	p.V254V	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.V228V|CERKL_uc010zfm.2_Silent_p.V210V|CERKL_uc002unz.3_5'UTR|CERKL_uc002uoa.3_Intron|CERKL_uc002uob.3_5'UTR|CERKL_uc002uoc.3_Intron|CERKL_uc021vth.1_Silent_p.V23V|CERKL_uc021vti.1_5'UTR|CERKL_uc021vtj.1_Intron|CERKL_uc021vtk.1_5'UTR|CERKL_uc021vtl.1_Intron|CERKL_uc021vtm.1_Silent_p.V23V|CERKL_uc002uod.2_Silent_p.V23V|CERKL_uc002uoe.3_Silent_p.V228V	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	254	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CACCAACACAGACAACACTAG	0.398000														38			21		0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150802450	150802450	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:150802450G>A	uc001evr.2	-	10	1163	c.962C>T	c.(961-963)tCc>tTc	p.S321F	ARNT_uc001evs.2_Missense_Mutation_p.S306F|ARNT_uc009wmd.2_Missense_Mutation_p.S306F|ARNT_uc009wmb.2_Intron|ARNT_uc009wmc.2_Missense_Mutation_p.S321F|ARNT_uc009wme.2_Missense_Mutation_p.S321F|ARNT_uc010pcl.2_Missense_Mutation_p.S305F	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	321					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCTGGGAGGGAAACACCTTC	0.438000			T	ETV6	AML									23			28		0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17839312	17839312	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:17839312C>G	uc003gpp.3	+	15	2530	c.2354C>G	c.(2353-2355)cCt>cGt	p.P785R	NCAPG_uc011bxj.2_Missense_Mutation_p.P294R	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	785					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GCCAATGCCCCTGCATCTTCT	0.403000														123			85		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530445	5530445	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5530445C>T	uc021qcw.1	-	0	344	c.344G>A	c.(343-345)gGa>gAa	p.G115E	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.G115E	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	115										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGAGTGATCCAGGACTTGG	0.607000														40			21		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030152	79030152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79030152C>T	uc003kgc.3	+	1	5636	c.5564C>T	c.(5563-5565)tCa>tTa	p.S1855L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1855				S -> G (in Ref. 3; AAH63134).		perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGCAGTTTTCACTTATGAGA	0.333000														50			37		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702427	179702427	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179702427C>T	uc002une.2	-	22	3637	c.3519G>A	c.(3517-3519)ggG>ggA	p.G1173G	CCDC141_uc002unf.1_Silent_p.G652G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	598							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTCGCTCTTCCCCTGTTCCAT	0.483000														54			45		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14364806	14364806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:14364806C>T	uc003jff.3	+	14	2641	c.2635C>T	c.(2635-2637)Cag>Tag	p.Q879*	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Nonsense_Mutation_p.Q830*|TRIO_uc003jfh.1_Nonsense_Mutation_p.Q528*	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	879					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACTCGGGTCCAGGACCTGCT	0.517000											OREG0016458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			32		0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391945	49391945	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:49391945C>T	uc001rsv.1	-	1	732	c.714G>A	c.(712-714)agG>agA	p.R238R		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	238						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCCCCAAGGTCCTATGGGGGC	0.657000														31			24		0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23239997	23239997	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:23239997C>T	uc003svu.3	+	6	1164	c.905C>T	c.(904-906)tCa>tTa	p.S302L	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_Missense_Mutation_p.S74L	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	302	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATCATTTTCATTCAAAAGC	0.517000														23			22		0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53265527	53265527	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:53265527G>A	uc004dsd.3	-	12	3629	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F	IQSEC2_uc004dsc.3_Missense_Mutation_p.S938F	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	1133					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCTCGCAGGGAACTGCTGAG	0.662000														0			6		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716878	13716878	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:13716878G>A	uc001rbt.2	-	12	3473	c.3294C>T	c.(3292-3294)tcC>tcT	p.S1098S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1098					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTCCCTGCGGGACTTGGCCG	0.622000														27			26		0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127459124	127459124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:127459124C>T	uc001liu.3	-	4	1016	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	339	Hemopexin-like 1.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTGCGAATCCAGTCAAACGC	0.373000														39			25		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7359208	7359208	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7359208C>T	uc002ghb.3	+	9	1354	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	CHRNB1_uc010vty.2_Missense_Mutation_p.S366F	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	438					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GAGGTCGTCTCCTCTATCAGC	0.607000														33			24		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190269	209190270	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:209190269_209190270CC>TT	uc002vcz.3	+	19	2892_2893	c.2734_2735CC>TT	c.(2734-2736)ccc>TTc	p.P912F	PIKFYVE_uc010fun.1_Missense_Mutation_p.P593F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P856F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	912					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGTTCCATCCCCTGGGATCCT	0.500000														60			34		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112666033	112666033	+	Silent	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:112666033A>G	uc021reb.1	-	42	6708	c.6312T>C	c.(6310-6312)acT>acC	p.T2104T	C12orf51_uc001ttr.1_5'UTR	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTACCTTCTCAGTAATGGACA	0.468000														35			17		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564406	39564406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:39564406G>A	uc003xni.3	+	17	2055	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G643E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	667					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTGATGATGGAAATTTTCAG	0.323000														37			27		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41327645	41327645	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:41327645G>A	uc001rmm.1	+	8	1063	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CNTN1_uc009zjy.2_Missense_Mutation_p.G317E|CNTN1_uc001rmn.1_Missense_Mutation_p.G306E|CNTN1_uc001rmo.3_Missense_Mutation_p.G317E	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	317	Ig-like C2-type 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AACATTAGAGGAAAGGATAAA	0.343000														43			30		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107937907	107937907	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:107937907A>G	uc001tmk.1	+	2	2002	c.1481A>G	c.(1480-1482)cAg>cGg	p.Q494R	BTBD11_uc009zut.1_Missense_Mutation_p.Q494R|BTBD11_uc001tmj.3_Missense_Mutation_p.Q494R	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	494						integral to membrane	DNA binding	p.L493L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTCAACCTCCAGGTGGAAAGG	0.562000														17			13		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122432	17122432	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:17122432C>T	uc002nfb.3	-	3	576	c.544G>A	c.(544-546)Gac>Aac	p.D182N		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	135						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGGCTTGTCCGTCTGGATG	0.647000														80			35		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899318	133899318	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:133899318C>T	uc003ytw.3	+	8	1742	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	567					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTCAAATTCCTTGCTTCTC	0.443000														59			40		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73376575	73376575	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:73376575C>T	uc004aid.3	-	7	1458	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	TRPM3_uc004ahu.3_Missense_Mutation_p.R235Q|TRPM3_uc004ahv.3_Missense_Mutation_p.R235Q|TRPM3_uc004ahw.3_Missense_Mutation_p.R277Q|TRPM3_uc004ahx.3_Missense_Mutation_p.R252Q|TRPM3_uc004ahy.3_Missense_Mutation_p.R277Q|TRPM3_uc004ahz.3_Missense_Mutation_p.R252Q|TRPM3_uc004aia.3_Missense_Mutation_p.R252Q|TRPM3_uc004aib.3_Missense_Mutation_p.R252Q|TRPM3_uc004aic.3_Missense_Mutation_p.R405Q|TRPM3_uc010mor.3_Missense_Mutation_p.R405Q|TRPM3_uc004aie.3_Missense_Mutation_p.R252Q	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	430						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTTGGGTTCGAGTGTATGT	0.443000														51			23		0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46596376	46596376	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46596376G>A	uc002zgy.2	+	3	1195	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.E254K|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.E254K|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.E254K|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.E303K	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	254	DRBM 2.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTTCCTCTCCGAGAGCGGGGA	0.562000														62			36		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788100	140788100	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140788100G>A	uc003lkj.2	+	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.E111K	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTGGTGGAAAATCCTTT	0.393000														69			42		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561172	44561172	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:44561172C>T	uc002lcr.1	-	0	817	c.464G>A	c.(463-465)aGa>aAa	p.R155K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	155					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGCACTTTCTCTCAGCTCT	0.662000														98			31		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656001	40656001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:40656001C>T	uc002rrx.3	-	0	1444	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	SLC8A1_uc002rry.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E474K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E474K|SLC8A1_uc010fan.1_Missense_Mutation_p.E474K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E474K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	474	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTCTGATTTCCTTCTGGGTA	0.408000														41			29		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879757	149879757	+	Splice_Site	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:149879757A>G	uc001etg.3	-	9	1871	c.1380_splice	c.e9-1	p.S460_splice	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Splice_Site_p.S460_splice	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	460					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCCATAGTAGCTGAAGAGT	0.522000														66			103		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064217	70064217	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:70064217C>T	uc010kak.3	+	25	3828	c.3552C>T	c.(3550-3552)atC>atT	p.I1184I	BAI3_uc003pev.4_Silent_p.I1184I|BAI3_uc011dxx.2_Silent_p.I390I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1184					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGCTCAAATCATGGTGAGTT	0.363000														78			37		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444857	54444857	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54444857C>T	uc002qcr.2	+	3	653	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNG7_uc010era.2_Silent_p.F186F	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	186					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTCCTCCTTCCTACTCAAAG	0.547000														74			43		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378951	55378951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55378951G>A	uc003pcn.3	-	5	686	c.527C>T	c.(526-528)tCt>tTt	p.S176F	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.S146F|HMGCLL1_uc010jzx.3_Missense_Mutation_p.S47F|HMGCLL1_uc011dxc.2_Missense_Mutation_p.S114F|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Missense_Mutation_p.S114F	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	176							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGGATTCAGATGCAGCTCC	0.343000														72			26		0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70516441	70516441	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:70516441C>T	uc004dzo.3	+	6	1387	c.677C>T	c.(676-678)cCc>cTc	p.P226L	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.P226L|NONO_uc004dzp.3_Missense_Mutation_p.P226L|NONO_uc011mpv.2_Missense_Mutation_p.P137L|NONO_uc004dzq.3_Missense_Mutation_p.P95L	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	226	DBHS.|RRM 2.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ACTGTGGAGCCCATGGACCAG	0.433000			T	TFE3	papillary renal cancer									0			7		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057807	56057807	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:56057807G>A	uc010rje.2	-	0	732	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGACTCCCAAGAGATGAGAGG	0.363000														73			65		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216025	20216025	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20216025C>T	uc010tkt.2	+	0	439	c.439C>T	c.(439-441)Ctt>Ttt	p.L147F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTTGGTTCTTGCCTGCTG	0.493000														68			23		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36160998	36160998	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:36160998C>T	uc003gsq.2	-	13	2910	c.2572G>A	c.(2572-2574)Ggg>Agg	p.G858R		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	858					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.G858L(2)|p.G858V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGACTTTGCCCAGCTTTCTTG	0.468000														82			47		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736216	7736216	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7736216G>A	uc002giu.1	+	82	12962	c.12948G>A	c.(12946-12948)gtG>gtA	p.V4316V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4316					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)				TTTCCACTGTGGATGACAGCA	0.512000														147			101		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641323	145641323	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145641323C>T	uc003zcq.3	-	1	445	c.345G>A	c.(343-345)cgG>cgA	p.R115R	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_Silent_p.R90R	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	115						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			AGAGGCCAGCCCGAGCGTCCT	0.721000														0			3		0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27086421	27086422	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27086421_27086422GG>AA	uc002hct.1	-	2	822_823	c.555_556CC>TT	c.(553-558)tcccac>tcTTac	p.H186Y	FAM222B_uc010wax.1_Missense_Mutation_p.H186Y|FAM222B_uc010way.1_Missense_Mutation_p.H186Y|FAM222B_uc002hcw.3_Missense_Mutation_p.H58Y	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Homo sapiens chromosome 17 open reading frame 63 (C17orf63), transcript variant 2, mRNA.	186	Gln-rich.																CTCTGAGGGTGGGACAGTGCCT	0.703000														8			4		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285606	48285606	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:48285606C>T	uc010rht.2	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGCTACTTATCCTTTGTGGAG	0.488000														32			34		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888670	38888670	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38888670C>T	uc021wvy.1	-	25	5090	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1631K(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCAAACTTTTCCCACACTTCA	0.408000														88			61		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657796	20657796	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:20657796G>A	uc001ytg.3	-	15	2182	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.P491P|HERC2P3_uc010tyy.2_Silent_p.P491P|HERC2P3_uc010tyz.1_3'UTR					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGTTTGCAGGGGAACCGGCT	0.517000														13			12		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29258408	29258408	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:29258408G>A	uc010ezl.3	+	16	2655	c.2304G>A	c.(2302-2304)cgG>cgA	p.R768R	FAM179A_uc010ymm.2_Silent_p.R713R|FAM179A_uc002rmr.4_Silent_p.R295R|FAM179A_uc002rms.1_Silent_p.R66R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	768							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCAGCTACGGGAGCTGACAC	0.662000														7			3		0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80440014	80440014	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:80440014G>C	uc011kgw.2	-	5	584	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	SEMA3C_uc003uhj.3_Missense_Mutation_p.Q151E|SEMA3C_uc011kgx.1_Missense_Mutation_p.Q3E	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	151	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGAAAACTTGGTCCTTTATT	0.338000														44			29		0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61572177	61572177	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:61572177T>A	uc010rlm.2	-	6	1161	c.1033A>T	c.(1033-1035)Atc>Ttc	p.I345F	FADS1_uc001nsh.3_Missense_Mutation_p.I204F|FADS1_uc010rln.1_Missense_Mutation_p.I204F	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	288					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTTCGCTGGATAACAAAATAG	0.542000														33			39		0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42448729	42448729	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:42448729C>T	uc003cle.3	-	1	264	c.15G>A	c.(13-15)gtG>gtA	p.V5V		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	5					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGGAGAGAACCACGGATGCCT	0.557000														37			15		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495333	161495333	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161495333C>T	uc001gaq.3	+	0	1298	c.885C>T	c.(883-885)ttC>ttT	p.F295F	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	295					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGTGGACTTCTACACGTCCA	0.652000														22			24		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828773	28828773	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:28828773G>A	uc002rmb.2	+	41	3059	c.3015G>A	c.(3013-3015)caG>caA	p.Q1005Q	PLB1_uc010ezj.2_Silent_p.Q994Q|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1005	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCCAAATCAGAAATTCCACT	0.517000														100			75		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588871	179588871	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179588871C>T	uc021vsy.1	-	70	17609	c.17384_splice	c.e70-1	p.D5795_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.D2456_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6722	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCTCGGTCTGTGTGAGGA	0.418000														28			9		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33346673	33346673	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:33346673G>A	uc002xav.3	-	6	3149	c.578C>T	c.(577-579)tCc>tTc	p.S193F	NCOA6_uc002xaw.3_Missense_Mutation_p.S193F|NCOA6_uc021wcd.1_Missense_Mutation_p.S193F|NCOA6_uc021wce.1_Missense_Mutation_p.S193F|NCOA6_uc021wcf.1_Missense_Mutation_p.S193F|NCOA6_uc010gew.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	193	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCCATCATGGAAGATGACAC	0.478000														55			37		0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46705812	46705812	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46705812C>T	uc002zhc.3	-	1	188	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Missense_Mutation_p.G55S|POFUT2_uc011afp.1_Missense_Mutation_p.G55S|POFUT2_uc011afq.1_Missense_Mutation_p.G55S|LOC642852_uc002zhf.3_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	55					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		AGGTTGAAGCCTTCCGGGGGG	0.567000														77			56		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70948563	70948563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:70948563C>T	uc003kbs.4	+	15	1694	c.1556C>T	c.(1555-1557)cCt>cTt	p.P519L	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	519	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGGAAACCCTTACTATTCC	0.468000														22			12		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405374	47405374	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:47405374C>T	uc002leb.2	-	23	3505	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	MYO5B_uc002lea.2_Missense_Mutation_p.E214K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1073					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTGAATATTCCTTCACAAGG	0.493000														47			41		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9254895	9254895	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:9254895C>T	uc002knv.3	+	8	1894	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S	ANKRD12_uc002knw.3_Missense_Mutation_p.P521S|ANKRD12_uc002knx.3_Missense_Mutation_p.P521S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P251S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	544						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGGTAAATCTCCCAAACATTC	0.338000														62			40		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180103	168180103	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:168180103C>T	uc010jjg.3	-	18	2250	c.1830_splice	c.e18-1	p.L610_splice	SLIT3_uc003mab.3_Splice_Site_p.L610_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	610					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCAGCATCCTACAGGGAG	0.522000														31			18		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125232150	125232150	+	RNA	SNP	A	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:125232150A>T	uc003pzq.3	-	6		c.2584T>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		ATCAGAAATAATAAGAGGATC	0.348000			T	ETV6	B-ALL									42			15		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761178	155761178	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:155761178A>G	uc003qqm.3	-	5	683	c.580T>C	c.(580-582)Ttc>Ctc	p.F194L		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	194	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTCTGATGAACTCAGTTGAC	0.478000														37			36		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795402	109795402	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:109795402G>A	uc001dxa.4	+	0	2762	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	901	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		GATGCCCCCAGCCCGCACACC	0.547000														78			37		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9307339	9307339	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:9307339G>A	uc001qvl.3	-	28	3676	c.3647C>T	c.(3646-3648)tCc>tTc	p.S1216F	PZP_uc009zgl.3_Missense_Mutation_p.S1002F	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAGCACATAGGATGTCATCTC	0.567000														24			15		0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27944633	27944633	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27944633C>T	uc002hel.2	-	4	640	c.638G>A	c.(637-639)aGg>aAg	p.R213K	CORO6_uc002hem.3_Intron|CORO6_uc002hen.3_5'UTR	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	213					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GGCCGCAAACCTCTCCTGGGG	0.662000														3			4		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570877	71570877	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71570877G>A	uc021tkt.1	+	0	297	c.297G>A	c.(295-297)cgG>cgA	p.R99R	CHST4_uc002fan.3_Silent_p.R99R|CHST4_uc002fao.3_Silent_p.R99R	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	99					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R99R(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ATCTGATACGGGCCGTCTTCT	0.587000														48			46		0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871483	2871483	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:2871483C>T	uc002crt.3	+	5	928	c.822C>T	c.(820-822)atC>atT	p.I274I	PRSS21_uc002crr.3_Silent_p.I260I|PRSS21_uc002crs.3_Silent_p.I272I	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	274	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACACCAATATCAGCCACCACT	0.577000														21			9		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730287	141730287	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141730287C>T	uc003vwy.3	+	10	1401	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	449	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCTTGTCATCATTGTGGTAT	0.433000														22			13		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636111	73636111	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:73636111C>T	uc002avp.3	-	1	1818	c.824G>A	c.(823-825)gGa>gAa	p.G275E		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	275					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AATCAGGTTTCCCACCATCAG	0.502000														49			24		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39506834	39506834	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39506834G>A	uc002hwk.1	-	0	223	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	62	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTCGTTCAGGAACTGCATGG	0.627000														79			35		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557560	138557560	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:138557560G>A	uc004cgk.1	+	4	437	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	146						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAAAAGTACGGACTTGGCTCA	0.567000														14			11		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271281	1271281	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:1271281G>A	uc002qwq.3	+	13	1351	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	SNTG2_uc010ewi.3_Missense_Mutation_p.E281K	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	408	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTTGGCAGCGAGCTGGCCAT	0.532000														20			16		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809871	7809871	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7809871C>T	uc002mht.2	-	4	923	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	CD209_uc010xju.1_Missense_Mutation_p.E125K|CD209_uc010dvp.2_Missense_Mutation_p.E262K|CD209_uc002mhr.2_Missense_Mutation_p.E262K|CD209_uc002mhs.2_Missense_Mutation_p.E216K|CD209_uc002mhu.2_Missense_Mutation_p.E194K|CD209_uc010dvq.2_Missense_Mutation_p.E286K|CD209_uc002mhq.2_Missense_Mutation_p.E286K|CD209_uc002mhv.2_Missense_Mutation_p.E262K|CD209_uc002mhx.2_Missense_Mutation_p.E242K|CD209_uc002mhw.2_Missense_Mutation_p.E150K|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	286	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCCCCACTTCTTTGCAGGCG	0.587000														50			29		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2559842	2559842	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:2559842C>T	uc002wgf.1	+	5	711	c.696C>T	c.(694-696)atC>atT	p.I232I	TMC2_uc002wgg.1_Silent_p.I216I|TMC2_uc010zpw.1_Silent_p.I64I|TMC2_uc010zpx.1_Silent_p.I63I	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	232	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCAATGTATCCCCTGGGAAA	0.368000														25			10		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551740	1551740	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:1551740C>T	uc010gai.3	-	3	894	c.795G>A	c.(793-795)gaG>gaA	p.E265E	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	265	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTGCCTGGTTCTCTGCCCTCA	0.547000														39			21		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38555128	38555128	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38555128G>A	uc002huq.3	-	25	3509	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	1117					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.S1117C(2)|p.S1117S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATCTGTTACGGAGTCACTCTT	0.353000														31			19		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46793098	46793098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:46793098C>T	uc011dwh.1	+	6	738	c.730C>T	c.(730-732)Cct>Tct	p.P244S	MEP1A_uc010jzh.1_Missense_Mutation_p.P216S|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.P116S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	216	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCACTACCAGCCTTTCTCATT	0.438000														105			34		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47691438	47691438	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:47691438C>T	uc001cqx.2	-	1	700	c.123G>A	c.(121-123)acG>acA	p.T41T	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Silent_p.T41T|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	41					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CCGCGCGGCTCGTCTCCTTGG	0.766000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									7			11		0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658239	52658239	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:52658239G>A	uc010ydj.2	-	4	3219	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	ZNF836_uc010ydi.2_Silent_p.F899F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCGACTAATGAAAGATTTGC	0.383000														44			25		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458322	16458322	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16458322G>A	uc001aya.2	-	13	2524	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	790	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTCCGGTAGGAAATGGCCTC	0.632000														3			12		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38760228	38760228	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38760228G>A	uc003ciq.3	-	19	3597	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1199					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAGCATCTCGAACACAAAGA	0.498000														51			39		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6595050	6595050	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:6595050T>A	uc003zkc.3	-	8	1418	c.1225A>T	c.(1225-1227)Agg>Tgg	p.R409W		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	409					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTACCCTCCTAGCAATATGC	0.378000														33			93		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876527	35876527	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35876527C>T	uc003jjs.3	+	7	1408	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	440					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTCTTACTTCCCTGGGATCA	0.483000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							17			23		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895343	42895343	+	Silent	SNP	C	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:42895343C>T	uc003gwt.3	+	0	61	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	20					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGTTTCGGATCGCGTCCTCTC	0.507000														85			51		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165338	123165338	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:123165338G>A	uc004bkf.3	-	33	5234	c.5053C>T	c.(5053-5055)Cct>Tct	p.P1685S	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.P694S|CDK5RAP2_uc004bke.3_Missense_Mutation_p.P970S|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.P1606S|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.P950S|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.P950S|CDK5RAP2_uc011lya.2_Missense_Mutation_p.P950S|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P1455S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1685					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.T1684P(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAGAGTGGAGGAGTCTCTGAA	0.517000														49			34		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100507	168100507	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168100507G>A	uc002udx.3	+	8	2694	c.2605G>A	c.(2605-2607)Ggt>Agt	p.G869S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G694S|XIRP2_uc010fpq.3_Missense_Mutation_p.G647S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	694					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGATAATAGGTGGTGATGT	0.378000														111			57		0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496707	124496707	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124496707C>A	uc001ugb.3	+	4	1045	c.16C>A	c.(16-18)Ccc>Acc	p.P6T	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Missense_Mutation_p.P6T|ZNF664_uc021rfz.1_Missense_Mutation_p.P6T	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CTACAAGTGCCCCATGTGTAG	0.368000														54			15		1.05317e-09	1.06023e-09	1	1	0
ITIH2	3698	broad.mit.edu	37	10	7762851	7762851	+	Silent	SNP	G	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:7762851G>A	uc001ijs.3	+	6	825	c.663G>A	c.(661-663)ctG>ctA	p.L221L		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	221					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACAGGGACTGAGATTTCTTC	0.418000														53			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422000	179422001	+	Frame_Shift_Ins	INS	-	CT	CT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179422000_179422001insCT	uc021vsy.1	-	277	80509_80510	c.80284_80285insAG	c.(80284-80286)gtcfs	p.V26762fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.V20457fs|TTN_uc021vta.1_Frame_Shift_Ins_p.V20390fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.V20265fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27689	Ig-like 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTGCCAAGACTGGTTCAGAA	0.401													---	34	---	---	27	---					
SYNCRIP	10492	broad.mit.edu	37	6	86324884	86324884	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:86324884delA	uc003pla.2	-	10	2003	c.1462delT	c.(1462-1464)tatfs	p.Y488fs	SYNCRIP_uc003pku.3_Frame_Shift_Del_p.Y488fs|SYNCRIP_uc003pkv.3_Frame_Shift_Del_p.Y488fs|SYNCRIP_uc003pkw.3_Frame_Shift_Del_p.Y453fs|SYNCRIP_uc003pkx.3_Frame_Shift_Del_p.Y336fs|SYNCRIP_uc003pky.3_Frame_Shift_Del_p.Y390fs|SYNCRIP_uc003pkz.2_Frame_Shift_Del_p.Y453fs	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	488	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAATCTTCATAACCATAGTAT	0.448													---	47	---	---	59	---					
TAS2R3	50831	broad.mit.edu	37	7	141464672	141464674	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141464672_141464674delCTT	uc003vwp.1	+	0	776_778	c.714_716delCTT	c.(712-717)tccttc>tcc	p.F241del		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	241					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					tcatcctttccttcttctttctc	0.448													---	31	---	---	26	---					
SLC45A4	57210	broad.mit.edu	37	8	142222497	142222497	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:142222497delA	uc003ywd.1	-	6	2255	c.1947delT	c.(1945-1947)tctfs	p.S649fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.S649fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.S647fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	700					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AAGAGCCCACAGAGGCCACCA	0.622													---	32	---	---	28	---					
C10orf140	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	CCTCCT	CCTCCT	rs138084841	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:21805466_21805467insCCTCCT	uc009xkd.3	-	3	3538_3539	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Ins_p.428_429insEE	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	347						nucleus	nucleotide binding	p.E428_G429insEE(3)		kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						CCCGCTGCccccctcctcctcc	0.619													---	6	---	---	4	---					
CHD4	1108	broad.mit.edu	37	12	6710107	6710108	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6710107_6710108insT	uc001qpo.3	-	6	1075_1076	c.911_912insA	c.(910-912)aagfs	p.K304fs	CHD4_uc001qpn.3_Frame_Shift_Ins_p.K297fs|CHD4_uc001qpp.3_Frame_Shift_Ins_p.K301fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	304					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCTCTTACGCTTGGAACCAAA	0.520													---	130	---	---	92	---					
NEUROD4	58158	broad.mit.edu	37	12	55420256	55420256	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55420256delG	uc001sgp.4	+	1	411	c.33delG	c.(31-33)atgfs	p.M11fs	NEUROD4_uc021qyr.1_Frame_Shift_Del_p.M11fs	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	11					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCAAGGAGATGGGAGAGCTAG	0.418													---	40	---	---	31	---					
LRRK1	79705	broad.mit.edu	37	15	101595186	101595187	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:101595186_101595187insA	uc002bwr.3	+	26	4409_4410	c.4090_4091insA	c.(4090-4092)caafs	p.Q1364fs	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1364	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATGCTCACCCAAAAAATAGCC	0.411													---	84	---	---	29	---					
C19orf26	255057	broad.mit.edu	37	19	1231251	1231251	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:1231251delG	uc002lrm.2	-	8	1260	c.985delC	c.(985-987)cagfs	p.Q329fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	355						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTGCCGCTGGAAGTGGTGC	0.677										HNSCC(14;0.022)			---	32	---	---	30	---					
SLC1A5	6510	broad.mit.edu	37	19	47290702	47290702	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:47290702delT	uc002pfs.3	-	0	1141	c.521delA	c.(520-522)aatfs	p.N174fs	SLC1A5_uc010xyh.2_5'Flank|SLC1A5_uc002pfq.3_5'Flank|SLC1A5_uc002pfr.3_5'Flank	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	174					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GCTGGGGGCATTTTCGGCACT	0.701													---	4	---	---	2	---					
C20orf112	140688	broad.mit.edu	37	20	31041120	31041120	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31041120delT	uc002wxu.4	-	4	909	c.752delA	c.(751-753)aacfs	p.N251fs		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	251										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTCCATGCCGTTCTTCTTCAT	0.647													---	29	---	---	22	---					
SAMSN1	64092	broad.mit.edu	37	21	15918538	15918539	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:15918538_15918539insT	uc002yju.1	-	0	126_127	c.44_45insA	c.(43-45)catfs	p.H15fs	SAMSN1_uc010gky.1_Frame_Shift_Ins_p.H15fs|SAMSN1_uc002yjv.1_Intron	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	15					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTGGTTTTTGATGTTTCTCCTT	0.322													---	38	---	---	26	---					
KCNJ6	3763	broad.mit.edu	37	21	39086751	39086752	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:39086751_39086752insA	uc011aej.1	-	2	761_762	c.708_709insT	c.(706-711)tccatcfs	p.S236fs	KCNJ6_uc002ywo.2_Frame_Shift_Ins_p.S236fs	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	236					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TTGGCTCTGATGGAAGCCTCCA	0.530													---	58	---	---	44	---					
TOB2	10766	broad.mit.edu	37	22	41832492	41832492	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:41832492delA	uc003azz.1	-	1	1565	c.858delT	c.(856-858)tttfs	p.F286fs	TOB2_uc021wqf.1_Frame_Shift_Del_p.F286fs	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	286				QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971).	female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CACTGCCTCCAAACGGGCCTG	0.607													---	1	---	---	24	---					
