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
ECT2L	345930	broad.mit.edu	37	6	139167687	139167687	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:139167687C>T	uc003qif.2	+	7	1101	c.776C>T	c.(775-777)tCt>tTt	p.S259F	ECT2L_uc021zfx.1_Missense_Mutation_p.S259F|ECT2L_uc011edq.1_Missense_Mutation_p.S190F	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	259					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.I258T(1)		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						AGCAATATTTCTGGAAGCCAT	0.368000			"""N, Splice, Mis"""		ETP ALL									26			10		0	0	0.335167	0	0
MPO	4353	broad.mit.edu	37	17	56352921	56352921	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:56352921G>A	uc002ivu.1	-	7	1524	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	449					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGGCCCCCACGATCTTCCGGG	0.602000														36			17		0	0	0.575678	0	0
PAM	5066	broad.mit.edu	37	5	102203051	102203051	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:102203051C>T	uc003knt.3	+	1	537	c.164C>T	c.(163-165)tCa>tTa	p.S55L	PAM_uc003knw.3_Missense_Mutation_p.S55L|PAM_uc003kns.3_Missense_Mutation_p.S55L|PAM_uc003knu.3_Missense_Mutation_p.S55L|PAM_uc011cuz.2_5'UTR|PAM_uc003knv.3_Missense_Mutation_p.S55L	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	55	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ATTGATTCATCAGATTTTGCA	0.363000														17			26		0	0	0.729181	0	0
ITGA6	3655	broad.mit.edu	37	2	173349578	173349578	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:173349578C>T	uc002uhp.1	+	11	1821	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	ITGA6_uc010zdy.1_Nonsense_Mutation_p.R421*|ITGA6_uc002uho.1_Nonsense_Mutation_p.R540*|ITGA6_uc010fqm.1_Nonsense_Mutation_p.R186*	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	579					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.R540Q(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGTTCAGTTTCGAAACCAAGG	0.408000														63			13		0	0	0.457914	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497661	1497661	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:1497661G>A	uc003wpl.3	+	1	899	c.802G>A	c.(802-804)Gac>Aac	p.D268N	DLGAP2_uc003wpm.3_Missense_Mutation_p.D268N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	347					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)		GAGCAACAACGACGTCAAGTG	0.667000														34			24		0	0	0.654019	0	0
TMEM38A	79041	broad.mit.edu	37	19	16791364	16791364	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:16791364C>T	uc002nes.3	+	2	529	c.438C>T	c.(436-438)ttC>ttT	p.F146F		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	146						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACGGGTGGTTCGTCATGATTG	0.522000														28			33		0	0	0.788014	0	0
TRIM26	7726	broad.mit.edu	37	6	30164359	30164359	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:30164359G>A	uc003npr.3	-	4	908	c.699C>T	c.(697-699)gcC>gcT	p.A233A	TRIM26_uc003nps.3_Silent_p.A233A|TRIM26_uc003npt.3_Silent_p.A233A|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	233							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GGGCCAGCCGGGCAAGCTCCC	0.687000														47			32		0	0	0.804634	0	0
APCDD1	147495	broad.mit.edu	37	18	10471849	10471849	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:10471849C>T	uc002kom.4	+	2	919	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	189					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGCCTATGACCTCTGGCGAGA	0.622000														76			38		0	0	0.859065	0	0
SRCAP	10847	broad.mit.edu	37	16	30748990	30748990	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:30748990C>T	uc002dze.1	+	33	8014	c.7629C>T	c.(7627-7629)ctC>ctT	p.L2543L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.L2338L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2543	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)			TCACTAATCTCCCCTTGGGCT	0.572000														81			8		0	0	0.335167	0	0
PON1	5444	broad.mit.edu	37	7	94944801	94944801	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:94944801C>T	uc003uns.3	-	4	299	c.202_splice	c.e4-1	p.G68_splice	PON1_uc011kih.2_Splice_Site_p.G68_splice	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	68					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ATACTTTAATCCCTTATAAAC	0.428000														34			21		0	0	0.624587	0	0
FMNL2	114793	broad.mit.edu	37	2	153475450	153475450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:153475450G>A	uc002tye.3	+	13	1772	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	469	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GTCTACCCTGGAAAAAAAGAT	0.378000														25			23		0	0	0.639603	0	0
OR10J1	26476	broad.mit.edu	37	1	159409937	159409937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:159409937G>A	uc010piv.2	+	0	426	c.389G>A	c.(388-390)gGa>gAa	p.G130E	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	130					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)					ACAGCAATGGGATATGACCGC	0.502000														23			69		0	0	0.870114	0	0
ZNF829	374899	broad.mit.edu	37	19	37399336	37399336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:37399336G>A	uc021utr.1	-	3	432	c.365C>T	c.(364-366)tCc>tTc	p.S122F	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Missense_Mutation_p.S41F|ZNF829_uc002ofb.3_Missense_Mutation_p.S41F	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGTCTATGGAAACATCCCT	0.438000														22			31		0	0	0.804634	0	0
FUT2	2524	broad.mit.edu	37	19	49206638	49206638	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:49206638G>A	uc002pke.4	+	1	536	c.425G>A	c.(424-426)gGg>gAg	p.G142E	FUT2_uc010emc.3_Missense_Mutation_p.G142E|FUT2_uc021uwx.1_Missense_Mutation_p.G142E	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	142					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CACATCCCGGGGGAGTACGTC	0.647000														65			12		0	0	0.387290	0	0
ZNF281	23528	broad.mit.edu	37	1	200376691	200376691	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:200376691G>A	uc001gve.3	-	1	2250	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	ZNF281_uc001gvf.1_Missense_Mutation_p.P715S|ZNF281_uc001gvg.1_Missense_Mutation_p.P679S|ZNF281_uc021phb.1_Missense_Mutation_p.P715S	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	715					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CACTCCAAAGGAGACGTAGTG	0.433000														11			62		0	0	0.870114	0	0
IER5L	389792	broad.mit.edu	37	9	131939648	131939648	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:131939648G>A	uc010myt.1	-	0	893	c.684C>T	c.(682-684)gcC>gcT	p.A228A		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	Homo sapiens immediate early response 5-like (IER5L), mRNA.	228	Ala-rich.												Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		aggaggcgggggccggggagg	0.771000														5			15		0	0	0.557998	0	0
HYDIN	54768	broad.mit.edu	37	16	70989293	70989293	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:70989293C>T	uc002ezr.3	-	39	6449	c.6298G>A	c.(6298-6300)Gaa>Aaa	p.E2100K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2101										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)				TCCTCTCCTTCCTTCACGGAC	0.572000														35			6		0	0	0.248553	0	0
BAZ2A	11176	broad.mit.edu	37	12	57007849	57007849	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:57007849G>A	uc001slq.1	-	3	1004	c.810C>T	c.(808-810)gtC>gtT	p.V270V	BAZ2A_uc001slp.1_Silent_p.V268V|BAZ2A_uc009zow.1_Silent_p.V238V	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	270					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGGGTCAGGGACCAGGACTG	0.488000														73			27		0	0	0.750413	0	0
GPR139	124274	broad.mit.edu	37	16	20043681	20043682	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:20043681_20043682CC>TT	uc002dgu.1	-	1	599_600	c.437_438GG>AA	c.(436-438)cgg>cAA	p.R146Q	GPR139_uc010vaw.1_Missense_Mutation_p.R53Q	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	146						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAATGACTTTCCGGGTGCGGGC	0.515000														43			94		0	0	0.115264	0	0
WWTR1	25937	broad.mit.edu	37	3	149290664	149290664	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:149290664G>A	uc003exf.3	-	2	895	c.555C>T	c.(553-555)tcC>tcT	p.S185S	WWTR1_uc003exe.3_Silent_p.S185S|WWTR1_uc021xfm.1_Silent_p.S185S|WWTR1_uc003exh.3_Silent_p.S185S	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	185					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GATTTGGCTGGGATACTGCCA	0.468000			T	CAMTA1	epitheliod hemangioendothelioma									40			35		0	0	0.796494	0	0
USH1C	10083	broad.mit.edu	37	11	17547943	17547943	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:17547943C>T	uc001mnf.3	-	7	734	c.625G>A	c.(625-627)Gag>Aag	p.E209K	USH1C_uc001mne.3_Missense_Mutation_p.E209K|USH1C_uc009yhb.3_Missense_Mutation_p.E209K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.E173K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	209					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACCTTCTTCTCCTTGTTTTCC	0.612000														7			11		0	0	0.435327	0	0
TRPM7	54822	broad.mit.edu	37	15	50899415	50899415	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:50899415G>A	uc001zyt.4	-	19	2973	c.2691C>T	c.(2689-2691)gcC>gcT	p.A897A	TRPM7_uc010bew.2_Silent_p.A897A|TRPM7_uc001zyu.3_Silent_p.A455A	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	897					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)		CTTTCTCAATGGCATAAGTAA	0.313000														27			19		0	0	0.667858	0	0
SLC9C1	285335	broad.mit.edu	37	3	111936300	111936300	+	Silent	SNP	C	T	T	rs139599943		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:111936300C>T	uc003dyu.3	-	14	2001	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Silent_p.E545E	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	593					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTGATGGGCCCTCTTTTTCCT	0.299000														30			17		0	0	0.639603	0	0
ZNF320	162967	broad.mit.edu	37	19	53384634	53384634	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:53384634C>G	uc002qag.3	-	3	936	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.E195Q|ZNF320_uc002qai.3_Missense_Mutation_p.E249Q	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	249					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)		TTGCCACACTCATTACACTTA	0.393000														48			42		0	0	0.870114	0	0
C6orf221	154288	broad.mit.edu	37	6	74072880	74072880	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:74072880C>T	uc003pgt.4	+	1	285	c.232C>T	c.(232-234)Cga>Tga	p.R78*		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	78	KH; atypical.									NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						TCACGTGAATCGATTGGACCC	0.572000														52			40		0	0	0.870114	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573554	140573554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:140573554G>A	uc003lix.3	+	0	1603	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	477	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGCCACAGACAGAGACTC	0.657000														84			28		0	0	0.779181	0	0
OPLAH	26873	broad.mit.edu	37	8	145112555	145112555	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:145112555G>A	uc003zar.3	-	9	1300	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	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.	406							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)	AAATGCAGGGGAAGGAGGCAG	0.642000														35			4		0	0	0.217242	0	0
FOXN1	8456	broad.mit.edu	37	17	26857782	26857782	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:26857782G>A	uc010crm.3	+	5	1044	c.846G>A	c.(844-846)atG>atA	p.M282I	FOXN1_uc002hbj.3_Missense_Mutation_p.M282I	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	282					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TCATCTTCATGGCCCTTAAGA	0.537000														29			11		0	0	0.479597	0	0
FMNL2	114793	broad.mit.edu	37	2	153435417	153435417	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:153435417G>A	uc002tye.3	+	7	1088	c.721G>A	c.(721-723)Gtc>Atc	p.V241I		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	241	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTTCAACATGGTCATGTCTCA	0.368000														13			11		0	0	0.435327	0	0
WNK1	65125	broad.mit.edu	37	12	994397	994397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:994397C>T	uc021qss.1	+	18	5850	c.5207C>T	c.(5206-5208)tCt>tTt	p.S1736F	WNK1_uc001qio.4_Missense_Mutation_p.S1476F|WNK1_uc021qst.1_Missense_Mutation_p.S1728F|WNK1_uc001qip.4_Missense_Mutation_p.S1229F|WNK1_uc001qir.4_Missense_Mutation_p.S649F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1476					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCTGTAGTATCTCAGCAGGCA	0.512000														44			24		0	0	0.693898	0	0
TSGA13	114960	broad.mit.edu	37	7	130364146	130364146	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:130364146C>T	uc003vqi.3	-	4	691	c.234G>A	c.(232-234)agG>agA	p.R78R	TSGA13_uc003vqj.3_Silent_p.R78R	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	78										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGGTGTTTTTCCTGTTTTGAG	0.448000														10			14		0	0	0.457914	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040965	147040965	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:147040965A>G	uc010jgo.1	-	1	321	c.173T>C	c.(172-174)aTt>aCt	p.I58T	JAKMIP2_uc003loq.1_Missense_Mutation_p.I58T|JAKMIP2_uc011dbx.1_Missense_Mutation_p.I16T|JAKMIP2_uc003lor.1_Missense_Mutation_p.I58T|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	58						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCACGAATCCTCTTCGC	0.502000														16			39		0	0	0.870114	0	0
OR51D1	390038	broad.mit.edu	37	11	4661869	4661869	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:4661869C>T	uc010qyk.2	+	0	925	c.849C>T	c.(847-849)ctC>ctT	p.L283L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S282S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACCTCCCTCCTCCATGTGG	0.532000														35			54		0	0	0.870114	0	0
LAMA1	284217	broad.mit.edu	37	18	6966156	6966156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:6966156G>A	uc002knm.3	-	48	7134	c.7040C>T	c.(7039-7041)tCa>tTa	p.S2347L	LAMA1_uc002knl.3_5'Flank|LAMA1_uc010wzj.2_Missense_Mutation_p.S1823L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2347	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2346C(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCCGTATGAACCCAGGTA	0.428000														18			11		0	0	0.500413	0	0
FAM135B	51059	broad.mit.edu	37	8	139165169	139165169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:139165169C>T	uc003yuy.3	-	12	1720	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	FAM135B_uc003yux.3_Missense_Mutation_p.E418K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E79K|FAM135B_uc003yvb.3_Missense_Mutation_p.E79K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	517										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)			GTCCAACATTCATCTTCAGGC	0.458000										HNSCC(54;0.14)				68			60		0	0	0.870114	0	0
PSG3	5671	broad.mit.edu	37	19	43242944	43242944	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:43242944G>A	uc002oue.3	-	1	494	c.362C>T	c.(361-363)aCc>aTc	p.T121I	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.	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				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)				GATGTGTAAGGTGTAGGATCC	0.483000														116			162		0	0	0.870114	0	0
GALNT13	114805	broad.mit.edu	37	2	155099270	155099270	+	Missense_Mutation	SNP	A	T	T	rs149581963	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:155099270A>T	uc002tyt.4	+	3	642	c.538A>T	c.(538-540)Att>Ttt	p.I180F	GALNT13_uc002tyr.4_Missense_Mutation_p.I180F|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.	180	Catalytic subdomain A.					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						AGTAAAAATTATTAGGATGGA	0.358000														12			17		0	0	0.608945	0	0
ARMC5	79798	broad.mit.edu	37	16	31477519	31477519	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:31477519C>T	uc010vfn.2	+	7	2526	c.2402C>T	c.(2401-2403)tCc>tTc	p.S801F	ARMC5_uc010vfo.2_Missense_Mutation_p.S738F|ARMC5_uc002ecc.3_Missense_Mutation_p.S706F|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Missense_Mutation_p.S514F	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	706	BTB.						binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACTCCCTTTCCTGCCTCCAA	0.647000														16			16		0	0	0.608945	0	0
PHKG1	5260	broad.mit.edu	37	7	56149604	56149604	+	Silent	SNP	C	T	T	rs145703798	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:56149604C>T	uc011kdb.1	-	8	1065	c.870G>A	c.(868-870)tcG>tcA	p.S290S	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Silent_p.S152S|PHKG1_uc003trz.1_Silent_p.S258S|PHKG1_uc011kdc.1_Silent_p.S249S|PHKG1_uc011kdd.1_Silent_p.S204S	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	258					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCACGGTGTCCGAGTAATCAT	0.652000														14			8		0	0	0.307466	0	0
KLHL24	54800	broad.mit.edu	37	3	183381296	183381296	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:183381296T>C	uc003flv.3	+	3	1266	c.971T>C	c.(970-972)gTt>gCt	p.V324A	KLHL24_uc003flw.3_Missense_Mutation_p.V324A|KLHL24_uc003flx.3_Missense_Mutation_p.V324A	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	324						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGTGAGCGAGTTGGAGGATTT	0.363000														93			73		0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179640313	179640313	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:179640313G>A	uc021vsy.1	-	27	6503	c.6278C>T	c.(6277-6279)tCt>tTt	p.S2093F	TTN_uc021vsz.1_Missense_Mutation_p.S2047F|TTN_uc021vta.1_Missense_Mutation_p.S2047F|TTN_uc021vtb.1_Missense_Mutation_p.S2047F|TTN_uc002unb.2_Missense_Mutation_p.S2093F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2093	Ig-like 10.						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)			GTGTGCATCAGATCCTTGGCC	0.463000														25			17		0	0	0.608945	0	0
PAX7	5081	broad.mit.edu	37	1	18961677	18961677	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:18961677G>A	uc001bay.3	+	2	992	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PAX7_uc001baz.3_Missense_Mutation_p.E132K|PAX7_uc010oct.2_Missense_Mutation_p.E132K	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	132	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GTTCAGCTGGGAGATCCGGGA	0.587000			T	FOXO1A	alveolar rhabdomyosarcoma									21			46		0	0	0.870114	0	0
OR14J1	442191	broad.mit.edu	37	6	29275264	29275264	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:29275264G>A	uc011dln.2	+	0	798	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S266*(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATTCCTCATCGACTGTGGACC	0.458000														69			62		0	0	0.870114	0	0
FIGNL2	401720	broad.mit.edu	37	12	52215926	52215926	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:52215926C>T	uc001rzc.3	-	1	444	c.272G>A	c.(271-273)gGc>gAc	p.G91D		NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN	Homo sapiens fidgetin-like 2 (FIGNL2), mRNA.	91							ATP binding|nucleoside-triphosphatase activity								BRCA - Breast invasive adenocarcinoma(357;0.135)		CCCTTTGGCGCCGTTGAGGAA	0.657000														4			4		0	0	0.184627	0	0
MUC16	94025	broad.mit.edu	37	19	9069660	9069660	+	Missense_Mutation	SNP	G	A	A	rs74872724	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9069660G>A	uc002mkp.3	-	2	17990	c.17786C>T	c.(17785-17787)tCc>tTc	p.S5929F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5931	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						AGGCACTGGGGAAGAAGGAGA	0.498000														14			21		0	0	0.667858	0	0
HTR1B	3351	broad.mit.edu	37	6	78172692	78172692	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:78172692G>A	uc003pil.1	-	0	429	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	143					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTCCAGGGCGATGACACAGA	0.617000														23			11		0	0	0.411799	0	0
RYR3	6263	broad.mit.edu	37	15	33954484	33954484	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:33954484G>A	uc001zhi.3	+	34	4823	c.4753G>A	c.(4753-4755)Gac>Aac	p.D1585N	RYR3_uc010bar.3_Missense_Mutation_p.D1585N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1585	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCCACGTGGACCTCTCCCA	0.612000														6			11		0	0	0.387290	0	0
CLCN4	1183	broad.mit.edu	37	X	10181783	10181783	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:10181783G>A	uc004csy.4	+	10	2069	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	CLCN4_uc011mid.2_Missense_Mutation_p.E453K	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	547						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGGGGTCTGGAGTACATCGT	0.527000														64			4		0	0	0.184627	0	0
ARL13A	392509	broad.mit.edu	37	X	100243250	100243250	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:100243250A>G	uc004ego.3	+	6	838	c.722A>G	c.(721-723)aAg>aGg	p.K241R	ARL13A_uc011mrf.2_Missense_Mutation_p.K241R|ARL13A_uc010nng.3_Missense_Mutation_p.K241R	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	241							GTP binding			endometrium(1)|ovary(1)	2						ATCGAAGCTAAGCCTCTAAAG	0.448000														7			4		0	0	0.184627	0	0
AGK	55750	broad.mit.edu	37	7	141349069	141349069	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:141349069G>A	uc003vwi.2	+	13	1153	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	328					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTAGAGCAAAGAAGATTTTCT	0.393000														31			14		0	0	0.539581	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														10			13		0	0	0.435327	0	0
SCN7A	6332	broad.mit.edu	37	2	167298251	167298251	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:167298251G>A	uc002udu.2	-	13	1942	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	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.	604					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						TTCCCAACTTGAAAATTCTTA	0.353000														16			20		0	0	0.624587	0	0
ELTD1	64123	broad.mit.edu	37	1	79403674	79403674	+	Splice_Site	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:79403674T>C	uc001diq.4	-	6	733	c.577_splice	c.e6-1	p.E193_splice		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	193					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)		TTTTACAAATTCCTATTGAAA	0.299000														4			12		0	0	0.457914	0	0
LYRM4	57128	broad.mit.edu	37	6	5216856	5216856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:5216856G>A	uc021ykw.1	-	1	408	c.202C>T	c.(202-204)Cga>Tga	p.R68*	LYRM4_uc003mwp.3_Nonsense_Mutation_p.R68*|LYRM4_uc003mwq.3_Intron|LYRM4_uc010jnu.3_Nonsense_Mutation_p.R68*|AK094934_uc003mwn.1_Intron	NM_001164840	NP_001158312	Q9HD34	LYRM4_HUMAN	Homo sapiens LYR motif containing 4 (LYRM4), transcript variant 2, mRNA.	68						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CTTACCTGTCGACGAATTACT	0.383000														90			18		0	0	0.654019	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512182	47512182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	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														17			35		0	0	0.859065	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450224	105450224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:105450224G>A	uc022cca.1	+	0	799	c.799G>A	c.(799-801)Gct>Act	p.A267T	MUM1L1_uc004emg.2_Missense_Mutation_p.A267T|MUM1L1_uc004emf.2_Missense_Mutation_p.A267T	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	267								p.L266M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGAGACCCTGGCTGTTCCCTC	0.463000														5			10		0	0	0.435327	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891357	4891357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:4891357G>A	uc002mbm.3	-	2	730	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	244					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CTGTCCAGCCGAGACCGCCGC	0.592000														16			9		0	0	0.361761	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969393	140969393	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:140969393C>T	uc011mwp.2	+	3	720	c.720C>T	c.(718-720)tcC>tcT	p.S240S		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	240	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCATTTCCCTGACAGAAG	0.478000														16			25		0	0	0.706142	0	0
ELN	2006	broad.mit.edu	37	7	73481102	73481102	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:73481102C>T	uc003tzw.3	+	31	2236	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	ELN_uc003tzn.3_Silent_p.F709F|ELN_uc003tzy.3_Silent_p.F685F|ELN_uc003tzz.3_Silent_p.F628F|ELN_uc003tzo.3_Silent_p.F643F|ELN_uc003tzp.3_Silent_p.F602F|ELN_uc003tzq.3_Silent_p.F555F|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.F690F|ELN_uc003tzt.3_Silent_p.F696F|ELN_uc003tzu.3_Silent_p.F677F|ELN_uc003tzv.3_Silent_p.F662F|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.F699F|ELN_uc011kff.2_Silent_p.F691F	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	771	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCCCATTTTCCCAGGTATGC	0.612000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							40			12		0	0	0.435327	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:52321203C>T	uc003xqu.4	-	16	3082	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	994					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACCGTGTTTCCCTCCCAGTG	0.637000														5			7		0	0	0.307466	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202424	138202424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:138202424G>A	uc003qhr.3	+	8	2407	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	TNFAIP3_uc003qhs.3_Missense_Mutation_p.E781K	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	781					B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.E781D(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTACTGCAACGAATGCTTTCA	0.592000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									84			39		0	0	0.870114	0	0
SGCZ	137868	broad.mit.edu	37	8	14412268	14412268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:14412268C>T	uc003wwq.3	-	1	867	c.207G>A	c.(205-207)tgG>tgA	p.W69*	SGCZ_uc010lss.3_Nonsense_Mutation_p.W56*	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	56					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)		CTTTCAATATCCATATTGTCA	0.353000														34			12		0	0	0.435327	0	0
FAM135B	51059	broad.mit.edu	37	8	139165196	139165196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:139165196G>A	uc003yuy.3	-	12	1693	c.1522C>T	c.(1522-1524)Caa>Taa	p.Q508*	FAM135B_uc003yux.3_Nonsense_Mutation_p.Q409*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.Q70*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.Q70*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	508								p.Q508*(3)		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)			GCTTTGTTTTGAAATTCACCA	0.438000										HNSCC(54;0.14)				81			32		0	0	0.812448	0	0
DNAH17	8632	broad.mit.edu	37	17	76503747	76503747	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:76503747C>T	uc010dhp.2	-	27	4502	c.4377G>A	c.(4375-4377)ctG>ctA	p.L1459L		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)			TGGACATCATCAGGTTCTGCA	0.607000														27			6		0	0	0.335167	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083070	76083070	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:76083070C>T	uc002jud.2	+	13	4298	c.3698C>T	c.(3697-3699)tCg>tTg	p.S1233L	TNRC6C_uc002juf.2_Missense_Mutation_p.S1230L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1233	Pro-rich.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGGCAAATCGGCCATGGAC	0.657000														37			12		0	0	0.457914	0	0
FBP2	8789	broad.mit.edu	37	9	97333797	97333797	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:97333797T>C	uc004auv.3	-	3	581	c.514A>G	c.(514-516)Acc>Gcc	p.T172A		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	172					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GCCACCAGGGTTGCACTACCG	0.572000														14			32		0	0	0.819951	0	0
DLGAP1	9229	broad.mit.edu	37	18	3581882	3581882	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:3581882G>A	uc002kmf.3	-	7	2483	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	DLGAP1_uc010wyz.2_Silent_p.I652I|DLGAP1_uc010dkn.3_Silent_p.I360I|DLGAP1_uc002kme.2_Silent_p.I350I|DLGAP1_uc010wyw.2_Silent_p.I358I|DLGAP1_uc010wyx.2_Silent_p.I374I|DLGAP1_uc010wyy.2_Silent_p.I336I|DLGAP1_uc002kmg.3_Silent_p.I350I	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	652	Interaction with DYL2 (By similarity).				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTGTATCCCGATAGACAGGC	0.458000														43			24		0	0	0.740014	0	0
MYCBP2	23077	broad.mit.edu	37	13	77718653	77718653	+	Silent	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:77718653A>G	uc021rks.1	-	48	7497	c.7230T>C	c.(7228-7230)acT>acC	p.T2410T	MYCBP2_uc010aev.3_Silent_p.T1776T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2372					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)		TTGCACAATAAGTCCCATCAT	0.378000														146			6		0	0	0.307466	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656416	34656416	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:34656416G>A	uc001zig.3	-	3	664	c.570C>T	c.(568-570)acC>acT	p.T190T	LPCAT4_uc010bav.1_Silent_p.T190T	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	190					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGCCTCCTGAGGTGGCCCGCC	0.592000														107			81		0	0	0.870114	0	0
ADD1	118	broad.mit.edu	37	4	2927835	2927835	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:2927835G>A	uc003gfq.3	+	13	2138	c.1950G>A	c.(1948-1950)gaG>gaA	p.E650E	ADD1_uc003gfo.3_Silent_p.E650E|ADD1_uc003gfp.3_Silent_p.E619E|ADD1_uc003gfr.3_Silent_p.E619E|ADD1_uc003gfs.3_Silent_p.E650E	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	619					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAAGCTGGAGGAAGGTGAGC	0.632000														5			26		0	0	0.760397	0	0
KSR1	8844	broad.mit.edu	37	17	25936329	25936329	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:25936329G>A	uc010crg.3	+	16	2296	c.1851G>A	c.(1849-1851)ggG>ggA	p.G617G	KSR1_uc002gzm.3_Silent_p.G397G|KSR1_uc002gzn.3_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	753	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCTGTTTGGGATCTCAGGCG	0.537000														96			87		0	0	0.870114	0	0
OR2F2	135948	broad.mit.edu	37	7	143632997	143632997	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:143632997C>T	uc011ktv.2	+	0	672	c.672C>T	c.(670-672)acC>acT	p.T224T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCATCTCCACCATCCTAAAGA	0.507000														49			25		0	0	0.760397	0	0
CDH8	1006	broad.mit.edu	37	16	61687817	61687817	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:61687817C>T	uc002eog.2	-	11	3050	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	699					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D699Y(2)		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)		GGTTTAATATCCTTACGGGGT	0.428000														22			42		0	0	0.853193	0	0
THSD4	79875	broad.mit.edu	37	15	71447238	71447238	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:71447238C>T	uc002atb.1	+	1	145	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	22						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATTCCAGTTCGTCTGCCCAC	0.552000														54			49		0	0	0.870114	0	0
OR10T2	128360	broad.mit.edu	37	1	158368942	158368942	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:158368942G>A	uc010pih.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAAGCCAAGGAAAAAGAACA	0.498000														13			38		0	0	0.827153	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526897	86526897	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:86526897C>T	uc011kha.2	-	18	2795	c.2610G>A	c.(2608-2610)gaG>gaA	p.E870E	KIAA1324L_uc003uie.3_Silent_p.E703E|KIAA1324L_uc011kgz.2_Silent_p.E756E|KIAA1324L_uc003uif.2_Silent_p.E622E	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	870						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTTCAGCACTCTCCCACAGGA	0.463000														27			20		0	0	0.608945	0	0
ABCA6	23460	broad.mit.edu	37	17	67129868	67129868	+	Silent	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:67129868T>C	uc002jhw.1	-	5	880	c.705A>G	c.(703-705)gtA>gtG	p.V235V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	235					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATATAAAATATACAAGTGGGG	0.303000														20			10		0	0	0.361761	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829832	26829832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:26829832G>A	uc003acg.2	+	1	648	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	84					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCAGCCCCGGCCCTACGTC	0.642000														61			36		0	0	0.870114	0	0
RFX6	222546	broad.mit.edu	37	6	117243285	117243285	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:117243285G>A	uc003pxm.3	+	12	1471	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	470					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						TGAATGGTTGGATACTGTGGT	0.343000														32			17		0	0	0.624587	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837292	12837292	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:12837292C>T	uc001aui.3	+	2	1029	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	334								p.H333Y(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCATTTCAGTCCTGAGC	0.572000														8			52		0	0	0.870114	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727441	66727441	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:66727441T>A	uc010bhq.3	+	1	632	c.157T>A	c.(157-159)Ttt>Att	p.F53I	MAP2K1_uc010ujp.2_Missense_Mutation_p.F31I	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	53			F -> S (in CFC syndrome).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F53L(2)|p.F53S(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CCTTGAGGCCTTTCTTACCCA	0.547000														94			40		0	0	0.847076	0	0
SUGP2	10147	broad.mit.edu	37	19	19120956	19120956	+	Silent	SNP	G	A	A	rs139001412		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:19120956G>A	uc002nkz.1	-	4	2108	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	SUGP2_uc002nkx.2_Silent_p.L682L|SUGP2_uc002nla.1_Silent_p.L682L|SUGP2_uc002nlb.2_Silent_p.L682L|SUGP2_uc010xqk.1_Silent_p.L451L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	682					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGCACGGAGGAGCCCCCGCC	0.662000														54			10		0	0	0.361761	0	0
ARSF	416	broad.mit.edu	37	X	3030310	3030310	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:3030310G>A	uc022brz.1	+	10	1622	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	ARSF_uc004cre.2_Missense_Mutation_p.E496K|ARSF_uc004crf.2_Missense_Mutation_p.E496K	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	496						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGTTTCGGAGAACAGGTTAC	0.557000														32			23		0	0	0.717897	0	0
SMOC2	64094	broad.mit.edu	37	6	168927078	168927078	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:168927078G>A	uc003qwr.2	+	2	529	c.309G>A	c.(307-309)aaG>aaA	p.K103K	SMOC2_uc003qws.2_Silent_p.K103K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	103	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AAGCCCGGAAGGAGTTTCAGC	0.542000														36			20		0	0	0.693898	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368801	86368801	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:86368801G>A	uc001vll.1	-	1	2302	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	SLITRK6_uc021rla.1_Silent_p.L615L	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	615						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AACATAATCAGAAGTCCCAAT	0.413000														23			44		0	0	0.870114	0	0
CUL5	8065	broad.mit.edu	37	11	107920793	107920793	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:107920793G>A	uc001pjv.3	+	4	1078	c.411_splice	c.e4+1	p.K137_splice	CUL5_uc001pju.3_Splice_Site	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	137					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TTGTTCGAAAGGTAAGACTAT	0.313000														8			25		0	0	0.779181	0	0
OR10G4	390264	broad.mit.edu	37	11	123886941	123886941	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:123886941C>T	uc010sac.2	+	0	660	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I220I(4)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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)		ATGTGTCCATCGTCTGTTCCA	0.542000														14			48		0	0	0.870114	0	0
CD177	57126	broad.mit.edu	37	19	43859894	43859894	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:43859894G>A	uc002owi.3	+	3	503	c.461G>A	c.(460-462)gGg>gAg	p.G154E	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	154	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGCCCCAAGGGGACCACACAC	0.577000														17			17		0	0	0.575678	0	0
CD93	22918	broad.mit.edu	37	20	23065072	23065072	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:23065072G>A	uc002wsv.3	-	0	1906	c.1758C>T	c.(1756-1758)atC>atT	p.I586I		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	586					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGTGCCTAGGATGTAGAATA	0.597000														43			48		0	0	0.870114	0	0
MYOM2	9172	broad.mit.edu	37	8	2037890	2037890	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:2037890G>A	uc003wpx.4	+	14	1842	c.1704G>A	c.(1702-1704)ccG>ccA	p.P568P	MYOM2_uc011kwi.2_5'UTR	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	568	Fibronectin type-III 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)		TGAGATCCCCGAGATATGCCG	0.562000														18			37		0	0	0.804634	0	0
CDRT1	374286	broad.mit.edu	37	17	15519013	15519013	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:15519013G>A	uc002gor.1	-	7	1883	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	CDRT1_uc002gov.4_Missense_Mutation_p.P206S			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	206										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTGGACAAAGGAAGGGATGTG	0.488000														13			14		0	0	0.654019	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432817	40432817	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:40432817C>T	uc001cev.3	+	8	1207	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	MFSD2A_uc010ojb.1_Silent_p.F290F|MFSD2A_uc001ceu.3_Silent_p.F329F|MFSD2A_uc010ojc.2_Silent_p.F173F|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	342					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCAATGAATTCCAGAATCTAC	0.547000														17			37		0	0	0.870114	0	0
HECW2	57520	broad.mit.edu	37	2	197194325	197194325	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:197194325C>T	uc002utm.1	-	4	728	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	182	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AACAAGTTTTCGAGAATGCAG	0.408000														61			41		0	0	0.870114	0	0
DENND3	22898	broad.mit.edu	37	8	142166030	142166030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:142166030C>T	uc003yvy.3	+	7	1195	c.917C>T	c.(916-918)cCt>cTt	p.P306L	DENND3_uc010mep.3_Missense_Mutation_p.P319L|DENND3_uc003yvz.1_5'Flank	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	306										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGACATTCCTGATGTCCCC	0.448000														51			42		0	0	0.870114	0	0
ZNF80	7634	broad.mit.edu	37	3	113955903	113955903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:113955903C>T	uc010hqo.3	-	0	523	c.19G>A	c.(19-21)Ggg>Agg	p.G7R	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	7						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D6N(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTCCCCAACCCATCGCGTTTA	0.527000														86			37		0	0	0.870114	0	0
CLDN6	9074	broad.mit.edu	37	16	3065827	3065827	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:3065827C>T	uc021tbb.1	-	0	196	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	CLDN6_uc002csu.4_Missense_Mutation_p.V66M	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	66					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGTCGTACACCTTGCACTGC	0.637000														16			46		0	0	0.870114	0	0
SVEP1	79987	broad.mit.edu	37	9	113170022	113170022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:113170022C>T	uc010mtz.3	-	37	8195	c.7858G>A	c.(7858-7860)Gat>Aat	p.D2620N	SVEP1_uc010mty.3_Missense_Mutation_p.D546N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2620					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCAAAATCTATATGAGGA	0.463000														30			85		0	0	0.870114	0	0
PTX4	390667	broad.mit.edu	37	16	1536507	1536507	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:1536507G>A	uc010uvf.2	-	2	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	290	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGCAGTGACGAAACCAGGGC	0.642000														8			21		0	0	0.639603	0	0
GCA	25801	broad.mit.edu	37	2	163204218	163204218	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:163204218C>T	uc002ucg.3	+	1	334	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	53	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						GCTGGTGACTCCGTGTATACT	0.423000														37			24		0	0	0.717897	0	0
FNDC1	84624	broad.mit.edu	37	6	159687132	159687132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:159687132G>A	uc010kjv.3	+	20	5501	c.5301G>A	c.(5299-5301)tgG>tgA	p.W1767*		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1767						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCTATCTGGATCCCATTCG	0.493000														15			9		0	0	0.335167	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710711	103710711	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:103710711G>A	uc001vpy.4	-	1	996	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	133					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)					CAAGCAGTGTGGAGCATGTGG	0.443000														9			19		0	0	0.624587	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453598	110453598	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:110453598G>A	uc003yne.3	+	33	4298	c.4194G>A	c.(4192-4194)ggG>ggA	p.G1398G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1398	IPT/TIG 7.				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)			CCAACAATGGGAAAGATTCAG	0.289000										HNSCC(38;0.096)				5			5		0	0	0.248553	0	0
GRHL2	79977	broad.mit.edu	37	8	102505011	102505011	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:102505011C>T	uc010mbu.3	+	0	344	c.14C>T	c.(13-15)tCg>tTg	p.S5L	GRHL2_uc010mbt.1_Missense_Mutation_p.S5L|GRHL2_uc011lhi.1_Missense_Mutation_p.S5L	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	5	Transcription activation.					cytoplasm|nucleus	DNA binding	p.S5P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCACAAGAGTCGGACAAGTAA	0.473000														54			22		0	0	0.693898	0	0
CDH13	1012	broad.mit.edu	37	16	83636115	83636115	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:83636115G>A	uc010vns.2	+	8	1422	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	CDH13_uc002fgx.3_Silent_p.L339L|CDH13_uc010vnt.2_Silent_p.L85L|CDH13_uc010vnu.2_Silent_p.L300L	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	339	Cadherin 3.				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)		TGGCTGGACTGGATGTTGGAT	0.423000														183			11		0	0	0.435327	0	0
NEFH	4744	broad.mit.edu	37	22	29885739	29885739	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:29885739T>A	uc003afo.3	+	3	2181	c.2110T>A	c.(2110-2112)Tcc>Acc	p.S704T	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	710	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGCAAAGTCCCCTGAGAA	0.557000														100			5		0	0	0.184627	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569051	11569051	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:11569051C>T	uc002mry.1	-	4	918	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ELAVL3_uc002mrx.1_Missense_Mutation_p.E180K	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	180	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATAGCCTCTTCGGCCTCAATC	0.597000														48			6		0	0	0.307466	0	0
SLFN13	146857	broad.mit.edu	37	17	33771893	33771893	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:33771893C>T	uc002hjk.1	-	0	1137	c.807G>A	c.(805-807)ttG>ttA	p.L269L	SLFN13_uc010wch.1_Silent_p.L269L|SLFN13_uc002hjl.2_Silent_p.L269L|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	269						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTACATTTTTCAAAGAGTCAG	0.403000														53			65		0	0	0.870114	0	0
COL22A1	169044	broad.mit.edu	37	8	139824127	139824127	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:139824127G>A	uc003yvd.3	-	8	1811	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	455	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGGGTGGGGGTGGAGGTGG	0.597000										HNSCC(7;0.00092)				2			11		0	0	0.435327	0	0
SUGP2	10147	broad.mit.edu	37	19	19120938	19120938	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:19120938G>A	uc002nkz.1	-	4	2126	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	SUGP2_uc002nkx.2_Silent_p.L688L|SUGP2_uc002nla.1_Silent_p.L688L|SUGP2_uc002nlb.2_Silent_p.L688L|SUGP2_uc010xqk.1_Silent_p.L457L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	688					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCCAGCCCCGGAGCCCTTGAG	0.667000														27			36		0	0	0.847076	0	0
QRICH1	54870	broad.mit.edu	37	3	49069662	49069662	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:49069662G>A	uc010hkq.3	-	9	2388	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S	IMPDH2_uc003cvt.3_5'Flank|IMPDH2_uc010hkp.1_5'Flank|QRICH1_uc003cvu.3_Missense_Mutation_p.P698S|QRICH1_uc003cvv.3_Missense_Mutation_p.P698S	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	698								p.P698P(1)		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)		CATCTCAATGGATTCTCTGGA	0.458000														35			32		0	0	0.847076	0	0
IL1RN	3557	broad.mit.edu	37	2	113887221	113887221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:113887221G>A	uc002tjb.3	+	1	249	c.185G>A	c.(184-186)gGa>gAa	p.G62E	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.G65E|IL1RN_uc002tiy.3_Missense_Mutation_p.G28E|IL1RN_uc002tja.3_Missense_Mutation_p.G44E	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	62					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	p.K62N(1)		breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TACTTGCAAGGACCAAATGTC	0.483000									Lichen Sclerosis et Atrophicus, Familial Clustering of					64			15		0	0	0.575678	0	0
STAT5B	6777	broad.mit.edu	37	17	40375412	40375412	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:40375412G>A	uc002hzh.3	-	4	707	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	STAT5B_uc002hzi.3_Silent_p.L180L	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	180					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGATCCTCAGGCTCTCCTGG	0.552000														25			6		0	0	0.248553	0	0
STXBP4	252983	broad.mit.edu	37	17	53237185	53237185	+	Silent	SNP	C	T	T	rs115962086	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:53237185C>T	uc002iuf.1	+	17	1782	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	STXBP4_uc010dcd.1_Silent_p.I503I	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	525	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CATCCTGGATCCATCCCGTGA	0.433000														49			16		0	0	0.608945	0	0
TTC13	79573	broad.mit.edu	37	1	231044697	231044697	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:231044697G>A	uc001huf.4	-	20	2421	c.2379C>T	c.(2377-2379)ccC>ccT	p.P793P	TTC13_uc001hug.4_Silent_p.P739P|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Silent_p.P682P	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	793							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCTTCCCTTTGGGAATTTTTC	0.383000														25			125		0	0	0.870114	0	0
BAZ2A	11176	broad.mit.edu	37	12	57011238	57011238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:57011238G>A	uc001slq.1	-	1	277	c.83C>T	c.(82-84)tCc>tTc	p.S28F	BAZ2A_uc001slp.1_Missense_Mutation_p.S26F|BAZ2A_uc010sqr.1_Missense_Mutation_p.S28F|BAZ2A_uc009zow.1_Missense_Mutation_p.S26F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	28					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCCCCTGAGGAAGGAGAGGG	0.577000														9			7		0	0	0.248553	0	0
FER1L6	654463	broad.mit.edu	37	8	125076659	125076659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:125076659C>T	uc003yqw.3	+	25	3606	c.3400C>T	c.(3400-3402)Cac>Tac	p.H1134Y	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1134						integral to membrane		p.D1133N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCAGCAGATCACATTTATGT	0.572000														77			57		0	0	0.870114	0	0
GLG1	2734	broad.mit.edu	37	16	74530429	74530429	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:74530429G>A	uc002fcx.3	-	4	938	c.888C>T	c.(886-888)ctC>ctT	p.L296L	GLG1_uc002fcw.4_Silent_p.L285L|GLG1_uc002fcy.4_Silent_p.L296L|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	296						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGCCACCCGGAGAATGGCTT	0.463000														27			36		0	0	0.788014	0	0
DNAH8	1769	broad.mit.edu	37	6	38997949	38997949	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:38997949G>T	uc021yzh.1	+	92	14014	c.13905G>T	c.(13903-13905)atG>atT	p.M4635I	DNAH8_uc003ooe.2_Missense_Mutation_p.M4418I	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						GGAAGCTCATGGAATCCACCC	0.502000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			17		4.96729e-08	5.00036e-08	0.575678	1	0
KERA	11081	broad.mit.edu	37	12	91449844	91449844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:91449844C>T	uc001tbl.3	-	1	834	c.215G>A	c.(214-216)aGa>aAa	p.R72K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	72					response to stimulus|visual perception	proteinaceous extracellular matrix		p.R72I(2)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATACCAAATTCTTGAAGGAAT	0.383000														29			11		0	0	0.411799	0	0
FCN2	2220	broad.mit.edu	37	9	137778323	137778323	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:137778323C>T	uc004cfg.1	+	6	617	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	FCN2_uc004cfh.1_Nonsense_Mutation_p.Q165*	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	203	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)		GGACAACTACCAGTTTGCTAA	0.547000														24			55		0	0	0.870114	0	0
MPP2	4355	broad.mit.edu	37	17	41958903	41958903	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:41958903A>C	uc010win.1	-	5	922	c.319T>G	c.(319-321)Tgc>Ggc	p.C107G	MPP2_uc002ien.1_Missense_Mutation_p.C263G|MPP2_uc010wim.1_Missense_Mutation_p.C235G|MPP2_uc002ieo.1_Missense_Mutation_p.C246G|MPP2_uc010wio.1_Missense_Mutation_p.C235G|MPP2_uc010wip.1_Missense_Mutation_p.C291G			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	270	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GCTTCCTTGCAGGGGATGAGG	0.597000														44			16		0	0	0.539581	0	0
SLC9A6	10479	broad.mit.edu	37	X	135092658	135092658	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:135092658G>A	uc004ezk.3	+	6	1033	c.957G>A	c.(955-957)gcG>gcA	p.A319A	SLC9A6_uc011mvx.2_Silent_p.A267A|SLC9A6_uc004ezj.3_Silent_p.A287A	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	287					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ATGTCACAGCGATGTTCAAGT	0.428000														69			8		0	0	0.307466	0	0
FAM113B	91523	broad.mit.edu	37	12	47629014	47629014	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:47629014C>T	uc001rpq.3	+	1	693	c.168C>T	c.(166-168)ttC>ttT	p.F56F	FAM113B_uc001rpn.3_Silent_p.F56F|FAM113B_uc021qxi.1_Silent_p.F56F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	56							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)					AGCTGAACTTCGAACAAGATG	0.602000														26			13		0	0	0.435327	0	0
SMARCA2	6595	broad.mit.edu	37	9	2181573	2181573	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:2181573C>T	uc003zhc.3	+	29	4355	c.4256C>T	c.(4255-4257)tCa>tTa	p.S1419L	SMARCA2_uc003zhd.3_Missense_Mutation_p.S1401L|SMARCA2_uc010mha.3_Missense_Mutation_p.S1334L|SMARCA2_uc011llw.2_Missense_Mutation_p.S105L|SMARCA2_uc011llx.2_Missense_Mutation_p.S65L|SMARCA2_uc003zhe.3_Missense_Mutation_p.S107L|SMARCA2_uc010mhb.3_Missense_Mutation_p.S89L	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.	1419	Bromo.				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)		TCCTACAGTTCAGGGCGACAG	0.333000														9			20		0	0	0.624587	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144061036	144061036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:144061036C>T	uc003wel.3	+	1	1392	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	ARHGEF5_uc003wek.3_Missense_Mutation_p.A425V	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	425					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTTCCAGGTGCCTCATATCTC	0.582000														27			21		0	0	0.624587	0	0
MYO1H	283446	broad.mit.edu	37	12	109874332	109874332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:109874332G>A	uc010sxn.1	+	20	2132	c.2132G>A	c.(2131-2133)aGg>aAg	p.R711K		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGCCTAGGAAGGAGAGAATAC	0.408000														9			5		0	0	0.248553	0	0
GAB3	139716	broad.mit.edu	37	X	153925421	153925421	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:153925421G>A	uc004fmk.1	-	6	1461	c.1413C>T	c.(1411-1413)acC>acT	p.T471T	GAB3_uc004fmj.1_Silent_p.T470T|GAB3_uc010nve.1_Silent_p.T471T|GAB3_uc004fml.1_Silent_p.T90T	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	470										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCACAGTGCGGGTCCTGGTAA	0.522000														45			7		0	0	0.335167	0	0
CD177	57126	broad.mit.edu	37	19	43866411	43866411	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:43866411G>A	uc002owi.3	+	9	1292	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	418					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCTCTCACTTGGGGGGTGGGG	0.617000														5			8		0	0	0.335167	0	0
BC128131	0	broad.mit.edu	37	19	23159858	23159858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:23159858G>A	uc002nqz.1	-	1	115	c.89C>T	c.(88-90)tCt>tTt	p.S30F	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TTTTTGGAAAGAATCTTCTCT	0.323000														2			4		0	0	0.217242	0	0
ZNF718	255403	broad.mit.edu	37	4	86672	86672	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:86672C>T	uc003fzv.1	+	5	1380	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Silent_p.C194C|ZNF718_uc011but.1_Silent_p.C194C	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	425					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)		CCTACACGTGCGAAGAATGTG	0.388000														38			5		0	0	0.184627	0	0
TADA2B	93624	broad.mit.edu	37	4	7056214	7056214	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:7056214C>T	uc003gjw.4	+	1	847	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TADA2B_uc010idi.3_Silent_p.F157F|TADA2B_uc021xle.1_Silent_p.F140F	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						TGCCAGCCTTCCTGGGGAAGG	0.582000														17			41		0	0	0.859065	0	0
ESPL1	9700	broad.mit.edu	37	12	53683351	53683351	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:53683351C>T	uc001sck.2	+	21	5177	c.5086C>T	c.(5086-5088)Cag>Tag	p.Q1696*	ESPL1_uc001scj.2_Nonsense_Mutation_p.Q1371*	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1696					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGAGTTTCCAGGAGCGCCT	0.602000														22			17		0	0	0.654019	0	0
PAK7	57144	broad.mit.edu	37	20	9525015	9525015	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:9525015C>T	uc002wnl.2	-	9	2414	c.1869_splice	c.e9+1	p.E623_splice	PAK7_uc002wnk.2_Splice_Site_p.E623_splice|PAK7_uc002wnj.2_Splice_Site_p.E623_splice|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	623	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GACCCCCTTACCTCTGTCCCA	0.542000														79			82		0	0	0.870114	0	0
CTCFL	140690	broad.mit.edu	37	20	56083820	56083820	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:56083820G>A	uc010giw.1	-	8	1627	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	CTCFL_uc010gix.1_Missense_Mutation_p.R506C|CTCFL_uc002xym.2_Missense_Mutation_p.R506C|CTCFL_uc010gjb.1_Missense_Mutation_p.R506C|CTCFL_uc010gja.1_Missense_Mutation_p.R456C|CTCFL_uc010gjc.1_Missense_Mutation_p.R506C|CTCFL_uc010gjd.1_Missense_Mutation_p.R506C|CTCFL_uc010gje.3_Missense_Mutation_p.R506C|CTCFL_uc010gjg.3_Missense_Mutation_p.R238C|CTCFL_uc010gjf.3_Missense_Mutation_p.R301C|CTCFL_uc010gjh.2_Missense_Mutation_p.R362C|CTCFL_uc010gji.2_Missense_Mutation_p.R301C|CTCFL_uc010gjj.2_Missense_Mutation_p.R506C|CTCFL_uc010giu.3_5'Flank|CTCFL_uc010giv.3_5'Flank	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	506					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGTGGGTACGAATGTGAGCG	0.433000														31			23		0	0	0.750413	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764525	109764525	+	RNA	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:109764525G>A	uc004eos.1	+	0		c.986G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		CCCAGGAGGAGCCTGCAATTC	0.572000														12			3		0	0	0.184627	0	0
GHR	2690	broad.mit.edu	37	5	42719517	42719517	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:42719517C>T	uc021xxv.1	+	9	2066	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	GHR_uc003jmt.3_Silent_p.I636I|GHR_uc003jmu.3_Silent_p.I636I|GHR_uc003jmv.2_Silent_p.I636I|GHR_uc021xxw.1_Silent_p.I636I|GHR_uc021xxx.1_Silent_p.I636I|GHR_uc021xxy.1_Silent_p.I636I|GHR_uc021xxz.1_Silent_p.I636I|GHR_uc021xya.1_Silent_p.I636I|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.I449I|GHR_uc021xyd.1_Silent_p.I614I	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	636					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAACAAAATCATGCCTTAGC	0.433000														17			45		0	0	0.870114	0	0
AMY2A	279	broad.mit.edu	37	1	104163193	104163193	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:104163193G>A	uc001dut.3	+	4	829	c.765G>A	c.(763-765)gaG>gaA	p.E255E		NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	255					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	TGGGTGGTGAGCCAATTAAAA	0.353000														61			13		0	0	0.870114	0	0
GPATCH2	55105	broad.mit.edu	37	1	217665071	217665071	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:217665071G>A	uc001hlf.1	-	7	1324	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	GPATCH2_uc009xdq.1_Non-coding_Transcript	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	410						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTTTCAGCTCGATTATCTCTC	0.313000														23			50		0	0	0.870114	0	0
PPFIA4	8497	broad.mit.edu	37	1	203040888	203040888	+	Splice_Site	SNP	C	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:203040888C>G	uc009xaj.3	+	33	3768	c.3768_splice	c.e33+1	p.D1256_splice	PPFIA4_uc010pqf.2_Splice_Site_p.D838_splice|PPFIA4_uc001gyz.3_Splice_Site_p.D625_splice|PPFIA4_uc001gza.3_Splice_Site_p.D616_splice|PPFIA4_uc001gzb.1_Splice_Site_p.D311_splice|PPFIA4_uc001gzc.1_Splice_Site_p.D167_splice			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	625					cell communication	cell surface|cytoplasm	protein binding	p.D625D(1)|p.D1255D(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCTGGATGACGTGAGTACCT	0.522000														5			8		0	0	0.387290	0	0
DRD5	1816	broad.mit.edu	37	4	9784592	9784592	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:9784592C>T	uc003gmb.4	+	0	1335	c.939C>T	c.(937-939)ttC>ttT	p.F313F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	313					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)	TGCCCTTCTTCATCCTTAACT	0.597000														22			32		0	0	0.804634	0	0
KCNF1	3754	broad.mit.edu	37	2	11052970	11052970	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:11052970G>A	uc002rax.3	+	0	908	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	140						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)		GGAGCTGGAGGAGATCGCGCG	0.632000														27			19		0	0	0.654019	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451440	22451440	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:22451440C>T	uc003zpp.1	+	1	1270	c.1045C>T	c.(1045-1047)Cta>Tta	p.L349L		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	349					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		AGAAGGCATTCTACGGTTCTG	0.468000														14			29		0	0	0.819951	0	0
SEPT7P2	641977	broad.mit.edu	37	7	45791226	45791226	+	RNA	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:45791226C>T	uc003tnh.3	-	4		c.699G>A			SEPT7P2_uc003tnf.4_Non-coding_Transcript					Homo sapiens septin 7 pseudogene 2 (SEPT7P2), non-coding RNA.																		TTTGTAAACTCAATATCCAAT	0.343000														5			3		0	0	0.150653	0	0
VEGFC	7424	broad.mit.edu	37	4	177608435	177608435	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:177608435G>A	uc003ius.1	-	5	1481	c.1051C>T	c.(1051-1053)Caa>Taa	p.Q351*		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	351	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.Q351*(2)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTTAGGGGTTGATTTCTGGGG	0.428000														35			66		0	0	0.870114	0	0
ICAM2	3384	broad.mit.edu	37	17	62081230	62081230	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:62081230G>A	uc002jdu.4	-	2	655	c.423C>T	c.(421-423)ccC>ccT	p.P141P	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Silent_p.P141P|ICAM2_uc010ded.3_Silent_p.P141P|ICAM2_uc002jdx.4_Silent_p.P141P|ICAM2_uc002jdv.4_Silent_p.P141P	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	141	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGCTGTCCAGGGGCTCCACGG	0.612000														19			26		0	0	0.750413	0	0
ING1	3621	broad.mit.edu	37	13	111371712	111371712	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:111371712C>T	uc001vri.3	+	1	1134	c.702C>T	c.(700-702)atC>atT	p.I234I	ING1_uc001vrf.3_Silent_p.I47I|ING1_uc001vrg.3_Silent_p.I22I|ING1_uc001vrh.3_Silent_p.I91I|ING1_uc021rmo.1_Silent_p.I22I	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	234					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.E234K(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGATCCAGATCGTGAGCCAGA	0.672000														28			37		0	0	0.864702	0	0
GGA1	26088	broad.mit.edu	37	22	38021006	38021006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:38021006C>T	uc003atc.3	+	9	1250	c.863C>T	c.(862-864)aCc>aTc	p.T288I	GGA1_uc003ate.3_Missense_Mutation_p.T288I|GGA1_uc003atd.3_Intron|GGA1_uc003atf.3_Missense_Mutation_p.T215I	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	288	GAT.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GACAACCTCACCCAGGTGATC	0.642000														8			3		0	0	0.184627	0	0
PDE1B	5153	broad.mit.edu	37	12	54943752	54943752	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:54943752G>A	uc001sgd.2	+	1	489	c.96G>A	c.(94-96)tgG>tgA	p.W32*	PDE1B_uc010soz.2_5'UTR|PDE1B_uc010spa.1_5'Flank	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	32	Calmodulin-binding (Potential).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGAAGATGTGGATTAAGCTTC	0.632000														21			20		0	0	0.608945	0	0
KCNK1	3775	broad.mit.edu	37	1	233807084	233807084	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:233807084G>A	uc010pxo.1	+	2	987	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	273						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)	TCCATGAGCTGAAAAAATTCA	0.448000														11			37		0	0	0.812448	0	0
MUC16	94025	broad.mit.edu	37	19	9084492	9084492	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9084492G>A	uc002mkp.3	-	0	7527	c.7323C>T	c.(7321-7323)tcC>tcT	p.S2441S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2441	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						CACCCACATTGGAGCCCCCAT	0.498000														22			6		0	0	0.217242	0	0
DZIP1	22873	broad.mit.edu	37	13	96239829	96239829	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:96239829C>T	uc001vmk.3	-	19	3034	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	DZIP1_uc001vmj.3_Missense_Mutation_p.E204K|DZIP1_uc001vml.3_Missense_Mutation_p.E709K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	728					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCCTCGATTTCGCTTCCCTCG	0.547000														30			88		0	0	0.870114	0	0
EGR4	1961	broad.mit.edu	37	2	73518772	73518772	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:73518772A>G	uc010yrj.2	-	1	1658	c.1583T>C	c.(1582-1584)cTc>cCc	p.L528P	EGR4_uc010yrk.1_Missense_Mutation_p.L527P	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	424						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGCGTGGTGAGGTGGTCGCT	0.662000														35			21		0	0	0.706142	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698178	111698178	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:111698178C>T	uc022cct.1	+	0	222	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ZCCHC16_uc004epo.1_Silent_p.F74F	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	74							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTCAGAGTTCCTCACTCAGG	0.483000														19			22		0	0	0.706142	0	0
C15orf2	23742	broad.mit.edu	37	15	24922455	24922455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:24922455G>A	uc001ywo.3	+	0	1915	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	481	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					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)		TAATGAGAAAGGAGGCTCTTA	0.498000														118			34		0	0	0.796494	0	0
PREX2	80243	broad.mit.edu	37	8	69069587	69069587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:69069587G>A	uc003xxv.1	+	34	4289	c.4262G>A	c.(4261-4263)aGa>aAa	p.R1421K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1421					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						TATTATTACAGAGACAATGTT	0.353000														51			14		0	0	0.500413	0	0
ACSM4	341392	broad.mit.edu	37	12	7480886	7480886	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:7480886G>A	uc001qsx.1	+	12	1660	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	554					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAATTAGGTGGAATTTGTTCA	0.398000														2			3		0	0	0.115264	0	0
KRT4	3851	broad.mit.edu	37	12	53207481	53207481	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:53207481G>A	uc001saz.3	-	0	584	c.584C>T	c.(583-585)cCc>cTc	p.P195L		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	121						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CACGTGGAGGGGGGTGAGCAA	0.582000														40			40		0	0	0.864702	0	0
KIF15	56992	broad.mit.edu	37	3	44844305	44844305	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:44844305G>A	uc003cnx.4	+	14	1659	c.1510_splice	c.e14-1	p.I504_splice	KIF15_uc010hiq.3_Splice_Site_p.I407_splice|KIF15_uc003cny.1_Splice_Site_p.I139_splice	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	504					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTATGTCACAGATAGAGCACC	0.383000														57			42		0	0	0.870114	0	0
CCRL2	9034	broad.mit.edu	37	3	46450193	46450193	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:46450193T>C	uc010hjg.3	+	1	772	c.659T>C	c.(658-660)gTt>gCt	p.V220A	CCRL2_uc003cpp.4_Missense_Mutation_p.V208A|CCRL2_uc010hjf.3_Missense_Mutation_p.V208A|CCRL2_uc021wxc.1_Missense_Mutation_p.V208A	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	208					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		AACATTTCGGTTCTTGTCCTC	0.388000														55			33		0	0	0.804634	0	0
OR4K13	390433	broad.mit.edu	37	14	20502084	20502084	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:20502084G>A	uc010tkz.2	-	0	834	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	278					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)		AGAGAGGTGTGAAAATTGTGT	0.333000														1			8		0	0	0.307466	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184678	130184678	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:130184678G>A	uc009zyl.1	-	1	973	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	215						integral to membrane		p.S215F(1)		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)		GCTGGTCCACGGACTTCCTCC	0.692000														31			11		0	0	0.435327	0	0
OR6C4	341418	broad.mit.edu	37	12	55945169	55945169	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:55945169C>T	uc010spp.2	+	0	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418000														193			55		0	0	0.870114	0	0
IL1A	3552	broad.mit.edu	37	2	113541312	113541312	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:113541312C>T	uc002tig.3	-	1	996	c.36G>A	c.(34-36)aaG>aaA	p.K12K		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	12					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TGTAACAGTTCTTCAGGTCTT	0.463000														70			15		0	0	0.557998	0	0
ATRX	546	broad.mit.edu	37	X	76939747	76939747	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:76939747G>A	uc004ecp.4	-	8	1233	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	ATRX_uc004ecq.4_Missense_Mutation_p.S296F|ATRX_uc004eco.4_Missense_Mutation_p.S119F|ATRX_uc004ecr.2_Missense_Mutation_p.S295F|ATRX_uc010nlx.1_Missense_Mutation_p.S334F|ATRX_uc010nly.1_Missense_Mutation_p.S279F	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	334					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCCAGAACAGGAATCATCTAA	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							6			7		0	0	0.248553	0	0
POTEG	404785	broad.mit.edu	37	14	19553834	19553834	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:19553834C>T	uc001vuz.1	+	0	470	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	140										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCGAGAAGATCTGGACAAGCT	0.567000														63			23		0	0	0.804634	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835291	27835291	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:27835291G>A	uc003njx.3	-	0	69	c.17C>T	c.(16-18)cCt>cTt	p.P6L		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	6					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGTCTCGGCAGGAGCGGTTTC	0.587000														12			15		0	0	0.624587	0	0
TTN	7273	broad.mit.edu	37	2	179547505	179547505	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:179547505G>A	uc021vsy.1	-	131	29506	c.29281C>T	c.(29281-29283)Cca>Tca	p.P9761S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6422S|TTN_uc010fre.1_Missense_Mutation_p.P608S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10688	Ig-like 79.						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)			TCTTCTGTTGGTTCATACTCC	0.368000														69			72		0	0	0.870114	0	0
AGPHD1	123688	broad.mit.edu	37	15	78819789	78819789	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:78819789C>T	uc010unc.2	+	3	658	c.545C>T	c.(544-546)cCt>cTt	p.P182L	AGPHD1_uc002bdt.3_Missense_Mutation_p.P182L|AGPHD1_uc010ble.3_Missense_Mutation_p.P182L	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	182						cytoplasm	kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						AAAAATGTTCCTCTTCTGGAG	0.403000														58			46		0	0	0.870114	0	0
abParts	0	broad.mit.edu	37	14	106963025	106963025	+	RNA	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:106963025C>T	uc021ser.1	-	268		c.10705G>A								Parts of antibodies, mostly variable regions.																		AATGGTGACTCTGTCCTGGAA	0.527000														37			61		0	0	0.870114	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453000														75			5		0	0	0.248553	0	0
FIBCD1	84929	broad.mit.edu	37	9	133787192	133787192	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:133787192C>T	uc004bzz.3	-	4	1178	c.933G>A	c.(931-933)ggG>ggA	p.G311G	FIBCD1_uc011mcc.2_Silent_p.G311G	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	311	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCCAGTGCTCCCCGGTGAGCC	0.662000														2			6		0	0	0.278610	0	0
OR11L1	391189	broad.mit.edu	37	1	248004539	248004539	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:248004539G>A	uc001idn.1	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			AGGACACAATGAAAACATAGG	0.488000														8			29		0	0	0.740014	0	0
ANKS1B	56899	broad.mit.edu	37	12	99793546	99793546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:99793546C>T	uc001tge.2	-	11	2036	c.1619G>A	c.(1618-1620)cGa>cAa	p.R540Q	ANKS1B_uc001tgf.2_Missense_Mutation_p.R120Q|ANKS1B_uc009ztt.1_Missense_Mutation_p.R506Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	540						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTGATTCATTCGGTGAAAATC	0.418000														43			12		0	0	0.539581	0	0
MYH8	4626	broad.mit.edu	37	17	10317277	10317277	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:10317277C>T	uc002gmm.2	-	11	1184	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	363	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTTCATGTTCCCATAATGCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					49			56		0	0	0.870114	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121792	117121792	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:117121792G>A	uc003pxj.1	-	3	1525	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	GPRC6A_uc003pxk.1_Silent_p.F326F|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	501					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTGGGATGATGAAGACATCAT	0.408000														48			26		0	0	0.740014	0	0
ANAPC10	10393	broad.mit.edu	37	4	145985797	145985797	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:145985797G>A	uc003iju.4	-	4	409	c.254C>T	c.(253-255)tCt>tTt	p.S85F	ANAPC10_uc003ijv.4_Missense_Mutation_p.S85F|ANAPC10_uc003ijw.4_Missense_Mutation_p.S85F	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	Homo sapiens anaphase promoting complex subunit 10 (ANAPC10), mRNA.	85	DOC.				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	ubiquitin-protein ligase activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					GCTTTCATCAGATTTGTAGTC	0.294000														4			23		0	0	0.624587	0	0
LRRC1	55227	broad.mit.edu	37	6	53778708	53778708	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:53778708G>A	uc003pcd.1	+	10	1568	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	349						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)		GACTAACTCGGATACCTGCAG	0.468000														46			18		0	0	0.557998	0	0
RRAD	6236	broad.mit.edu	37	16	66956131	66956131	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:66956131C>T	uc002eqn.2	-	4	927	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	RRAD_uc002eqo.2_Missense_Mutation_p.E259K	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	259					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCGTTGGCTTCTTTGCTGTCC	0.587000														8			31		0	0	0.796494	0	0
C2orf55	343990	broad.mit.edu	37	2	99448879	99448879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	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														37			17		0	0	0.608945	0	0
TMEM38B	55151	broad.mit.edu	37	9	108467982	108467982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:108467982C>T	uc004bcu.1	+	1	334	c.217C>T	c.(217-219)Cca>Tca	p.P73S	TMEM38B_uc010mtn.1_Missense_Mutation_p.P73S	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	73						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TGCAGAGCCTCCATTGAAGTT	0.418000														19			45		0	0	0.870114	0	0
HMGB4	127540	broad.mit.edu	37	1	34330332	34330332	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:34330332G>A	uc021oky.1	+	0	540	c.540G>A	c.(538-540)ggG>ggA	p.G180G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.G180G|HMGB4_uc001bxq.3_Silent_p.G106G	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	180						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGTGCAGAGGGAAAAGAGTCA	0.453000														20			13		0	0	0.539581	0	0
SPINT1	6692	broad.mit.edu	37	15	41146659	41146659	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:41146659C>T	uc001zna.3	+	6	1257	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	SPINT1_uc001znb.3_Silent_p.F335F|SPINT1_uc001znc.3_Silent_p.F335F|SPINT1_uc010ucs.2_Silent_p.F342F	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	351	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TCGACAGTTTCCTGGAGTGTG	0.622000														24			24		0	0	0.740014	0	0
UGGT2	55757	broad.mit.edu	37	13	96665626	96665626	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:96665626G>A	uc001vmt.3	-	4	765	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.H199Y	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATACTTTGTGAAATGCACTA	0.353000														11			27		0	0	0.779181	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12812271	12812271	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:12812271G>A	uc002gnr.4	+	3	583	c.256G>A	c.(256-258)Gga>Aga	p.G86R	ARHGAP44_uc010vvk.2_Missense_Mutation_p.G86R|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G86R|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G86R|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	86	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AGCTATCCTGGGAGATGACAC	0.468000														160			49		0	0	0.870114	0	0
STOX2	56977	broad.mit.edu	37	4	184930405	184930405	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:184930405C>T	uc003ivz.1	+	2	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	138					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493000														9			7		0	0	0.278610	0	0
FAM116B	414918	broad.mit.edu	37	22	50757306	50757306	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:50757306A>G	uc011arv.1	-	2	301	c.229T>C	c.(229-231)Tgc>Cgc	p.C77R		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	77										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACAGGTAGCAGATGCTGCTT	0.597000														18			18		0	0	0.667858	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944829	43944829	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:43944829C>T	uc010skx.2	-	1	336	c.336G>A	c.(334-336)ccG>ccA	p.P112P		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	112						proteinaceous extracellular matrix	zinc ion binding	p.P112Q(1)		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)		CCCCGCGCTCCGGGGTTCCCA	0.652000														12			9		0	0	0.387290	0	0
TBC1D23	55773	broad.mit.edu	37	3	100002625	100002625	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:100002625T>A	uc003dtt.3	+	3	623	c.446T>A	c.(445-447)tTt>tAt	p.F149Y	TBC1D23_uc003dts.3_Missense_Mutation_p.F149Y	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	149	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TACAACTGCTTTTATGCCATA	0.358000														63			39		0	0	0.870114	0	0
PKD1L1	168507	broad.mit.edu	37	7	47876654	47876654	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:47876654G>A	uc003tny.2	-	36	5842	c.5808C>T	c.(5806-5808)ttC>ttT	p.F1936F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1936					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						GCCAGACATGGAAATCCTCCA	0.552000														39			18		0	0	0.592651	0	0
SCAND3	114821	broad.mit.edu	37	6	28540518	28540518	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:28540518G>A	uc003nlo.3	-	3	3766	c.3148C>T	c.(3148-3150)Cat>Tat	p.H1050Y		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1050					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						agttgcttatgatcagcttcc	0.303000														61			37		0	0	0.870114	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262675	1262675	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:1262675C>T	uc001aeo.3	+	2	592	c.177C>T	c.(175-177)tcC>tcT	p.S59S	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001ael.2_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	Homo sapiens glycolipid transfer protein domain containing 1 (GLTPD1), mRNA.	59						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	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;4.95e-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;0.199)		ACGTGGTCTCCAAGCTGCGGA	0.662000														7			20		0	0	0.667858	0	0
GPR64	10149	broad.mit.edu	37	X	19028764	19028764	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:19028764G>A	uc004cyx.3	-	16	1474	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	GPR64_uc004cze.3_Missense_Mutation_p.S381F|GPR64_uc004cza.3_Missense_Mutation_p.S389F|GPR64_uc004czf.3_Missense_Mutation_p.S373F|GPR64_uc004cyy.3_Missense_Mutation_p.S408F|GPR64_uc004czc.3_Missense_Mutation_p.S395F|GPR64_uc004cyz.3_Missense_Mutation_p.S397F|GPR64_uc004czb.3_Missense_Mutation_p.S411F|GPR64_uc004czd.3_Missense_Mutation_p.S387F|GPR64_uc004cyw.3_Missense_Mutation_p.S395F|GPR64_uc010nfj.3_Missense_Mutation_p.S381F	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	411					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.P410T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTCAGGCGGGGAATGAAGGAG	0.537000														92			11		0	0	0.520397	0	0
KCNK15	60598	broad.mit.edu	37	20	43374695	43374696	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:43374695_43374696CC>TT	uc002xmr.3	+	0	208_209	c.144_145CC>TT	c.(142-147)ctccgg>ctTTgg	p.R49W		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	49						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GGGGCGCTCTCCGGAGGAAGTT	0.713000														5			3		0	0	0.115264	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12862070	12862070	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:12862070C>T	uc002gnr.4	+	15	1706	c.1379C>T	c.(1378-1380)cCa>cTa	p.P460L	ARHGAP44_uc010vvk.2_Missense_Mutation_p.P460L|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P460L|ARHGAP44_uc002gns.4_Missense_Mutation_p.P260L|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P460L|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_Missense_Mutation_p.P183L	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	460					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TATGGGAGTCCAGTACACGTG	0.577000														24			3		0	0	0.184627	0	0
TREML2	79865	broad.mit.edu	37	6	41166097	41166097	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:41166097G>A	uc010jxm.1	-	1	305	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	42	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCCTTATAGGAGCACTGCA	0.517000														81			47		0	0	0.870114	0	0
POU5F2	134187	broad.mit.edu	37	5	93076865	93076865	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:93076865C>T	uc003kkl.1	-	0	445	c.405G>A	c.(403-405)caG>caA	p.Q135Q	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	135	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TCAACCTCTTCTGCCTCAACT	0.592000														18			27		0	0	0.760397	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319632	21319632	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:21319632C>T	uc021tss.1	+	2	1348	c.978C>T	c.(976-978)cgC>cgT	p.R326R	KCNJ18_uc002gyv.1_Silent_p.R326R|KCNJ18_uc021tst.1_Silent_p.R326R	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	326						integral to membrane	inward rectifier potassium channel activity										GGGGTCACCGCTTTGAGCCCG	0.587000														177			13		0	0	0.557998	0	0
WDR75	84128	broad.mit.edu	37	2	190334870	190334870	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:190334870C>T	uc002uql.1	+	16	1948	c.1888C>T	c.(1888-1890)Cag>Tag	p.Q630*	WDR75_uc002uqm.1_Nonsense_Mutation_p.Q566*|WDR75_uc002uqn.1_Nonsense_Mutation_p.Q408*	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	630						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AGAGAAAGTCCAGTGGGGAGT	0.398000														105			47		0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9085237	9085237	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9085237G>A	uc002mkp.3	-	0	6782	c.6578C>T	c.(6577-6579)tCc>tTc	p.S2193F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2193	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						CATTCTAAAGGAAACCAAAGA	0.468000														19			3		0	0	0.150653	0	0
EPPK1	83481	broad.mit.edu	37	8	144940333	144940333	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:144940333G>A	uc003zaa.1	-	0	7102	c.7089C>T	c.(7087-7089)taC>taT	p.Y2363Y		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2363						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)			AGCCGCGCCGGTAGGCCACGT	0.692000														340			12		0	0	0.592651	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325268	150325268	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:150325268G>A	uc022apv.1	-	2	1108	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	GIMAP6_uc003whn.3_Nonsense_Mutation_p.Q140*|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	140							GTP binding	p.A210A(1)|p.E209K(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACCTGCTGATCCTCATCC	0.637000														47			21		0	0	0.639603	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003370	23003370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:23003370C>T	uc003xcz.1	-	4	639	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	183					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GCAGCTGATTCATTTTTGCAC	0.532000														46			52		0	0	0.870114	0	0
PRR25	388199	broad.mit.edu	37	16	863791	863791	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:863791C>G	uc010uut.2	+	2	1139	c.1139C>G	c.(1138-1140)cCg>cGg	p.P380R		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	Homo sapiens proline rich 25 (PRR25), mRNA.	380										large_intestine(1)|lung(1)|skin(1)	3						CGGTTCGGGCCGCGCTCCTGC	0.786000														1			6		0	0	0.278610	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554380	140554380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:140554380C>T	uc003lit.3	+	0	2138	c.1964C>T	c.(1963-1965)aCc>aTc	p.T655I	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	655	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T655T(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)			CGCTCGGCCACCGCCACGCTG	0.711000														194			33		0	0	0.827153	0	0
DSG1	1828	broad.mit.edu	37	18	28926037	28926037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:28926037G>A	uc002kwp.3	+	13	2188	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	DSG1_uc010xbp.2_Missense_Mutation_p.G18E|U6_uc021uin.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	659					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTAACAGAGGGAGTTAAAACT	0.383000														27			16		0	0	0.520397	0	0
CCDC60	160777	broad.mit.edu	37	12	119957972	119957972	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:119957972G>A	uc001txe.3	+	8	1480	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	339										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)		TGCTTATAAGGAAATGCAGAC	0.483000														82			29		0	0	0.760397	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138892	101138892	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:101138892G>A	uc011mrl.2	-	6	1857	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	ZMAT1_uc004eim.3_Nonsense_Mutation_p.Q332*|ZMAT1_uc004ein.3_Nonsense_Mutation_p.Q332*|ZMAT1_uc011mrm.2_Nonsense_Mutation_p.Q332*	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	332						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTTCTTGCTGATTAAGGCTC	0.408000														8			4		0	0	0.248553	0	0
COL4A1	1282	broad.mit.edu	37	13	110813568	110813568	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:110813568C>T	uc001vqw.4	-	48	4733	c.4611G>A	c.(4609-4611)acG>acA	p.T1537T		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1537	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGTTTTCCCCCGTGATGGGTG	0.448000														48			3		0	0	0.184627	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806033	97806033	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:97806033G>A	uc011bgs.2	+	0	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATATCAGAGGGAAATAAGACT	0.373000														91			51		0	0	0.870114	0	0
MPP1	4354	broad.mit.edu	37	X	154020553	154020553	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:154020553G>A	uc004fmp.2	-	1	264	c.110C>T	c.(109-111)tCg>tTg	p.S37L	MPP1_uc011mzv.2_Missense_Mutation_p.S7L|MPP1_uc010nvg.2_Missense_Mutation_p.S37L|MPP1_uc011mzw.2_Missense_Mutation_p.S37L|MPP1_uc010nvh.2_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	37					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAATGGATGCGATACAGCCTG	0.532000														40			4		0	0	0.248553	0	0
TROAP	10024	broad.mit.edu	37	12	49717459	49717459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:49717459C>T	uc009zlh.3	+	1	235	c.68C>T	c.(67-69)cCg>cTg	p.P23L	TROAP_uc001rtv.3_Missense_Mutation_p.P23L|TROAP_uc001rtw.4_Missense_Mutation_p.P23L|TROAP_uc001rtx.4_Missense_Mutation_p.P23L	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	23					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGCAAGATTCCGGTACGCTCT	0.582000														103			78		0	0	0.870114	0	0
PLCXD3	345557	broad.mit.edu	37	5	41510611	41510611	+	Silent	SNP	C	T	T	rs150477234	by1000genomes	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:41510611C>T	uc003jmm.1	-	0	120	c.18G>A	c.(16-18)ggG>ggA	p.G6G		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	6					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.G6R(1)		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						GCTCGTTTTTCCCCTGAGACG	0.617000														7			16		0	0	0.539581	0	0
PRR12	57479	broad.mit.edu	37	19	50118189	50118189	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:50118189C>T	uc002poo.4	+	7	4947	c.4947C>T	c.(4945-4947)ttC>ttT	p.F1649F		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	828							DNA binding	p.F829F(1)|p.F1649F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ATGTAAAGTTCCTGGAAAATG	0.512000														14			18		0	0	0.575678	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795125	100795125	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:100795125G>A	uc001yhc.3	+	4	463	c.390G>A	c.(388-390)caG>caA	p.Q130Q	SLC25A47_uc001yhd.3_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	130					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CACAGGCGCAGAAGCAGCAGC	0.677000														5			20		0	0	0.624587	0	0
SAMD7	344658	broad.mit.edu	37	3	169639031	169639031	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:169639031C>T	uc003fgd.3	+	3	383	c.116C>T	c.(115-117)aCt>aTt	p.T39I	SAMD7_uc003fge.3_Missense_Mutation_p.T39I|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	39										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTAGCTCCAACTGACCCAAGA	0.413000														89			58		0	0	0.870114	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138577	126138577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:126138577C>T	uc001uhe.1	+	8	2566	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	TMEM132B_uc001uhf.1_Missense_Mutation_p.P365L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	853						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)		CCCCAGTCTCCCATGGAAGGG	0.522000														14			11		0	0	0.435327	0	0
COL3A1	1281	broad.mit.edu	37	2	189875409	189875410	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:189875409_189875410CC>TT	uc002uqj.1	+	49	4164_4165	c.4047_4048CC>TT	c.(4045-4050)gtcctt>gtTTtt	p.L1350F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1350	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			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)	CTGAAGATGTCCTTGATGTGCA	0.441000														109			9		0	0	0.115264	0	0
LTBP4	8425	broad.mit.edu	37	19	41113412	41113412	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:41113412A>T	uc002ooh.1	+	9	1334	c.1334A>T	c.(1333-1335)cAg>cTg	p.Q445L	LTBP4_uc002oog.1_Missense_Mutation_p.Q408L|LTBP4_uc002ooi.1_Missense_Mutation_p.Q378L|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	445	TB 2.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGGGCTGCCAGCTCTGCCCA	0.662000														4			12		0	0	0.500413	0	0
SELT	51714	broad.mit.edu	37	3	150344871	150344871	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:150344871G>A	uc021xfp.1	+	4	622	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_016275		P62341	SELT_HUMAN	Homo sapiens selenoprotein T (SELT), mRNA.	180					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTTGACAATGAAATGAAGCT	0.403000														79			53		0	0	0.870114	0	0
ITIH2	3698	broad.mit.edu	37	10	7768995	7768995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:7768995G>A	uc001ijs.3	+	9	1229	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	356	VWFA.				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						CAGAACATTCGAACTTGGAGA	0.403000														11			30		0	0	0.796494	0	0
ACAN	176	broad.mit.edu	37	15	89392754	89392754	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:89392754C>T	uc010upo.1	+	9	2192	c.1818C>T	c.(1816-1818)gcC>gcT	p.A606A	ACAN_uc002bmx.3_Silent_p.A606A|ACAN_uc010upp.1_Silent_p.A606A|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	606					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)			CTACGCTGGCCACCACGGGCC	0.647000														9			11		0	0	0.411799	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189262	102189262	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:102189262G>A	uc003dvt.1	+	8	1106	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ZPLD1_uc003dvs.1_Missense_Mutation_p.D320N|ZPLD1_uc011bhg.1_Missense_Mutation_p.D320N	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	320						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AGAAAGGAGAGATGCTGGGAG	0.512000														40			19		0	0	0.639603	0	0
OR6C74	254783	broad.mit.edu	37	12	55641256	55641256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:55641256G>A	uc010spg.2	+	0	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R62Q(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCTTCCTCCGAAATTTCTCA	0.383000														70			54		0	0	0.870114	0	0
OR9A4	130075	broad.mit.edu	37	7	141619006	141619006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:141619006G>A	uc003vwu.1	+	0	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	111					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)					GGGGACAACAGAGTTCGCATT	0.493000														71			58		0	0	0.870114	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	Missense_Mutation	SNP	T	C	C	rs147293416	by1000genomes	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:72658179T>C	uc003txs.1	-	12	1733	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		cagagtgatttcggatgaatt	0.507000														70			3		0	0	0.115264	0	0
abParts	0	broad.mit.edu	37	14	106478136	106478136	+	RNA	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:106478136C>T	uc021ser.1	-	2451		c.42937G>A								Parts of antibodies, mostly variable regions.																		ACGGCCGTGTCCGCGGCGGTC	0.607000														327			30		0	0	0.870114	0	0
PHYH	5264	broad.mit.edu	37	10	13325836	13325836	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:13325836C>T	uc001imf.3	-	6	770	c.682G>A	c.(682-684)Gga>Aga	p.G228R	PHYH_uc001ime.3_Missense_Mutation_p.G128R	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTGTTAACTCCCCCCTAGAAC	0.458000														61			95		0	0	0.870114	0	0
ODZ3	55714	broad.mit.edu	37	4	183594241	183594241	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:183594241C>T	uc003ivd.1	+	5	1270	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	399					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)		TCAAGAGATTCCTCCCGGGAT	0.403000														1			6		0	0	0.217242	0	0
MARCH7	64844	broad.mit.edu	37	2	160605239	160605239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:160605239C>T	uc002uax.3	+	4	1560	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	MARCH7_uc010foq.3_Missense_Mutation_p.P480S|MARCH7_uc010zcn.2_Missense_Mutation_p.P424S|MARCH7_uc010for.3_Missense_Mutation_p.P442S|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	480							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGGGATTCTTCCTGGTTCCTT	0.463000														244			80		0	0	0.870114	0	0
C2orf71	388939	broad.mit.edu	37	2	29294105	29294105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:29294105C>T	uc002rmt.2	-	0	3023	c.3023G>A	c.(3022-3024)aGg>aAg	p.R1008K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1008					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCTCCGGCGCCTCTTGTCTGC	0.662000														25			11		0	0	0.411799	0	0
MUTYH	4595	broad.mit.edu	37	1	45797205	45797205	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:45797205A>G	uc001cnm.3	-	12	1417	c.1201T>C	c.(1201-1203)Ttc>Ctc	p.F401L	MUTYH_uc001cnf.3_Missense_Mutation_p.F376L|MUTYH_uc009vxo.3_Missense_Mutation_p.F376L|MUTYH_uc001cng.3_Missense_Mutation_p.F387L|MUTYH_uc001cnj.3_Missense_Mutation_p.F284L|MUTYH_uc001cni.3_Missense_Mutation_p.F376L|MUTYH_uc001cnh.3_Missense_Mutation_p.F377L|MUTYH_uc001cnl.3_Missense_Mutation_p.F390L|MUTYH_uc009vxp.3_Missense_Mutation_p.F404L|MUTYH_uc001cnn.3_Missense_Mutation_p.F391L|MUTYH_uc001cno.3_Missense_Mutation_p.F284L|MUTYH_uc010oll.2_Missense_Mutation_p.F85L	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	401	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACGGACGGGAACTCCCACAGT	0.652000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					3			20		0	0	0.624587	0	0
HACE1	57531	broad.mit.edu	37	6	105280966	105280966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:105280966G>A	uc003pqu.1	-	5	762	c.485C>T	c.(484-486)gCc>gTc	p.A162V	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A162V|Metazoa_SRP_uc021zdn.1_5'Flank	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	162					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	p.A162V(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGCCCCATGGCATCCTCAAC	0.468000														48			32		0	0	0.796494	0	0
NOS3	4846	broad.mit.edu	37	7	150698379	150698379	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:150698379G>A	uc003wif.3	+	10	1590	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	NOS3_uc011kuy.2_Missense_Mutation_p.E226K|NOS3_uc011kva.2_Missense_Mutation_p.E432K|NOS3_uc011kuz.2_Missense_Mutation_p.E432K|NOS3_uc011kvb.2_Missense_Mutation_p.E432K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	432	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GAAGCACCTGGAGAATGAGCA	0.622000														65			47		0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75037994	75037994	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:75037994C>T	uc001dgg.3	-	13	3619	c.3400G>A	c.(3400-3402)Gct>Act	p.A1134T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1134	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AACTCAGAAGCCTCCACAGGT	0.468000														9			12		0	0	0.457914	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501427	90501427	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:90501427C>T	uc004app.4	+	3	2060	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	FAM75E1_uc004apo.1_Silent_p.L487L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	675						integral to membrane											AGCAGGCCCTCTTGCCCTCCC	0.612000														8			14		0	0	0.479597	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153858	248153858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:248153858G>A	uc001idv.1	+	0	290	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						CACTGGGTGTGGGATTCAGAG	0.428000														14			50		0	0	0.870114	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806188	97806188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:97806188C>T	uc011bgs.2	+	0	172	c.172C>T	c.(172-174)Cat>Tat	p.H58Y		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L57F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CCCCCATCTTCATATGCCCAT	0.443000														139			74		0	0	0.870114	0	0
DCC	1630	broad.mit.edu	37	18	51013265	51013265	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:51013265C>T	uc002lfe.2	+	25	4451	c.3835C>T	c.(3835-3837)Ctc>Ttc	p.L1279F	DCC_uc010dpf.2_Missense_Mutation_p.L914F	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1279					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)		GCAGTTCACTCTCCGGCCTGT	0.542000														65			44		0	0	0.870114	0	0
THSD7B	80731	broad.mit.edu	37	2	138425365	138425365	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:138425365T>C	uc002tva.1	+	25	4583	c.4583T>C	c.(4582-4584)gTt>gCt	p.V1528A		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAATTTGGGTTTATGGCGTT	0.358000														1			6		0	0	0.278610	0	0
OR7G1	125962	broad.mit.edu	37	19	9225778	9225778	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9225778A>G	uc021uoi.1	-	0	662	c.662T>C	c.(661-663)aTa>aCa	p.I221T	OR7G1_uc002mks.1_Missense_Mutation_p.I221T	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGAGGTGACTATTTGAGAATA	0.408000														22			29		0	0	0.788014	0	0
INSRR	3645	broad.mit.edu	37	1	156819156	156819156	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:156819156G>A	uc010pht.2	-	5	1625	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	442					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)					GGTTGAAGGCGAAGTAGATCT	0.602000														30			105		0	0	0.870114	0	0
POLR2A	5430	broad.mit.edu	37	17	7417414	7417414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:7417414C>T	uc002ghf.4	+	28	6217	c.5831C>T	c.(5830-5832)tCc>tTc	p.S1944F		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1944	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCTCCCACTTCCCCTGGTTAC	0.637000														32			28		0	0	0.812448	0	0
HK3	3101	broad.mit.edu	37	5	176308809	176308809	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:176308809G>A	uc003mfa.3	-	16	2369	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	HK3_uc003mez.3_Silent_p.I315I	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	759	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGCGGACGATCTCCCCCA	0.567000														14			27		0	0	0.740014	0	0
MMP12	4321	broad.mit.edu	37	11	102738082	102738082	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:102738082G>A	uc001phk.3	-	6	924	c.827C>T	c.(826-828)tCa>tTa	p.S276L		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	277					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGCTGGTTCTGAATTGTCAGG	0.398000														2			10		0	0	0.361761	0	0
ABCA13	154664	broad.mit.edu	37	7	48559846	48559846	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:48559846C>T	uc003toq.2	+	52	14031	c.14007C>T	c.(14005-14007)ctC>ctT	p.L4669L	ABCA13_uc010kys.1_Silent_p.L1744L|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.L399L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4669					transport	integral to membrane	ATP binding|ATPase activity	p.L4668I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTACTTCTCCTCTTGAGGG	0.522000														23			19		0	0	0.575678	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128925	197128925	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:197128925G>A	uc001gtx.1	-	9	2363	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AACTGGCAAGGATACAAGTTT	0.383000														27			96		0	0	0.870114	0	0
ACTN4	81	broad.mit.edu	37	19	39207754	39207754	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:39207754C>T	uc002oja.2	+	9	1060	c.941C>T	c.(940-942)cCc>cTc	p.P314L	ACTN4_uc010egc.2_Missense_Mutation_p.P314L|ACTN4_uc021uug.1_Missense_Mutation_p.P95L	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	314					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCACCATCCCCTGGCTGGAG	0.647000														6			6		0	0	0.278610	0	0
PTPRN	5798	broad.mit.edu	37	2	220155547	220155547	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:220155547C>T	uc002vkz.3	-	21	3035	c.2794_splice	c.e21+1	p.G932_splice	PTPRN_uc010zlc.2_Splice_Site_p.G842_splice|PTPRN_uc002vla.3_Splice_Site_p.G903_splice	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	932	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AAGCTCCCTACCTTTTGCCAT	0.587000														76			16		0	0	0.557998	0	0
UPF3B	65109	broad.mit.edu	37	X	118971941	118971941	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:118971941G>A	uc004erz.2	-	9	1181	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	UPF3B_uc004esa.2_Nonsense_Mutation_p.R348*	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	361	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R361*(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTCTTTCTCGAAGTATGCGC	0.463000														53			4		0	0	0.184627	0	0
PLCD3	113026	broad.mit.edu	37	17	43196224	43196225	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:43196224_43196225GG>AA	uc002iib.3	-	4	984_985	c.870_871CC>TT	c.(868-873)gcccgc>gcTTgc	p.R291C		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	291					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R291S(3)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	TGCTGGGCGCGGGCCAGTGTGG	0.649000														10			7		0	0	0.115264	0	0
FAM194A	131831	broad.mit.edu	37	3	150391765	150391765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:150391765G>A	uc003eyg.3	-	10	1378	c.1321C>T	c.(1321-1323)Cca>Tca	p.P441S	FAM194A_uc003eyh.3_Missense_Mutation_p.P295S	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	441										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTCCCATCTGGAAATGAAGTC	0.338000														53			31		0	0	0.804634	0	0
C17orf90	339229	broad.mit.edu	37	17	79632478	79632478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:79632478G>A	uc002kba.3	-	1	208	c.197C>T	c.(196-198)tCc>tTc	p.S66F	C17orf90_uc002kbb.3_3'UTR|CCDC137_uc002kbc.4_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	Homo sapiens chromosome 17 open reading frame 90 (C17orf90), mRNA.	66										lung(2)|prostate(1)	3	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACCTGCTTGGGAGCCCACCTC	0.642000														47			7		0	0	0.278610	0	0
CD207	50489	broad.mit.edu	37	2	71060133	71060134	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:71060133_71060134GT>AA	uc002shg.3	-	3	661_662	c.614_615AC>TT	c.(613-615)aac>aTT	p.N205I		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	205	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AGTAATAGAAGTTCCCCTTGAA	0.450000														16			24		0	0	0.115264	0	0
FARSB	10056	broad.mit.edu	37	2	223507586	223507586	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:223507586G>A	uc010zlq.1	-	3	348	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	FARSB_uc002vne.1_Nonsense_Mutation_p.Q85*|FARSB_uc002vnf.1_5'UTR	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	85					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGAAGACCTGAAGTCCTCGA	0.393000														36			11		0	0	0.479597	0	0
DNAH11	8701	broad.mit.edu	37	7	21646282	21646282	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:21646282C>T	uc003svc.3	+	19	3814	c.3783C>T	c.(3781-3783)ttC>ttT	p.F1261F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1261	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGCAGAGTTCAGAGAGAGAT	0.338000									Kartagener syndrome					5			12		0	0	0.411799	0	0
ABCA12	26154	broad.mit.edu	37	2	215855672	215855672	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:215855672G>A	uc002vew.3	-	23	3598	c.3378C>T	c.(3376-3378)atC>atT	p.I1126I	ABCA12_uc002vev.3_Silent_p.I808I|ABCA12_uc010zjn.2_Silent_p.I53I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1126					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAGGATCACGATGGTAACCA	0.378000														75			21		0	0	0.639603	0	0
SDPR	8436	broad.mit.edu	37	2	192711433	192711433	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:192711433C>T	uc002utb.3	-	0	574	c.219G>A	c.(217-219)caG>caA	p.Q73Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	73						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)	GCTGGTTCTCCTGCACAGCGT	0.572000														39			16		0	0	0.575678	0	0
EPHA1	2041	broad.mit.edu	37	7	143095045	143095045	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:143095045G>A	uc003wcz.3	-	7	1670	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	528	Fibronectin type-III 2.					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)				ATGATCAGGGGAGAAAGGGCC	0.567000														58			30		0	0	0.796494	0	0
DSC1	1823	broad.mit.edu	37	18	28728554	28728554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:28728554G>A	uc002kwn.3	-	5	941	c.679C>T	c.(679-681)Cct>Tct	p.P227S	DSC1_uc002kwm.3_Missense_Mutation_p.P227S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	227	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATGATCAAAGGGAGTGGATAT	0.378000														48			24		0	0	0.693898	0	0
SI	6476	broad.mit.edu	37	3	164739070	164739070	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:164739070G>A	uc003fei.3	-	26	3264	c.3201C>T	c.(3199-3201)atC>atT	p.I1067I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1067	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)	GATTTTCCTTGATTTCCACAT	0.343000										HNSCC(35;0.089)				93			61		0	0	0.870114	0	0
TAMM41	132001	broad.mit.edu	37	3	11885563	11885563	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:11885563G>A	uc011auo.1	-	1	500	c.258C>T	c.(256-258)tcC>tcT	p.S86S	TAMM41_uc003bwh.3_Silent_p.S86S|TAMM41_uc003bwi.3_Non-coding_Transcript|TAMM41_uc011aup.1_Non-coding_Transcript|TAMM41_uc010hdy.1_Non-coding_Transcript	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	Homo sapiens TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) (TAMM41), nuclear gene encoding mitochondrial protein, mRNA.	86					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											TATTCTGGATGGACGTGATAA	0.418000														29			15		0	0	0.500413	0	0
MUC16	94025	broad.mit.edu	37	19	9057066	9057066	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9057066G>A	uc002mkp.3	-	2	30584	c.30380C>T	c.(30379-30381)tCc>tTc	p.S10127F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10129	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						TGTAGCCTTGGATGGCTCCGA	0.468000														20			4		0	0	0.150653	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368173	111368173	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:111368173G>A	uc003puq.3	-	0	585	c.450C>T	c.(448-450)ttC>ttT	p.F150F						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		ATCGGGAGATGAAGTCCTTCA	0.493000														30			12		0	0	0.479597	0	0
OR1E1	8387	broad.mit.edu	37	17	3301698	3301698	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:3301698C>T	uc002fvj.1	-	0	7	c.7G>A	c.(7-9)Gga>Aga	p.G3R		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGATTTTGTCCCATCATGCTC	0.433000														36			27		0	0	0.840704	0	0
ITFG1	81533	broad.mit.edu	37	16	47292640	47292640	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:47292640G>A	uc002eet.3	-	11	1292	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	ITFG1_uc010vgg.2_Silent_p.D156D|ITFG1_uc010vgh.2_Silent_p.D298D	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	411						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GCACTACAATGTCCAAGATTC	0.284000														8			11		0	0	0.411799	0	0
LRRC16A	55604	broad.mit.edu	37	6	25610296	25610296	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:25610296C>T	uc011djw.2	+	35	4234	c.3866C>T	c.(3865-3867)cCa>cTa	p.P1289L	LRRC16A_uc010jpy.3_Missense_Mutation_p.P1283L	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1289					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAGACTCTCCATCTAGCCCG	0.458000														159			30		0	0	0.812448	0	0
SPACA3	124912	broad.mit.edu	37	17	31324751	31324751	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:31324751C>T	uc002hhs.1	+	4	678	c.603C>T	c.(601-603)tgC>tgT	p.C201C	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	201					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGCATCACTGCCAGGGAAAAG	0.537000														70			15		0	0	0.575678	0	0
RPS20	6224	broad.mit.edu	37	8	56985774	56985774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:56985774G>A	uc003xsm.2	-	3	433	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	RPS20_uc003xsn.2_Missense_Mutation_p.R79C	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	79					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome	p.R79C(1)					all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			ATCTGGAAACGATCCCACGTC	0.398000														49			39		0	0	0.870114	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140797886	140797886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:140797886C>T	uc003lkn.2	+	0	627	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	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.L154F|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.	154	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)			GGGAACAATTCTTGAGTCTGC	0.418000														5			13		0	0	0.479597	0	0
XDH	7498	broad.mit.edu	37	2	31562483	31562483	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:31562483G>A	uc002rnv.1	-	33	3725	c.3646C>T	c.(3646-3648)Ccc>Tcc	p.P1216S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1216					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCCCCTCGGGGGAATAGTGT	0.612000														23			29		0	0	0.740014	0	0
CADM2	253559	broad.mit.edu	37	3	85984971	85984971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:85984971C>T	uc003dql.3	+	5	734	c.734C>T	c.(733-735)cCt>cTt	p.P245L	CADM2_uc003dqj.3_Missense_Mutation_p.P243L|CADM2_uc003dqk.3_Missense_Mutation_p.P252L|CADM2_uc003dqm.2_Missense_Mutation_p.P135L|CADM2_uc021xay.1_Missense_Mutation_p.P135L|CADM2_uc021xaz.1_Missense_Mutation_p.P135L|CADM2_uc021xba.1_Missense_Mutation_p.P135L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	243	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAAGGACAGCCTTTAATTTTG	0.303000														67			40		0	0	0.870114	0	0
DNAH8	1769	broad.mit.edu	37	6	38813380	38813380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:38813380G>A	uc021yzh.1	+	35	4985	c.4876G>A	c.(4876-4878)Gat>Aat	p.D1626N	DNAH8_uc003ooe.2_Missense_Mutation_p.D1409N	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						TAAGGAGAAGGATATCGAAGC	0.383000														42			13		0	0	0.557998	0	0
CNTN6	27255	broad.mit.edu	37	3	1424750	1424750	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:1424750G>A	uc003boz.3	+	17	2558	c.2291G>A	c.(2290-2292)aGa>aAa	p.R764K	CNTN6_uc011asj.2_Missense_Mutation_p.R692K|CNTN6_uc003bpa.3_Missense_Mutation_p.R764K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	764	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.R764T(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTTGTCTACAGAAATGAAAGC	0.458000														48			39		0	0	0.870114	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218206	57218206	+	Silent	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:57218206T>C	uc010lyk.1	-	5	1424	c.786A>G	c.(784-786)aaA>aaG	p.K262K	SDR16C5_uc003xsy.1_Silent_p.K262K|SDR16C5_uc010lyl.1_Silent_p.K218K	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	262					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						ACAAGTACATTTTTTCTTGTA	0.318000														17			17		0	0	0.592651	0	0
KDR	3791	broad.mit.edu	37	4	55984957	55984957	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:55984957C>T	uc003has.3	-	2	474	c.172G>A	c.(172-174)Gac>Aac	p.D58N	KDR_uc003hat.1_Missense_Mutation_p.D58N|KDR_uc011bzx.2_Missense_Mutation_p.D58N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	58	Ig-like C2-type 1.				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	p.R57T(1)		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)	CAGTCCAAGTCCCTCTGTCCC	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				14			29		0	0	0.804634	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117630	117630	+	RNA	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrGL000205.1:117630G>A	uc002kgk.4	+	0		c.1008G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGAACAGGTCGCTGTACCAGG	0.602000														12			4		0	0	0.361761	0	0
KLHL15	80311	broad.mit.edu	37	X	24006881	24006881	+	Silent	SNP	G	A	A	rs144704626	by1000genomes	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:24006881G>A	uc004dba.4	-	3	1228	c.972C>T	c.(970-972)atC>atT	p.I324I		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	324										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AATTATTGACGATAGCAAGGC	0.468000														24			24		0	0	0.760397	0	0
CCDC144C	348254	broad.mit.edu	37	17	20239222	20239222	+	RNA	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:20239222C>T	uc010cqy.1	+	2		c.636C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TGATAAATGTCCATCTGTATC	0.393000														20			19		0	0	0.812448	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:44555292C>T	uc010xdb.2	-	0	1158	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000														293			11		0	0	0.435327	0	0
CYTIP	9595	broad.mit.edu	37	2	158272620	158272620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:158272620C>T	uc002tzj.1	-	7	721	c.649G>A	c.(649-651)Gac>Aac	p.D217N	CYTIP_uc010zcl.1_Missense_Mutation_p.D111N	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	217					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCATCCAAGTCCATGTTTTCC	0.473000														16			19		0	0	0.639603	0	0
SCN5A	6331	broad.mit.edu	37	3	38647496	38647496	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:38647496C>T	uc021wvo.1	-	8	1336	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	SCN5A_uc021wvk.1_Silent_p.E428E|SCN5A_uc021wvl.1_Silent_p.E428E|SCN5A_uc021wvm.1_Silent_p.E428E|SCN5A_uc021wvn.1_Silent_p.E428E|SCN5A_uc021wvp.1_Silent_p.E428E|SCN5A_uc021wvq.1_Silent_p.E428E|SCN5A_uc021wvr.1_Silent_p.E428E|SCN5A_uc021wvs.1_Silent_p.E428E|SCN5A_uc021wvt.1_Silent_p.E428E|SCN5A_uc021wvu.1_Silent_p.E428E|SCN5A_uc021wvv.1_Silent_p.E428E|SCN5A_uc021wvj.1_Silent_p.E294E|SCN5A_uc021wvi.1_Silent_p.E294E|SCN5A_uc021wvw.1_Silent_p.E39E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	428			E -> K (found in patients with atrial fibrillation).		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)	TTTCCTTCTCCTCGGTCTCAG	0.562000														36			15		0	0	0.539581	0	0
BSN	8927	broad.mit.edu	37	3	49692966	49692966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:49692966G>A	uc003cxe.4	+	4	6091	c.5977G>A	c.(5977-5979)Ggc>Agc	p.G1993S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1993					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)		GGCTGAGGCTGGCCTCAACTA	0.622000														53			19		0	0	0.592651	0	0
CCDC148	130940	broad.mit.edu	37	2	159166097	159166097	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:159166097T>C	uc002tzq.3	-	8	1272	c.958A>G	c.(958-960)Atc>Gtc	p.I320V	CCDC148_uc002tzr.3_Missense_Mutation_p.I168V|CCDC148_uc010foh.3_Missense_Mutation_p.I33V|CCDC148_uc010fok.2_Missense_Mutation_p.I234V|CCDC148_uc010foi.2_Missense_Mutation_p.I267V|CCDC148_uc010foj.2_Missense_Mutation_p.I168V	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	320										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATATCAGGATATTTTGCTGC	0.363000														24			13		0	0	0.479597	0	0
EPB41L1	2036	broad.mit.edu	37	20	34802352	34802352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:34802352C>T	uc010gfq.3	+	6	2915	c.2552C>T	c.(2551-2553)tCg>tTg	p.S851L	EPB41L1_uc002xeu.3_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.3_Missense_Mutation_p.S752L|EPB41L1_uc002xew.3_Missense_Mutation_p.S644L|EPB41L1_uc002xex.3_Missense_Mutation_p.S573L|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Intron|EPB41L1_uc002xfb.3_Missense_Mutation_p.S753L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	753	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGACCATATCGACCACCATG	0.572000														21			8		0	0	0.335167	0	0
JARID2	3720	broad.mit.edu	37	6	15496653	15496653	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:15496653C>T	uc003nbj.3	+	6	1441	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	JARID2_uc011diu.1_Silent_p.S263S|JARID2_uc011div.2_Silent_p.S227S|JARID2_uc011diw.1_Silent_p.S361S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	399					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGTCCAAGTCCACTGGGCCCG	0.602000														79			58		0	0	0.870114	0	0
TOP3A	7156	broad.mit.edu	37	17	18183895	18183895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:18183895C>T	uc002gsx.1	-	16	2328	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	TOP3A_uc010cpz.1_Missense_Mutation_p.R152K|TOP3A_uc010vxr.1_Missense_Mutation_p.R230K|TOP3A_uc002gsw.1_Missense_Mutation_p.R152K|TOP3A_uc010vxs.1_Missense_Mutation_p.R598K	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	700					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						ACTGCTGTCCCTGCTGGCCTC	0.582000														30			6		0	0	0.278610	0	0
CLPB	81570	broad.mit.edu	37	11	72004437	72004437	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:72004437G>C	uc001osj.3	-	16	2148	c.2098C>G	c.(2098-2100)Cct>Gct	p.P700A	CLPB_uc010rqx.2_Missense_Mutation_p.P655A|CLPB_uc010rqy.2_Missense_Mutation_p.P641A|CLPB_uc001osk.3_Missense_Mutation_p.P670A|CLPB_uc010rqz.2_Missense_Mutation_p.P499A|CLPB_uc001osi.3_Missense_Mutation_p.P308A	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	700					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ACCTTCTCAGGGTGCAGTGGT	0.592000														16			28		0	0	0.740014	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129151	150129151	+	Missense_Mutation	SNP	C	T	T	rs141386276		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:150129151C>T	uc001ett.3	+	3	643	c.365C>T	c.(364-366)tCg>tTg	p.S122L	PLEKHO1_uc001ets.3_5'UTR|PLEKHO1_uc001etu.3_5'UTR|PLEKHO1_uc021oyc.1_5'Flank	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	122	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGAAGGAATCGTGGATCAAT	0.567000														28			88		0	0	0.870114	0	0
PTPRK	5796	broad.mit.edu	37	6	128505788	128505788	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:128505788G>A	uc003qbk.3	-	6	1318	c.951C>T	c.(949-951)atC>atT	p.I317I	PTPRK_uc010kfc.3_Silent_p.I317I|PTPRK_uc003qbj.3_Silent_p.I317I|PTPRK_uc011ebu.2_Silent_p.I317I|PTPRK_uc003qbl.1_Silent_p.I187I|PTPRK_uc011ebv.1_Silent_p.I317I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	317	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S316*(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATCGCCAATGATCGAGTTGG	0.463000														70			36		0	0	0.769981	0	0
CAP2	10486	broad.mit.edu	37	6	17463250	17463250	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:17463250C>T	uc003ncb.3	+	3	489	c.246C>T	c.(244-246)ttC>ttT	p.F82F	CAP2_uc010jpk.1_Intron|CAP2_uc011dja.2_Intron|CAP2_uc011djb.2_Silent_p.F82F|CAP2_uc011djc.2_Silent_p.F82F|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	82					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGTGCTTTCCAGGCCCAGC	0.502000														67			10		0	0	0.457914	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660861	35660861	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:35660861C>T	uc003anl.3	+	4	654	c.480C>T	c.(478-480)ccC>ccT	p.P160P	HMGXB4_uc011amh.1_Silent_p.P51P|HMGXB4_uc003ank.3_Silent_p.P51P	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	160					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGAACTACCCCTAGAGGATG	0.473000														26			20		0	0	0.592651	0	0
COL6A3	1293	broad.mit.edu	37	2	238271994	238271994	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:238271994C>T	uc002vwl.2	-	13	6250	c.5965G>A	c.(5965-5967)Gag>Aag	p.E1989K	COL6A3_uc002vwo.2_Missense_Mutation_p.E1783K|COL6A3_uc010znj.1_Missense_Mutation_p.E1382K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1989	Nonhelical region.|VWFA 10.				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)		ATTAGCCGCTCCAAGTTGACC	0.498000														24			25		0	0	0.681144	0	0
SAFB	6294	broad.mit.edu	37	19	5667859	5667859	+	Silent	SNP	C	A	A	rs141149674	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:5667859C>A	uc002mcg.3	+	19	2757	c.2586C>A	c.(2584-2586)tcC>tcA	p.S862S	SAFB_uc002mcf.3_Silent_p.S860S|SAFB_uc002mce.4_Silent_p.S861S|SAFB_uc010xis.2_Silent_p.S793S|SAFB_uc010xit.2_Silent_p.S704S|SAFB_uc010xir.2_Silent_p.S859S|SAFB_uc010xiu.2_Silent_p.S661S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	860	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCGGTCACTCCGGGCCTGGCC	0.607000														51			10		0.00185496	0.00185988	0.435327	1	0
ABCB5	340273	broad.mit.edu	37	7	20687681	20687681	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:20687681C>T	uc010kuh.3	+	10	1423	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	580	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTCAATTATCCATCAAGACC	0.338000														3			12		0	0	0.479597	0	0
ZNF711	7552	broad.mit.edu	37	X	84526218	84526218	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:84526218G>A	uc004eeq.3	+	9	2694	c.1808G>A	c.(1807-1809)gGt>gAt	p.G603D	ZNF711_uc004eep.3_Missense_Mutation_p.G557D|ZNF711_uc004eeo.3_Missense_Mutation_p.G557D|ZNF711_uc011mqy.1_Missense_Mutation_p.G156D	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	557					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						TCTAAACATGGTAACAATTTG	0.398000														8			6		0	0	0.278610	0	0
DNAH5	1767	broad.mit.edu	37	5	13769652	13769652	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:13769652C>T	uc003jfd.2	-	56	9720	c.9678G>A	c.(9676-9678)gcG>gcA	p.A3226A	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3226	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3225D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTCTTTCGCTTCCAGTT	0.433000									Kartagener syndrome					43			24		0	0	0.750413	0	0
EPHA7	2045	broad.mit.edu	37	6	94120594	94120594	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:94120594C>T	uc003poe.3	-	2	698	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	EPHA7_uc003pof.3_Missense_Mutation_p.E153K|EPHA7_uc011eac.2_Missense_Mutation_p.E153K|EPHA7_uc003pog.4_Missense_Mutation_p.E153K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	153						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)		GTAAAACTTTCATCTGCAGCA	0.373000														31			17		0	0	0.575678	0	0
VWA3A	146177	broad.mit.edu	37	16	22149750	22149750	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:22149750G>A	uc010vbq.2	+	21	2305	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.E745K	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	737						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTCCCGAAAGAAAAACCAAA	0.567000														3			4		0	0	0.217242	0	0
XKR3	150165	broad.mit.edu	37	22	17288891	17288891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:17288891G>A	uc002zlv.3	-	1	171	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	XKR3_uc011agf.2_Missense_Mutation_p.L25F	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	25						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCTGGCCAAGGACTATTTCT	0.403000														62			39		0	0	0.870114	0	0
TCF4	6925	broad.mit.edu	37	18	53128337	53128337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:53128337C>T	uc002lga.3	-	5	583	c.523G>A	c.(523-525)Gat>Aat	p.D175N	TCF4_uc002lfy.2_Missense_Mutation_p.D31N|TCF4_uc010xdx.1_Missense_Mutation_p.D49N|TCF4_uc021ukj.1_Missense_Mutation_p.D73N|TCF4_uc021ukk.1_Missense_Mutation_p.D73N|TCF4_uc021ukl.1_Missense_Mutation_p.D71N|TCF4_uc002lfz.2_Missense_Mutation_p.D73N|TCF4_uc010dph.1_Missense_Mutation_p.D73N|TCF4_uc010dpi.3_Missense_Mutation_p.D73N|TCF4_uc010xdy.1_Missense_Mutation_p.D49N|TCF4_uc002lgc.4_5'UTR	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	73					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)		GGAGTCCCATCTCCATAGTTC	0.388000														14			10		0	0	0.335167	0	0
PARK2	5071	broad.mit.edu	37	6	161781175	161781175	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:161781175G>A	uc021zhu.1	-	11	1462	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_Silent_p.T219T|PARK2_uc003qtx.4_Silent_p.T410T|PARK2_uc021zhs.1_Silent_p.T332T|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.T382T|PARK2_uc003qtz.4_Silent_p.T261T|PARK2_uc021zhv.1_Silent_p.T331T|PARK2_uc021zhw.1_Silent_p.T219T|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.T360T|PARK2_uc011egf.2_Silent_p.T84T	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	410					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTTTCTTGATGGTTTCTTTGG	0.517000														46			28		0	0	0.729181	0	0
LRP1B	53353	broad.mit.edu	37	2	141072531	141072531	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:141072531C>T	uc002tvj.1	-	82	13750	c.12778G>A	c.(12778-12780)Gga>Aga	p.G4260R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4260	EGF-like 11.				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)		CAAGTTCCTCCATTCTGGCAG	0.363000										TSP Lung(27;0.18)				53			14		0	0	0.539581	0	0
RGAG1	57529	broad.mit.edu	37	X	109696473	109696473	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:109696473G>A	uc004eor.2	+	2	2874	c.2628G>A	c.(2626-2628)atG>atA	p.M876I	RGAG1_uc011msr.1_Missense_Mutation_p.M876I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	876										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CATCACAAATGATGCCCACAG	0.547000														89			11		0	0	0.411799	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302295	128302295	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:128302295C>T	uc003kuy.3	+	1	861	c.465C>T	c.(463-465)gcC>gcT	p.A155A	SLC27A6_uc003kuz.3_Silent_p.A155A	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	155					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)		GGCCCAGAGCCCTAGTGGTGG	0.552000														6			12		0	0	0.539581	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123646767	123646767	+	Splice_Site	SNP	T	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:123646767T>A	uc001uel.3	-	17	2682	c.2574_splice	c.e17-1	p.R858_splice	MPHOSPH9_uc010tal.2_Splice_Site_p.R312_splice|MPHOSPH9_uc010tam.2_Intron|MPHOSPH9_uc001uem.3_Splice_Site_p.R312_splice	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	858					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATATCAAATCTATTGAATGAA	0.353000														33			16		0	0	0.557998	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993689	91993689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:91993689G>A	uc004aqo.1	-	17	3091	c.2519C>T	c.(2518-2520)tCt>tTt	p.S840F	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S840F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	840					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GTCCCTGGCAGAAAGGTCGTC	0.602000														10			25		0	0	0.681144	0	0
FBXL13	222235	broad.mit.edu	37	7	102524023	102524023	+	Missense_Mutation	SNP	C	T	T	rs137980271		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:102524023C>T	uc003vaq.2	-	12	1644	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.R406Q|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R406Q	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	406										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ACCTTCAAATCGGATCTTTCT	0.353000														25			24		0	0	0.717897	0	0
IGF2R	3482	broad.mit.edu	37	6	160485503	160485503	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:160485503C>T	uc003qta.3	+	27	4105	c.3957C>T	c.(3955-3957)tgC>tgT	p.C1319C		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1319					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GGGACACTTGCCATAAGGTTT	0.512000														55			40		0	0	0.864702	0	0
WFDC8	90199	broad.mit.edu	37	20	44187613	44187613	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:44187613G>A	uc002xow.3	-	2	234	c.155C>T	c.(154-156)cCc>cTc	p.P52L	WFDC8_uc002xox.3_Missense_Mutation_p.P52L	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	52	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CCTCTCTTTGGGACATAACCC	0.428000														107			29		0	0	0.819951	0	0
DNAH10	196385	broad.mit.edu	37	12	124330279	124330279	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:124330279G>A	uc001uft.4	+	29	5164	c.5139G>A	c.(5137-5139)agG>agA	p.R1713R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1713	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)		ACTATGGCAGGAAAATGCACC	0.517000														15			8		0	0	0.307466	0	0
DNMBP	23268	broad.mit.edu	37	10	101639994	101639994	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:101639994G>A	uc001kqj.2	-	15	4214	c.4122C>T	c.(4120-4122)ttC>ttT	p.F1374F	DNMBP_uc010qpl.1_Silent_p.F310F|DNMBP_uc001kqg.2_Silent_p.F662F|DNMBP_uc001kqh.2_Silent_p.F1006F	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1374	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding	p.F1374L(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTGGCGTGGGAACCTGGGGG	0.607000														15			29		0	0	0.779181	0	0
DUOX2	50506	broad.mit.edu	37	15	45398521	45398521	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:45398521C>T	uc001zun.3	-	16	2153	c.1950G>A	c.(1948-1950)atG>atA	p.M650I	DUOX2_uc010bea.3_Missense_Mutation_p.M650I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	650					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)		CTGGCCACTCCATCGCTGGGG	0.592000														37			15		0	0	0.539581	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914450	39914450	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:39914450C>T	uc010xuz.2	+	18	3002	c.2677C>T	c.(2677-2679)Ctg>Ttg	p.L893L	PLEKHG2_uc010xuy.2_Silent_p.L834L|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.L671L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	893					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCTGTCCCCCTGGGTCCTGC	0.567000														18			32		0	0	0.769981	0	0
RNF207	388591	broad.mit.edu	37	1	6273205	6273205	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:6273205C>T	uc001amg.3	+	15	1788	c.1614C>T	c.(1612-1614)gtC>gtT	p.V538V	RNF207_uc010nzp.1_Non-coding_Transcript	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	538						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGCCCTACGTCCGCTCCATTG	0.627000														9			28		0	0	0.760397	0	0
C1orf168	199920	broad.mit.edu	37	1	57258315	57258315	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:57258315G>A	uc001cym.4	-	1	577	c.171C>T	c.(169-171)tcC>tcT	p.S57S	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.S57S	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	57										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						GCTTGTGGTTGGATGAGAGGG	0.458000														29			69		0	0	0.870114	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408083	107408083	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:107408083C>T	uc003ver.2	-	19	2423	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	SLC26A3_uc003ves.2_Missense_Mutation_p.D625N	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	738					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTTTTCCATCTTTTTCCTGA	0.333000														14			15		0	0	0.479597	0	0
USH2A	7399	broad.mit.edu	37	1	216166467	216166467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:216166467C>T	uc001hku.1	-	34	7087	c.6700G>A	c.(6700-6702)Gcc>Acc	p.A2234T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2234	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E2233K(1)|p.E2233*(1)		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)		TCAGTTAGGGCCTCACTGGCC	0.507000										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			73		0	0	0.870114	0	0
RRP9	9136	broad.mit.edu	37	3	51967557	51967557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:51967557G>A	uc003dbw.1	-	14	1432	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	465					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGGACCCTGCGGAGTGGGATG	0.552000														47			26		0	0	0.740014	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418934	138418934	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:138418934G>A	uc003vuf.3	-	14	1876	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	ATP6V0A4_uc003vug.3_Silent_p.I546I|ATP6V0A4_uc003vuh.3_Silent_p.I546I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	546					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAATTCCCAGGATCACCGACA	0.428000														25			20		0	0	0.624587	0	0
DICER1	23405	broad.mit.edu	37	14	95574384	95574384	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:95574384G>A	uc001ydw.2	-	16	2695	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	DICER1_uc010avh.1_5'Flank|DICER1_uc021sbc.1_Missense_Mutation_p.S828F|DICER1_uc001ydv.2_Missense_Mutation_p.S818F|DICER1_uc001ydx.2_Missense_Mutation_p.S828F|DICER1_uc021sbd.1_Missense_Mutation_p.S110F	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	828					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAACTCAATGGATATGGTAAC	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					7			24		0	0	0.681144	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996047	140996047	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:140996047G>A	uc004fbt.3	+	3	3181	c.2857G>A	c.(2857-2859)Gcc>Acc	p.A953T	MAGEC1_uc010nsl.2_Missense_Mutation_p.A20T|MAGEC1_uc022cfi.1_Missense_Mutation_p.A612T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	953	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)					CTTCAGGAAAGCCCGTGAGTT	0.463000										HNSCC(15;0.026)				25			34		0	0	0.804634	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789911	6789911	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:6789911G>A	uc001meq.1	-	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTCCAAAGGAGATAGTGTT	0.537000														10			36		0	0	0.812448	0	0
KCNH1	3756	broad.mit.edu	37	1	210857382	210857382	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:210857382G>A	uc001hib.2	-	10	2381	c.2211C>T	c.(2209-2211)gtC>gtT	p.V737V	KCNH1_uc001hic.2_Silent_p.V710V	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	737	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGAGGCGCCGGACAGGGTGGT	0.577000														7			25		0	0	0.740014	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	A	A	rs112098339		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000														18			6		5.4927e-09	5.53664e-09	0.307466	1	0
CGNL1	84952	broad.mit.edu	37	15	57730212	57730212	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:57730212C>T	uc010bfw.3	+	2	208	c.15C>T	c.(13-15)ttC>ttT	p.F5F	CGNL1_uc002aeg.3_Silent_p.F5F	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	5	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCTGTATTTCGGTGAATATC	0.438000														167			148		0	0	0.870114	0	0
PLCB2	5330	broad.mit.edu	37	15	40580978	40580978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:40580978G>A	uc001zld.3	-	31	3797	c.3496C>T	c.(3496-3498)Cca>Tca	p.P1166S	PLCB2_uc001zlc.3_Missense_Mutation_p.P150S|PLCB2_uc010bbo.3_Missense_Mutation_p.P1162S|PLCB2_uc010ucm.2_Missense_Mutation_p.P1151S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1166					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CACAGCTCTGGGGGGCACTCG	0.627000														35			15		0	0	0.520397	0	0
PKD1	5310	broad.mit.edu	37	16	2168023	2168023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:2168023G>A	uc002cos.1	-	4	1179	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R324C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	324	PKD 1.		R -> L (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCACATAGCGATGCGAGGCA	0.706000														0			5		0	0	0.278610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310800	61310800	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:61310800G>A	uc002ljf.3	-	1	98	c.12C>T	c.(10-12)ctC>ctT	p.L4L	SERPINB3_uc002lje.3_Silent_p.L4L|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	4					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						TGGCTTCACTGAGTGAATTCA	0.388000														91			53		0	0	0.870114	0	0
PTPRK	5796	broad.mit.edu	37	6	128304508	128304508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:128304508C>T	uc003qbk.3	-	22	3630	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	PTPRK_uc010kfc.3_Missense_Mutation_p.R1095Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1089Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1111Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1088	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCAGCCAGTTCGTCCAGCACC	0.383000														36			13		0	0	0.479597	0	0
XKR9	389668	broad.mit.edu	37	8	71646559	71646559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:71646559G>A	uc003xyq.3	+	4	1556	c.1022G>A	c.(1021-1023)gGg>gAg	p.G341E	XKR9_uc010lzd.3_Missense_Mutation_p.G209E|XKR9_uc010lze.3_Missense_Mutation_p.G341E	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	341						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)			GTTTATTATGGGAGTTTTCAC	0.313000														13			6		0	0	0.248553	0	0
ZNF80	7634	broad.mit.edu	37	3	113955275	113955276	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:113955275_113955276GG>TT	uc010hqo.3	-	0	1150_1151	c.646_647CC>AA	c.(646-648)ccc>AAc	p.P216N	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GCACTCGTAGGGCTTTCCTGCA	0.490000														59			31		0	0	0.115264	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111075	7111075	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:7111075G>A	uc001mfc.2	+	0	911	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	242	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCCACCGCGATTACGGCCA	0.657000														5			13		0	0	0.520397	0	0
CORIN	10699	broad.mit.edu	37	4	47676496	47676496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:47676496C>T	uc003gxm.3	-	9	1364	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	CORIN_uc011bzf.2_Missense_Mutation_p.G285E|CORIN_uc011bzg.2_Missense_Mutation_p.G357E|CORIN_uc011bzh.1_Missense_Mutation_p.G387E|CORIN_uc011bzi.1_Missense_Mutation_p.G387E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	424					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						TCTTTGGTCTCCTTCTTGACA	0.433000														15			45		0	0	0.870114	0	0
TLR5	7100	broad.mit.edu	37	1	223283825	223283825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:223283825G>A	uc021pjl.1	-	0	2549	c.2549C>T	c.(2548-2550)cCg>cTg	p.P850L	TLR5_uc001hnv.2_Missense_Mutation_p.P850L|TLR5_uc001hnw.2_Missense_Mutation_p.P850L	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	850			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		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)		AGTTTGCAACGGAATGTTATT	0.373000														18			39		0	0	0.870114	0	0
DMC1	11144	broad.mit.edu	37	22	38934315	38934315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:38934315G>A	uc003avz.1	-	10	935	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	DMC1_uc011anv.1_Nonsense_Mutation_p.Q199*	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	254					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GAGATTTTTTGGAGTCGTGAC	0.413000								Homologous recombination						36			20		0	0	0.693898	0	0
RAI1	10743	broad.mit.edu	37	17	17700963	17700963	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:17700963C>T	uc002grm.3	+	2	5170	c.4701C>T	c.(4699-4701)ccC>ccT	p.P1567P	RAI1_uc002grn.1_Silent_p.P1567P	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1567						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGTGCTGCCCCTGGATCCCG	0.637000														46			13		0	0	0.457914	0	0
ANK3	288	broad.mit.edu	37	10	61830238	61830238	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:61830238G>A	uc001jky.3	-	36	10739	c.10401C>T	c.(10399-10401)atC>atT	p.I3467I	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.	3467					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						CCTCCTCCTCGATAACTTCAA	0.458000														17			31		0	0	0.827153	0	0
PDE3A	5139	broad.mit.edu	37	12	20786684	20786684	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:20786684G>A	uc001reh.2	+	6	1858	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	PDE3A_uc021qwa.1_Silent_p.G284G	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	606					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGAGAAGTGGGGTAGCCACTC	0.433000														20			15		0	0	0.592651	0	0
SPAG17	200162	broad.mit.edu	37	1	118598459	118598459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:118598459C>T	uc001ehk.2	-	18	2687	c.2619G>A	c.(2617-2619)atG>atA	p.M873I	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	873						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)		TTTTCTCATTCATTTTAGATT	0.328000														10			29		0	0	0.706142	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059343	152059343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:152059343G>A	uc001ezo.1	-	2	880	c.815C>T	c.(814-816)cCa>cTa	p.P272L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	272							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATCTTCACATGGTCTTTGTGT	0.433000														21			77		0	0	0.870114	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934839	9934839	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:9934839T>A	uc010uym.2	-	6	1761	c.1451A>T	c.(1450-1452)aAg>aTg	p.K484M	GRIN2A_uc002czo.4_Missense_Mutation_p.K484M|GRIN2A_uc010uyn.2_Missense_Mutation_p.K327M|GRIN2A_uc002czr.4_Missense_Mutation_p.K484M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	484					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)	CTTGCCATGCTTCCCATTGGT	0.433000														35			64		0	0	0.870114	0	0
MYH2	4620	broad.mit.edu	37	17	10438617	10438617	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:10438617G>A	uc010coi.3	-	17	2168	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I680I|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.	680	Actin-binding (By similarity).|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						TCTCATTGGGGATGATACACC	0.413000														21			6		0	0	0.248553	0	0
HDHD2	84064	broad.mit.edu	37	18	44635148	44635148	+	Nonsense_Mutation	SNP	G	A	A	rs141476363	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:44635148G>A	uc002lcs.3	-	6	818	c.685C>T	c.(685-687)Cga>Tga	p.R229*	HDHD2_uc002lct.3_Nonsense_Mutation_p.R139*	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	229							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TCTGATGCTCGATATTTCCCT	0.443000														15			11		0	0	0.411799	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457496	21457496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:21457496C>T	uc001rer.3	-	4	705	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E20K|SLCO1A2_uc001res.3_Missense_Mutation_p.E152K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E20K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E20K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E150K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E132K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	152					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.E152Q(2)|p.E152K(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GATTTAACTTCCTTTGTACAC	0.358000														49			14		0	0	0.575678	0	0
FGF14	2259	broad.mit.edu	37	13	102379096	102379096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:102379096G>A	uc001vpf.2	-	3	584	c.488C>T	c.(487-489)tCa>tTa	p.S163L	FGF14_uc001vpe.2_Missense_Mutation_p.S158L	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	158					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAACATGGATGAGTAGATTAC	0.358000														11			12		0	0	0.435327	0	0
MYO1F	4542	broad.mit.edu	37	19	8606866	8606866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:8606866C>T	uc002mkg.3	-	14	1672	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	512	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.D512N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCGCTGACGTCGTAGGAGACC	0.612000														29			6		0	0	0.217242	0	0
DDX31	64794	broad.mit.edu	37	9	135545422	135545422	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:135545422C>T	uc004cbq.1	-	0	367	c.215G>A	c.(214-216)aGg>aAg	p.R72K	DDX31_uc010mzu.1_Missense_Mutation_p.R72K|DDX31_uc004cbr.1_Missense_Mutation_p.R72K|DDX31_uc004cbs.2_Missense_Mutation_p.R72K|GTF3C4_uc010mzv.3_5'Flank|GTF3C4_uc010mzw.3_5'Flank	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	72						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCCACCGCCCCTTCCGGGTCC	0.756000														0			3		0	0	0.150653	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555079	44555079	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:44555079C>T	uc010xdb.2	-	0	1371	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	379	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTGTCTTTCTCTGTGCGGTAC	0.557000														709			17		0	0	0.575678	0	0
SMARCA2	6595	broad.mit.edu	37	9	2086993	2086993	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:2086993C>T	uc003zhc.3	+	17	2790	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	SMARCA2_uc003zhd.3_Silent_p.F897F|SMARCA2_uc010mha.3_Intron	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.	897	Helicase ATP-binding.				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)		TCCTCAACTTCCTCCTCCCAA	0.498000														20			29		0	0	0.729181	0	0
RNF165	494470	broad.mit.edu	37	18	44030274	44030274	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:44030274C>T	uc002lcb.1	+	4	682	c.631C>T	c.(631-633)Cga>Tga	p.R211*	RNF165_uc002lby.1_Nonsense_Mutation_p.R144*|RNF165_uc010dnn.1_Nonsense_Mutation_p.R7*	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	211							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCATGAAATCCGAAACTACCC	0.517000														30			16		0	0	0.592651	0	0
CPAMD8	27151	broad.mit.edu	37	19	17068694	17068694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:17068694C>T	uc002nfb.3	-	18	2418	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	749						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						ATCCATGTTTCGGGGAAGAAA	0.393000														67			86		0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179457996	179457996	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:179457996C>T	uc021vsy.1	-	247	51460	c.51235G>A	c.(51235-51237)Gga>Aga	p.G17079R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G10774R|TTN_uc021vta.1_Missense_Mutation_p.G10707R|TTN_uc021vtb.1_Missense_Mutation_p.G10582R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18006	Ig-like 102.						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)			TACTGACATCCTTCTAGAAGA	0.398000														41			28		0	0	0.717897	0	0
FAM183B	340286	broad.mit.edu	37	7	38725602	38725602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:38725602C>T	uc011kbd.2	-	1	991	c.695G>A	c.(694-696)gGc>gAc	p.G232D						Homo sapiens family with sequence similarity 183, member B (FAM183B), non-coding RNA.											endometrium(1)|lung(7)	8						GGGTGTCCCGCCATAGCCTTG	0.602000														10			19		0	0	0.639603	0	0
MLIP	90523	broad.mit.edu	37	6	53989510	53989510	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:53989510G>A	uc011dxa.2	+	2	525	c.492G>A	c.(490-492)ggG>ggA	p.G164G	MLIP_uc003pcf.2_Silent_p.G153G|MLIP_uc003pcg.4_Silent_p.G153G|MLIP_uc003pch.4_Silent_p.G91G|MLIP_uc011dwz.1_Silent_p.G112G	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	153						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						CCCCAGGGGGGATTGGCACCG	0.532000														40			14		0	0	0.575678	0	0
TECPR1	25851	broad.mit.edu	37	7	97874278	97874278	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:97874278C>T	uc003upg.3	-	3	532	c.327G>A	c.(325-327)gtG>gtA	p.V109V	TECPR1_uc003uph.1_Silent_p.V30V	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	109						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGGCAGTGCCACCCTGTCCA	0.622000														29			20		0	0	0.654019	0	0
ERBB2	2064	broad.mit.edu	37	17	37864760	37864760	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:37864760C>T	uc002hso.3	+	2	650	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ERBB2_uc010cwa.3_Missense_Mutation_p.R123W|ERBB2_uc002hsm.3_Missense_Mutation_p.R108W|ERBB2_uc002hsp.3_5'UTR|ERBB2_uc010cwb.3_Missense_Mutation_p.R138W|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.R108W|ERBB2_uc002hsn.1_Missense_Mutation_p.R138W	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	138					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGAGGCCTGCGGGAGCTGCA	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				28			15		0	0	0.539581	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000														33			29		0	0	0.769981	0	0
CACNA1E	777	broad.mit.edu	37	1	181740455	181740455	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:181740455G>A	uc009wxt.3	+	35	5103	c.4908G>A	c.(4906-4908)gaG>gaA	p.E1636E	CACNA1E_uc001gow.3_Silent_p.E1636E|CACNA1E_uc009wxs.3_Silent_p.E1617E|CACNA1E_uc001gox.1_Silent_p.E862E|5S_rRNA_uc021pft.1_5'Flank	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1636					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1636K(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						AATTAGACGAGGAGAGTCACA	0.463000														2			5		0	0	0.307466	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612813	16612813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:16612813C>T	uc002gqk.1	+	4	1518	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	481																	TCTTTACCACCAGATTCTGAC	0.338000														11			13		0	0	0.457914	0	0
KRT6C	286887	broad.mit.edu	37	12	52867474	52867474	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:52867474C>T	uc001sal.4	-	0	96	c.48G>A	c.(46-48)cgG>cgA	p.R16R		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	16	Head.				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)		CACTGAAACCCCGGCGGCTGC	0.667000														22			7		0	0	0.307466	0	0
C15orf42	90381	broad.mit.edu	37	15	90119080	90119080	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:90119080C>T	uc002boe.3	+	0	263	c.263C>T	c.(262-264)gCc>gTc	p.A88V	C15orf42_uc021sug.1_Missense_Mutation_p.A88V	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	88					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGGATCGCGCCCACCTGCCC	0.731000														5			6		0	0	0.307466	0	0
RALYL	138046	broad.mit.edu	37	8	85441693	85441693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:85441693G>A	uc003yct.4	+	1	310	c.176G>A	c.(175-177)gGa>gAa	p.G59E	RALYL_uc003ycq.4_Missense_Mutation_p.G46E|RALYL_uc003ycr.4_Missense_Mutation_p.G46E|RALYL_uc003ycs.4_Missense_Mutation_p.G46E|RALYL_uc010lzy.3_Missense_Mutation_p.G46E	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	46	RRM.						RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCAAAGTATGGAAAAATAGTT	0.418000														12			10		0	0	0.411799	0	0
YEATS2	55689	broad.mit.edu	37	3	183495355	183495355	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:183495355C>T	uc003fly.2	+	18	2798	c.2603C>T	c.(2602-2604)tCa>tTa	p.S868L	YEATS2_uc003flz.3_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	868					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGCCAGCCATCACCCCAGACT	0.423000														31			29		0	0	0.819951	0	0
MUC16	94025	broad.mit.edu	37	19	9086687	9086687	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9086687C>T	uc002mkp.3	-	0	5332	c.5128G>A	c.(5128-5130)Gaa>Aaa	p.E1710K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1710	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						GTGACTCCTTCAGTAGTTGAC	0.488000														24			50		0	0	0.870114	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														18			5		0	0	0.248553	0	0
DNAH17	8632	broad.mit.edu	37	17	76548870	76548870	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:76548870C>T	uc010dhp.2	-	14	2321	c.2196G>A	c.(2194-2196)aaG>aaA	p.K732K	DNAH17_uc002jvv.2_Silent_p.K434K	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)			ATTCTACTGCCTTCACTATAG	0.393000														88			18		0	0	0.539581	0	0
POTEE	445582	broad.mit.edu	37	2	132021858	132021858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:132021858G>A	uc002tsn.2	+	14	2882	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.D544N|POTEE_uc002tsl.2_Missense_Mutation_p.D526N|POTEE_uc010fmy.1_Missense_Mutation_p.D408N	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	944	Actin-like.						ATP binding										CGAGCTGCCCGATGGCCAGGT	0.602000														118			10		0	0	0.435327	0	0
IFFO1	25900	broad.mit.edu	37	12	6665123	6665123	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:6665123C>T	uc010sfe.2	-	0	127	c.73G>A	c.(73-75)Gac>Aac	p.D25N	IFFO1_uc001qpc.2_Missense_Mutation_p.D25N|IFFO1_uc001qpf.2_Missense_Mutation_p.D25N|IFFO1_uc001qpe.2_Non-coding_Transcript	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	25						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCAGTGAGTCCCCCAGTGGC	0.716000														4			5		0	0	0.217242	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036398	21036398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:21036398G>A	uc010sil.2	+	10	1609	c.1544G>A	c.(1543-1545)aGa>aAa	p.R515K	SLCO1B3_uc001rek.3_Missense_Mutation_p.R515K|SLCO1B3_uc001rel.3_Missense_Mutation_p.R515K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	515					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTCCAGAACAGAAATTACTCA	0.333000														33			30		0	0	0.804634	0	0
SLC41A3	54946	broad.mit.edu	37	3	125752456	125752456	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:125752456G>A	uc003eij.3	-	3	673	c.447C>T	c.(445-447)ctC>ctT	p.L149L	SLC41A3_uc003eii.3_Silent_p.L123L|SLC41A3_uc003eil.3_Silent_p.L149L|SLC41A3_uc003eik.3_Silent_p.L113L|SLC41A3_uc011bkh.2_Silent_p.L32L|SLC41A3_uc010hsd.1_Silent_p.L164L	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	149						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCACCTGGATGAGGGCCAGGT	0.557000														16			8		0	0	0.387290	0	0
C5	727	broad.mit.edu	37	9	123779744	123779744	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:123779744C>T	uc004bkv.3	-	13	1792	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	C5_uc010mvm.1_Missense_Mutation_p.V588M|C5_uc010mvn.1_Missense_Mutation_p.V588M	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	588					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTAAGAGACACAGTTTGGCCT	0.423000														10			21		0	0	0.654019	0	0
MUC16	94025	broad.mit.edu	37	19	9082794	9082794	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9082794G>A	uc002mkp.3	-	0	9225	c.9021C>T	c.(9019-9021)acC>acT	p.T3007T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3008	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						ATGCAAGAGAGGTCGATGTCA	0.488000														56			7		0	0	0.307466	0	0
TNS4	84951	broad.mit.edu	37	17	38640799	38640799	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:38640799G>A	uc010cxb.3	-	5	1602	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	480	SH2.				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)			AAGGAGCCTCGGTATGAAGAG	0.582000														11			5		0	0	0.248553	0	0
BTK	695	broad.mit.edu	37	X	100626636	100626636	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:100626636G>A	uc010nno.2	-	3	629	c.396C>T	c.(394-396)ttC>ttT	p.F132F	BTK_uc004ehg.2_Silent_p.F98F|BTK_uc010nnn.2_Silent_p.F98F|BTK_uc004ehi.3_Silent_p.F98F	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	98	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.V131I(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGGATAAGGGAACCTTTCAA	0.433000									Agammaglobulinemia, X-linked					23			35		0	0	0.864702	0	0
ERCC4	2072	broad.mit.edu	37	16	14014015	14014015	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:14014015G>A	uc002dce.2	+	1	1	c.-8_splice	c.e1-1		ERCC4_uc010bva.3_Splice_Site	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.						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						CGACCCGGAAGAGCTTCCATG	0.647000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum		OREG0023622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			24		0	0	0.740014	0	0
POF1B	79983	broad.mit.edu	37	X	84537226	84537226	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:84537226C>T	uc004eer.2	-	15	1893	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	POF1B_uc004ees.3_Missense_Mutation_p.E583K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	583							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						TATTTGTCTTCTGTTTTCTCA	0.358000														23			5		0	0	0.307466	0	0
ITGB8	3696	broad.mit.edu	37	7	20406796	20406796	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:20406796C>T	uc003suu.3	+	2	1080	c.375C>T	c.(373-375)atC>atT	p.I125I	ITGB8_uc011jyh.2_5'UTR|ITGB8_uc003sut.3_Silent_p.I125I	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	125					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAGTGTCTATCCAGCTGCGTC	0.343000														24			46		0	0	0.870114	0	0
WLS	79971	broad.mit.edu	37	1	68659877	68659877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:68659877G>A	uc001dee.3	-	1	436	c.134C>T	c.(133-135)tCg>tTg	p.S45L	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Missense_Mutation_p.S47L|WLS_uc001deg.2_Intron|WLS_uc001deh.2_Missense_Mutation_p.S47L|WLS_uc009wbf.1_Missense_Mutation_p.S2L|WLS_uc021oor.1_Missense_Mutation_p.S2L	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	47					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ACATTTCACCGACATGTAGGA	0.443000														10			17		0	0	0.624587	0	0
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:130877893G>A	uc010fmh.2	-	2	596	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	66						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						AAGCAGTGGCGGCACCACTTG	0.602000														200			7		0	0	0.278610	0	0
GRIK5	2901	broad.mit.edu	37	19	42507571	42507571	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:42507571G>A	uc002osj.1	-	17	2462	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	GRIK5_uc002osi.1_Silent_p.I381I	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	809						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGATGAGCACGATAAAAATGC	0.587000														52			9		0	0	0.307466	0	0
FOXI1	2299	broad.mit.edu	37	5	169535120	169535120	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:169535120G>A	uc003mai.4	+	1	687	c.642G>A	c.(640-642)agG>agA	p.R214R	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	214					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.R214R(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTTCCGCAGGAAAAGGAAGA	0.493000									Pendred syndrome					11			24		0	0	0.693898	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4442750	4442750	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:4442750G>A	uc002fxz.4	-	25	4009	c.3947C>T	c.(3946-3948)gCc>gTc	p.A1316V	MYBBP1A_uc002fyb.4_Missense_Mutation_p.A1316V|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Missense_Mutation_p.A261V|MYBBP1A_uc010vsa.2_Missense_Mutation_p.A358V	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1316	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TTTCTTCTTGGCCCCACTCTG	0.577000														59			69		0	0	0.870114	0	0
KCNV1	27012	broad.mit.edu	37	8	110980337	110980337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:110980337C>T	uc003ynr.4	-	2	2287	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	KCNV1_uc010mcw.3_Missense_Mutation_p.G495R	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	495						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.G494R(1)|p.G494W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AAATCATCTCCCCCGCTGCTC	0.373000														20			14		0	0	0.520397	0	0
ZNF711	7552	broad.mit.edu	37	X	84526097	84526097	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:84526097C>T	uc004eeq.3	+	9	2573	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	ZNF711_uc004eep.3_Missense_Mutation_p.P517S|ZNF711_uc004eeo.3_Missense_Mutation_p.P517S|ZNF711_uc011mqy.1_Missense_Mutation_p.P116S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	517					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						TTTTCGACATCCTTCTGAACT	0.408000														19			16		0	0	0.592651	0	0
CNTN1	1272	broad.mit.edu	37	12	41421717	41421717	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:41421717C>T	uc001rmm.1	+	21	2882	c.2769C>T	c.(2767-2769)atC>atT	p.I923I	CNTN1_uc001rmn.1_Silent_p.I912I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	923	Fibronectin type-III 4.				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)				GCTATATAATCACCTGGGATC	0.388000														69			20		0	0	0.706142	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		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)		GGGCAAATTTCGTCCAACCTT	0.388000														11			28		0	0	0.717897	0	0
FAT3	120114	broad.mit.edu	37	11	92085966	92085966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:92085966G>A	uc001pdj.4	+	0	705	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	230	Cadherin 2.				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)				GTATGATCTGGAAATTTTGGC	0.393000										TCGA Ovarian(4;0.039)				65			35		0	0	0.819951	0	0
MYH2	4620	broad.mit.edu	37	17	10448697	10448697	+	Silent	SNP	G	A	A	rs149579742		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:10448697G>A	uc010coi.3	-	4	599	c.471C>T	c.(469-471)tcC>tcT	p.S157S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S157S|MYH2_uc010coj.3_Silent_p.S157S	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	157	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	p.S157S(2)		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						TGTCAGAGATGGAGAAGATGT	0.537000														207			41		0	0	0.870114	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891723	18891723	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:18891723G>A	uc001rdy.3	+	0	679	c.521G>A	c.(520-522)tGg>tAg	p.W174*	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.	174					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			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)				AAATCTAAATGGATTTTCCAA	0.383000														47			18		0	0	0.592651	0	0
NEFM	4741	broad.mit.edu	37	8	24771739	24771739	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:24771739C>T	uc003xed.4	+	0	466	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	NEFM_uc011lac.1_Nonsense_Mutation_p.Q145*|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	145	Linker 1.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCGCACGCCCAGCTGGGCGA	0.632000														4			5		0	0	0.184627	0	0
RBM12B	389677	broad.mit.edu	37	8	94747873	94747873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:94747873G>A	uc022aye.1	-	0	766	c.766C>T	c.(766-768)Cca>Tca	p.P256S	RBM12B_uc003yfz.3_Missense_Mutation_p.P256S	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	256							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATTCCTCTTGGTGGAGAATGT	0.393000														68			30		0	0	0.740014	0	0
MXRA5	25878	broad.mit.edu	37	X	3228885	3228885	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:3228885C>T	uc004crg.4	-	6	7516	c.7359G>A	c.(7357-7359)cgG>cgA	p.R2453R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2453	Ig-like C2-type 9.					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)				CTGCTATCTCCCGCACAGTGG	0.587000														10			10		0	0	0.387290	0	0
ADAM28	10863	broad.mit.edu	37	8	24188792	24188792	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:24188792G>A	uc003xdy.3	+	11	1316	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ADAM28_uc003xdx.3_Silent_p.G411G|ADAM28_uc011kzz.2_Silent_p.G178G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G98G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	411	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAATTTGTGGGAACCAGTTGG	0.408000														30			16		0	0	0.557998	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533331	47533331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:47533331C>T	uc001cqu.1	+	0	172	c.169C>T	c.(169-171)Cac>Tac	p.H57Y		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	57						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						GTTCTATGGCCACAAGGAGGT	0.473000														17			46		0	0	0.870114	0	0
TLR7	51284	broad.mit.edu	37	X	12905625	12905625	+	Silent	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:12905625T>C	uc004cvc.3	+	2	2137	c.1998T>C	c.(1996-1998)ccT>ccC	p.P666P		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	666					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTTTCTTGCCTTCTGGAGTTT	0.348000														21			22		0	0	0.654019	0	0
AXDND1	126859	broad.mit.edu	37	1	179460829	179460829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:179460829G>A	uc001gmo.3	+	18	2635	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E708K|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	750								p.I749I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGATGCGATTGAACTGACAAG	0.418000														36			115		0	0	0.870114	0	0
NES	10763	broad.mit.edu	37	1	156639850	156639851	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:156639850_156639851GG>AA	uc001fpq.3	-	3	4262_4263	c.4129_4130CC>TT	c.(4129-4131)cct>TTt	p.P1377F	NES_uc021pbh.1_Missense_Mutation_p.P295F	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1377	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.P1377H(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGAAGAAAAGGTGCCTCAGTC	0.619000														5			22		0	0	0.115264	0	0
ANK3	288	broad.mit.edu	37	10	61829606	61829606	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:61829606G>A	uc001jky.3	-	36	11371	c.11033C>T	c.(11032-11034)cCt>cTt	p.P3678L	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.	3678					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						TTCCACTGTAGGTGTCTCTAC	0.542000														5			21		0	0	0.608945	0	0
KCNH8	131096	broad.mit.edu	37	3	19575158	19575158	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:19575158C>T	uc003cbk.1	+	15	3086	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	KCNH8_uc010hex.1_Missense_Mutation_p.S425F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	964	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTGGATCCCTCCTCTGTGGGG	0.502000														57			42		0	0	0.870114	0	0
PREX1	57580	broad.mit.edu	37	20	47249085	47249086	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:47249085_47249086GG>AA	uc002xtw.1	-	33	4382_4383	c.4359_4360CC>TT	c.(4357-4362)tcccgc>tcTTgc	p.R1454C	PREX1_uc002xtv.1_Missense_Mutation_p.R751C	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1454					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCTCCAGGCGGGAGGGCAGCT	0.649000														24			12		0	0	0.115264	0	0
NOS1	4842	broad.mit.edu	37	12	117768779	117768779	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:117768779C>T	uc001twn.2	-	1	807	c.96G>A	c.(94-96)gtG>gtA	p.V32V	NOS1_uc001twm.2_Silent_p.V32V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	32	Interaction with NOSIP (By similarity).|PDZ.				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)	CCCGCTCCTTCACCAGAAATC	0.552000														25			16		0	0	0.539581	0	0
IL10RA	3587	broad.mit.edu	37	11	117869501	117869501	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:117869501C>T	uc001prv.3	+	6	959	c.882C>T	c.(880-882)caC>caT	p.H294H	IL10RA_uc010rxl.2_Silent_p.H274H|IL10RA_uc010rxm.2_Silent_p.H274H|IL10RA_uc010rxn.2_Silent_p.H145H|IL10RA_uc001prw.3_Silent_p.H145H	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	294						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACACCATCCACCCGCTTGATG	0.582000														11			25		0	0	0.706142	0	0
MEP1A	4224	broad.mit.edu	37	6	46787370	46787370	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:46787370G>A	uc011dwh.1	+	5	577	c.569G>A	c.(568-570)gGa>gAa	p.G190E	MEP1A_uc010jzh.1_Missense_Mutation_p.G162E|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.G62E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	162	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.N190K(1)		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)			CATGCTTTGGGATTTTACCAC	0.483000														106			41		0	0	0.870114	0	0
IFT57	55081	broad.mit.edu	37	3	107940986	107940986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:107940986G>A	uc021xcc.1	-	0	237	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	IFT57_uc003dwx.4_Missense_Mutation_p.R62W	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	62					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTGCTCTTCCGGAGGAACTCC	0.682000														8			5		0	0	0.248553	0	0
TMEM225	338661	broad.mit.edu	37	11	123753896	123753896	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:123753896C>T	uc001pzi.3	-	3	835	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	209						integral to membrane		p.T208I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTAGGGAATTCACAGTGTGTG	0.398000														22			30		0	0	0.769981	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752419	19752419	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:19752419G>A	uc009zzj.3	-	2	447	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	114					'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)		CCAGGTCGACGATCTCCTTGC	0.537000														89			11		0	0	0.479597	0	0
CENPE	1062	broad.mit.edu	37	4	104029996	104029996	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:104029996G>A	uc003hxb.1	-	47	8065	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	CENPE_uc003hxc.1_Missense_Mutation_p.R2538C	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2659	Globular autoinhibitory domain (By similarity).				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	p.R2622C(1)		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)		TCAAAATAGCGAACTGGATGA	0.368000														7			27		0	0	0.729181	0	0
DNAH1	25981	broad.mit.edu	37	3	52404564	52404564	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:52404564C>T	uc011bef.2	+	39	6591	c.6330C>T	c.(6328-6330)tcC>tcT	p.S2110S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2110					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATCTTCTCCCTGATCTGGA	0.567000														14			9		0	0	0.361761	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110493695	110493695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:110493695C>T	uc003yne.3	+	55	9465	c.9361C>T	c.(9361-9363)Cct>Tct	p.P3121S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3121	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAGATAACCCTTTTAAAGG	0.378000										HNSCC(38;0.096)				7			3		0	0	0.217242	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960605	73960605	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:73960605G>A	uc004eby.3	-	2	4404	c.3787C>T	c.(3787-3789)Caa>Taa	p.Q1263*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1263					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCACCATGTTGGATACATTCA	0.517000														6			3		0	0	0.150653	0	0
MUC2	4583	broad.mit.edu	37	11	1101046	1101046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:1101046G>A	uc001lsx.1	+	42	7460	c.7433G>A	c.(7432-7434)gGa>gAa	p.G2478E		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4844						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGGAGGGTGGAAGTGGCATC	0.602000														7			15		0	0	0.500413	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:21971029C>T	uc003zpk.3	-	1	635	c.329G>A	c.(328-330)tGg>tAg	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Silent_p.L124L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	110					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.W110*(58)|p.?(44)|p.L165L(2)|p.A109V(2)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				8			25		0	0	0.706142	0	0
SHBG	6462	broad.mit.edu	37	17	7535056	7535056	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:7535056C>T	uc002gie.2	+	4	743	c.705C>T	c.(703-705)ttC>ttT	p.F235F	SHBG_uc010cmu.2_Silent_p.F177F|SHBG_uc010cmo.2_Silent_p.F123F|SHBG_uc010cmp.2_Silent_p.F177F|SHBG_uc010cmq.2_Silent_p.F123F|SHBG_uc010cmr.2_Silent_p.F123F|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Silent_p.F177F|SHBG_uc010cmz.2_Silent_p.F177F|SHBG_uc010cmv.2_Silent_p.F123F|SHBG_uc010cmw.2_Silent_p.F123F|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Silent_p.F177F|SHBG_uc002gid.3_Silent_p.F177F|SHBG_uc010cnd.2_Silent_p.F181F|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Silent_p.F217F|SHBG_uc010vuf.1_Silent_p.F235F|SHBG_uc010cnb.2_Silent_p.F235F|SHBG_uc010cnc.2_Silent_p.F181F	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	235	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AGGCAGAATTCAATCTCCGAG	0.547000														98			110		0	0	0.870114	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332468	140332468	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:140332468C>T	uc004cmw.3	-	2	379	c.195G>A	c.(193-195)aaG>aaA	p.K65K	ENTPD8_uc004cmx.3_Silent_p.K65K|ENTPD8_uc004cmy.2_Silent_p.K65K	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	65						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCCATTCTCCTTGTTCGCCA	0.622000														28			11		0	0	0.435327	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055154	9055154	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:9055154G>A	uc003brf.1	-	16	2661	c.1985C>T	c.(1984-1986)aCc>aTc	p.T662I	SRGAP3_uc003brg.1_Missense_Mutation_p.T638I	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	662	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)		GTGCATGAGGGTAGGCCCGAA	0.532000			T	RAF1	pilocytic astrocytoma									26			15		0	0	0.520397	0	0
SHPRH	257218	broad.mit.edu	37	6	146262942	146262942	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:146262942G>A	uc003qlf.3	-	9	2706	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	SHPRH_uc003qle.3_Silent_p.I769I|SHPRH_uc003qlg.1_Silent_p.I325I|SHPRH_uc003qlj.1_Silent_p.I658I	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	769	Helicase ATP-binding; second part.				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)		CATAGGTAATGATAACTATAT	0.393000														21			10		0	0	0.387290	0	0
SULT2B1	6820	broad.mit.edu	37	19	49102445	49102445	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:49102445G>A	uc002pjl.3	+	6	961	c.880G>A	c.(880-882)Gat>Aat	p.D294N	SULT2B1_uc002pjm.3_Missense_Mutation_p.D279N	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	294					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)		CGAAGCCTTCGATCGTGCCTA	0.667000														3			8		0	0	0.335167	0	0
MGC16703	113691	broad.mit.edu	37	22	21363572	21363572	+	RNA	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:21363572C>T	uc002zty.4	-	2		c.884G>A			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		TGTAGGGCTCCGTCATGGCCA	0.557000														57			33		0	0	0.840704	0	0
TTN	7273	broad.mit.edu	37	2	179441491	179441491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:179441491C>T	uc021vsy.1	-	273	62001	c.61776G>A	c.(61774-61776)tgG>tgA	p.W20592*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W14287*|TTN_uc021vta.1_Nonsense_Mutation_p.W14220*|TTN_uc021vtb.1_Nonsense_Mutation_p.W14095*|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21519	Fibronectin type-III 49.						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)			CTGGCCTTTTCCAGCTGACAG	0.448000														41			9		0	0	0.335167	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481655	95481655	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:95481655C>T	uc010fhq.2	-	1	725	c.333G>A	c.(331-333)atG>atA	p.M111I	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	531										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGTCATTTTTCATTGTACATA	0.299000														43			29		0	0	0.740014	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558738	140558738	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:140558738G>A	uc011dai.2	+	0	1368	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	375	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)			TTCAGACCTTGATTCAGGAGA	0.458000														365			46		0	0	0.870114	0	0
OR9A4	130075	broad.mit.edu	37	7	141619367	141619367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:141619367C>T	uc003vwu.1	+	0	692	c.692C>T	c.(691-693)tCc>tTc	p.S231F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	231					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)					ATCCCGTCATCCTCTGGCCGG	0.478000														66			51		0	0	0.870114	0	0
BIRC6	57448	broad.mit.edu	37	2	32640294	32640294	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:32640294C>T	uc010ezu.3	+	9	2069	c.1935C>T	c.(1933-1935)atC>atT	p.I645I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	645					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)					CAGGAAAGATCTTTTCACAGA	0.378000														18			11		0	0	0.457914	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766897	77766897	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:77766897G>A	uc003yau.2	+	9	8127	c.7740G>A	c.(7738-7740)agG>agA	p.R2580R	ZFHX4_uc003yaw.1_Silent_p.R2535R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2535						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)			CCCTAAAAAGGAAACTAGACG	0.502000										HNSCC(33;0.089)				20			5		0	0	0.217242	0	0
POU2F2	5452	broad.mit.edu	37	19	42626663	42626663	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:42626663C>T	uc002osp.3	-	2	156	c.94_splice	c.e2+1	p.D32_splice	POU2F2_uc002osn.3_Splice_Site_p.D32_splice|POU2F2_uc002osq.3_Splice_Site_p.D32_splice|POU2F2_uc002osr.2_Splice_Site_p.D32_splice	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	32					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)				GCCCACCCACCTGTGTGCTCT	0.627000														16			19		0	0	0.592651	0	0
TPTE	7179	broad.mit.edu	37	21	10916373	10916373	+	Missense_Mutation	SNP	G	A	A	rs138794341	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr21:10916373G>A	uc002yip.1	-	19	1641	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.P407S|TPTE_uc002yir.1_Missense_Mutation_p.P387S|TPTE_uc010gkv.1_Missense_Mutation_p.P287S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	425	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V424A(1)|p.V424F(1)		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)		CACTTACGAGGAATCGAATAA	0.388000														49			15		0	0	0.557998	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814829	88814829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:88814829G>A	uc010iko.1	+	3	1456	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GGCACTTCGGGACAACTCCAC	0.547000														25			11		0	0	0.435327	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725506	140725506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:140725506G>A	uc003ljm.2	+	0	1906	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D636N	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	638	Cadherin 6.				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)			GCTGGACAGAGACGCGCTCAA	0.706000														30			30		0	0	0.827153	0	0
GALNT13	114805	broad.mit.edu	37	2	155099272	155099272	+	Silent	SNP	T	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:155099272T>A	uc002tyt.4	+	3	644	c.540T>A	c.(538-540)atT>atA	p.I180I	GALNT13_uc002tyr.4_Silent_p.I180I|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.	180	Catalytic subdomain A.					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						TAAAAATTATTAGGATGGAAG	0.358000														13			17		0	0	0.608945	0	0
LGSN	51557	broad.mit.edu	37	6	63990433	63990433	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:63990433C>T	uc003peh.3	-	3	1057	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	LGSN_uc003pei.3_Missense_Mutation_p.G201E	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	341					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(2)		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)	ACCATTTTTTCCCAGTGATCG	0.488000														32			13		0	0	0.557998	0	0
CLCN6	1185	broad.mit.edu	37	1	11884570	11884570	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:11884570T>C	uc001ate.4	+	7	721	c.608T>C	c.(607-609)aTg>aCg	p.M203T	CLCN6_uc009vnf.1_Missense_Mutation_p.M203T|CLCN6_uc009vng.1_Missense_Mutation_p.M203T|CLCN6_uc009vnh.1_Missense_Mutation_p.M203T|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Missense_Mutation_p.M181T	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	203					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCCCCATGATCCACAGT	0.597000														16			14		0	0	0.557998	0	0
PELI2	57161	broad.mit.edu	37	14	56755318	56755318	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:56755318C>T	uc001xch.3	+	3	759	c.473C>T	c.(472-474)gCc>gTc	p.A158V		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	158					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATATTCGCCGCCGGATTTGAC	0.438000														7			16		0	0	0.608945	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636271	20636271	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:20636271G>A	uc001mqd.3	+	5	1305	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	SLC6A5_uc009yic.3_Silent_p.S109S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	344					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S344S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCAAGAACTCGACTTTCTGCA	0.408000														31			55		0	0	0.870114	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719075	140719075	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:140719075C>T	uc003ljk.2	+	0	722	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.S179S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	179	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)			ACCACTTCTCCCTGGACGTGC	0.562000														22			56		0	0	0.870114	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746532	77746532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:77746532C>T	uc002snr.3	-	2	878	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	LRRTM4_uc002snq.3_Missense_Mutation_p.G155S|LRRTM4_uc002sns.2_Missense_Mutation_p.G155S|LRRTM4_uc002snt.2_Missense_Mutation_p.G156S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	155						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTCCGAAGGCCTTTAAATTGT	0.383000														18			30		0	0	0.717897	0	0
MUC16	94025	broad.mit.edu	37	19	9064403	9064403	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9064403C>T	uc002mkp.3	-	2	23247	c.23043G>A	c.(23041-23043)gtG>gtA	p.V7681V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7683	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						TGGTTTCTTTCACAAAGGGAG	0.547000														35			8		0	0	0.335167	0	0
abParts	0	broad.mit.edu	37	15	22472946	22472946	+	RNA	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:22472946C>T	uc001yuj.2	-	6		c.382G>A								Parts of antibodies, mostly variable regions.																		ACGGCCCTGTCCGCGGCGGTC	0.602000														92			66		0	0	0.870114	0	0
FOXD4	2298	broad.mit.edu	37	9	116808	116808	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:116808G>A	uc003zfz.3	-	0	1610	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	438					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTCTAGGAGGGCCCTGCGGAC	0.657000														12			5		0	0	0.184627	0	0
KIF23	9493	broad.mit.edu	37	15	69732339	69732339	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:69732339T>C	uc002asb.3	+	15	1988	c.1810T>C	c.(1810-1812)Ttt>Ctt	p.F604L	KIF23_uc002asc.3_Missense_Mutation_p.F604L|KIF23_uc010bii.3_Missense_Mutation_p.F494L|KIF23_uc010ukc.2_Missense_Mutation_p.F421L	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	604					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCAGCGACAGTTTTCTGACAA	0.408000														27			8		0	0	0.278610	0	0
PTPRT	11122	broad.mit.edu	37	20	41385114	41385114	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:41385114G>A	uc002xkg.3	-	5	1031	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	PTPRT_uc010ggj.3_Silent_p.L283L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	283	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCACGATCAGCTCCGCGTAG	0.577000														24			24		0	0	0.788014	0	0
SPTBN4	57731	broad.mit.edu	37	19	41007858	41007858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:41007858C>T	uc002ony.3	+	7	901	c.815C>T	c.(814-816)tCc>tTc	p.S272F	SPTBN4_uc002onx.3_Missense_Mutation_p.S272F|SPTBN4_uc002onz.3_Missense_Mutation_p.S272F	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	272	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GATGAGAAGTCCATCATCACC	0.507000														116			20		0	0	0.693898	0	0
KPRP	448834	broad.mit.edu	37	1	152732493	152732493	+	Silent	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:152732493T>C	uc001fal.1	+	1	487	c.429T>C	c.(427-429)acT>acC	p.T143T	KPRP_uc021ozf.1_Silent_p.T143T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	143	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATACAGAAACTTGTTATGTAG	0.512000														29			108		0	0	0.870114	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152492	50152492	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:50152492C>T	uc001zxu.3	-	27	3620	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	ATP8B4_uc010ber.3_Missense_Mutation_p.E1033K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E970K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.E163K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1160					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTGTCTTTTCCAGCCCTGAT	0.418000														50			43		0	0	0.870114	0	0
HECW1	23072	broad.mit.edu	37	7	43484956	43484956	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:43484956G>A	uc003tid.1	+	10	2790	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	HECW1_uc011kbi.1_Missense_Mutation_p.E729K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	729					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAAGATCTCCGAGAGCACGGT	0.637000														76			58		0	0	0.870114	0	0
BEND4	389206	broad.mit.edu	37	4	42145696	42145696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:42145696G>A	uc003gwn.3	-	2	1383	c.803C>T	c.(802-804)tCg>tTg	p.S268L	BEND4_uc003gwm.3_Missense_Mutation_p.S268L|BEND4_uc011byy.1_Missense_Mutation_p.S268L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	268										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ACTGGCTGACGAGGGGTTTGG	0.493000														6			13		0	0	0.479597	0	0
OR6C3	254786	broad.mit.edu	37	12	55725861	55725861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:55725861C>T	uc010spj.2	+	0	377	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATCTGCAAGCCCCTTCATTAC	0.453000														73			24		0	0	0.717897	0	0
MYH2	4620	broad.mit.edu	37	17	10442632	10442632	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:10442632C>T	uc010coi.3	-	13	1434	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E436K|MYH2_uc010coj.3_Missense_Mutation_p.E436K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	436	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	p.E436*(2)		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						AACATCTTCTCGTAGACGGCT	0.483000														130			35		0	0	0.847076	0	0
MXRA5	25878	broad.mit.edu	37	X	3235891	3235891	+	Missense_Mutation	SNP	G	A	A	rs137882293		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:3235891G>A	uc004crg.4	-	5	5988	c.5831C>T	c.(5830-5832)tCg>tTg	p.S1944L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1944	Ig-like C2-type 3.					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)				CACGGTGACCGAAAGCAAGAC	0.552000														47			3		0	0	0.115264	0	0
CD63	967	broad.mit.edu	37	12	56120749	56120749	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:56120749C>T	uc001shn.3	-	4	441	c.256_splice	c.e4-1	p.F86_splice	CD63_uc009znz.3_Splice_Site_p.F63_splice|CD63_uc001sho.3_Splice_Site_p.F86_splice	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	86					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AGATGGCAAACTGCAGGAGCA	0.512000														56			66		0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237875104	237875104	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:237875104C>T	uc001hyl.1	+	70	10410	c.10290C>T	c.(10288-10290)ttC>ttT	p.F3430F	RYR2_uc010pxz.1_Silent_p.F385F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3430					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATGTCTTTCCTTATTACTG	0.308000														3			10		0	0	0.435327	0	0
ACACA	31	broad.mit.edu	37	17	35536293	35536293	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:35536293G>A	uc002hnm.3	-	40	5067	c.4876C>T	c.(4876-4878)Cct>Tct	p.P1626S	ACACA_uc002hnk.3_Missense_Mutation_p.P1548S|ACACA_uc002hnl.3_Missense_Mutation_p.P1568S|ACACA_uc002hnn.3_Missense_Mutation_p.P1626S|ACACA_uc002hno.3_Missense_Mutation_p.P1663S|ACACA_uc010cuy.3_Intron	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1626					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)	GAAGGCAGAGGGGGAGATGGA	0.453000														33			29		0	0	0.779181	0	0
NECAP1	25977	broad.mit.edu	37	12	8245546	8245546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:8245546C>T	uc001qtx.2	+	5	649	c.571C>T	c.(571-573)Cca>Tca	p.P191S	NECAP1_uc001qty.2_Missense_Mutation_p.P49S	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	191					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		p.P190T(1)|p.P190L(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		CCCACCCCCGCCAGGAGGCAA	0.512000														152			121		0	0	0.870114	0	0
DNM3	26052	broad.mit.edu	37	1	171890926	171890926	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:171890926G>A	uc001gie.3	+	1	376	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	DNM3_uc001gid.4_Missense_Mutation_p.R67Q|DNM3_uc009wwb.2_Missense_Mutation_p.R67Q|DNM3_uc001gif.3_Missense_Mutation_p.R67Q	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	67					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTAACAAGACGACCTCTTGTG	0.433000														3			10		0	0	0.361761	0	0
GZMH	2999	broad.mit.edu	37	14	25076890	25076890	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:25076890G>A	uc001wpr.1	-	2	312	c.267C>T	c.(265-267)atC>atT	p.I89I	GZMH_uc010aly.1_Silent_p.I89I|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	89	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TTTTCACAGGGATAAACTGCT	0.532000														22			65		0	0	0.870114	0	0
GPR174	84636	broad.mit.edu	37	X	78427035	78427035	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:78427035C>T	uc004edg.1	+	0	567	c.531C>T	c.(529-531)gtC>gtT	p.V177V		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	177						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCAGGAATGTCAACCTGGCCC	0.463000										HNSCC(63;0.18)				28			19		0	0	0.639603	0	0
DCLK3	85443	broad.mit.edu	37	3	36779466	36779466	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:36779466G>A	uc003cgi.2	-	1	1176	c.685C>T	c.(685-687)Cca>Tca	p.P229S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	229						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P229A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGATCCTCTGGGCCTCTGTCC	0.572000														38			36		0	0	0.853193	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:50169132C>T	uc002ppa.3	+	0	734	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_Splice_Site|IRF3_uc021uxq.1_Splice_Site|IRF3_uc002pot.2_Splice_Site|IRF3_uc021uxr.1_Splice_Site|IRF3_uc021uxs.1_Splice_Site|IRF3_uc002pow.3_Splice_Site|IRF3_uc021uxo.1_Splice_Site|IRF3_uc002pou.3_Splice_Site|IRF3_uc010end.2_Splice_Site|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.R18W	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000														34			6		0	0	0.248553	0	0
SPICE1	152185	broad.mit.edu	37	3	113212090	113212090	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:113212090G>A	uc003eag.4	-	5	746	c.455C>T	c.(454-456)aCc>aTc	p.T152I	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.T48I	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	152					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GATAGATTGGGTGATAGGGTC	0.413000														41			18		0	0	0.654019	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214080	140214080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:140214080G>A	uc003lhq.2	+	0	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	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_uc011dac.2_Missense_Mutation_p.E38K	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	51					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E38K(2)|p.E38*(1)		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)			GGTCCCCGAGGAGGCTAAACA	0.617000														15			52		0	0	0.870114	0	0
DLC1	10395	broad.mit.edu	37	8	12957987	12957987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:12957987G>A	uc003wwm.2	-	8	2303	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	DLC1_uc003wwk.1_Missense_Mutation_p.S183F|DLC1_uc003wwl.1_Missense_Mutation_p.S217F|DLC1_uc011kxx.1_Missense_Mutation_p.S109F	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	620					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						GCTGATGACGGAGTTAGTCCG	0.642000														43			60		0	0	0.870114	0	0
BRS3	680	broad.mit.edu	37	X	135570657	135570657	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:135570657C>T	uc004ezv.1	+	0	533	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	128					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCATCCGGCTCACTTCTGTTG	0.443000														73			5		0	0	0.184627	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885224	24885224	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:24885224C>T	uc001wpf.4	+	8	4587	c.4269C>T	c.(4267-4269)tcC>tcT	p.S1423S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1423					DNA integration	integral to membrane	DNA binding	p.S1423S(2)		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						GCCTCTCATCCCTTCCGTTTA	0.617000														18			35		0	0	0.847076	0	0
LRP1B	53353	broad.mit.edu	37	2	140995831	140995831	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:140995831C>T	uc002tvj.1	-	88	14422	c.13450G>A	c.(13450-13452)Gga>Aga	p.G4484R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4484					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)		TTTATTCCTCCATTGATAATA	0.303000										TSP Lung(27;0.18)				18			6		0	0	0.217242	0	0
NLRP4	147945	broad.mit.edu	37	19	56373457	56373457	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:56373457C>T	uc002qmd.4	+	4	2540	c.2118C>T	c.(2116-2118)ctC>ctT	p.L706L	NLRP4_uc002qmf.3_Silent_p.L631L|NLRP4_uc010etf.3_Silent_p.L537L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	706							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCACGAAACTCTCTCGTGATG	0.468000														18			30		0	0	0.769981	0	0
C8A	731	broad.mit.edu	37	1	57378172	57378172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:57378172G>A	uc001cyo.2	+	9	1609	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	493	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTATCTGATGGAATTCAATGC	0.632000														18			37		0	0	0.847076	0	0
SATB1	6304	broad.mit.edu	37	3	18436006	18436006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:18436006C>T	uc003cbh.3	-	6	2889	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	SATB1_uc003cbi.3_Missense_Mutation_p.R385Q|SATB1_uc003cbj.3_Missense_Mutation_p.R385Q	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	385					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding	p.R385*(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATTCCTGCTCGTTTCAGTTC	0.463000														107			76		0	0	0.870114	0	0
OR51T1	401665	broad.mit.edu	37	11	4903486	4903486	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:4903486C>T	uc010qyp.2	+	0	438	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	119					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)		TGCTGGTAGCCATGGCCTTTG	0.493000														18			40		0	0	0.870114	0	0
HTRA4	203100	broad.mit.edu	37	8	38831791	38831791	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:38831791A>C	uc003xmj.3	+	0	124	c.9A>C	c.(7-9)agA>agC	p.R3S		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	3					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GGATGATTAGACCTCAGCTGC	0.617000														29			13		0	0	0.500413	0	0
APLP1	333	broad.mit.edu	37	19	36364607	36364607	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:36364607C>T	uc002oce.3	+	7	1186	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L	APLP1_uc010xsz.2_Silent_p.L311L|APLP1_uc002ocf.3_Silent_p.L350L|APLP1_uc002ocg.3_Silent_p.L253L|APLP1_uc010xta.2_Silent_p.L344L	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	350					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGACAGGCCCTGAATGAGGT	0.587000														17			15		0	0	0.500413	0	0
DPPA2	151871	broad.mit.edu	37	3	109023446	109023446	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:109023446G>A	uc003dxo.3	-	6	977	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	244						nucleus	nucleic acid binding	p.H244Y(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGACCTGCATGAAACTGCAGG	0.502000														47			33		0	0	0.853193	0	0
PPP6C	5537	broad.mit.edu	37	9	127915925	127915925	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:127915925G>A	uc010mwv.3	-	6	888	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PPP6C_uc004bpg.4_Missense_Mutation_p.P186S|PPP6C_uc010mww.3_Missense_Mutation_p.P164S|PPP6C_uc011lzr.2_Missense_Mutation_p.P39S	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	186					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CCTTTATGAGGAATTTCCTGA	0.433000														9			26		0	0	0.706142	0	0
CNTN6	27255	broad.mit.edu	37	3	1443200	1443200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:1443200G>A	uc003boz.3	+	20	3055	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	CNTN6_uc011asj.2_Missense_Mutation_p.E858K|CNTN6_uc003bpa.3_Missense_Mutation_p.E930K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	930	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAAACCATGGAAAATGAGTC	0.368000														15			12		0	0	0.435327	0	0
PDLIM5	10611	broad.mit.edu	37	4	95583616	95583616	+	Silent	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:95583616T>C	uc003hti.3	+	11	1780	c.1629T>C	c.(1627-1629)ttT>ttC	p.F543F	PDLIM5_uc011cdx.1_Silent_p.F440F|PDLIM5_uc003htj.3_Silent_p.F218F|PDLIM5_uc003htk.3_Silent_p.F572F|PDLIM5_uc011cdy.2_Silent_p.F421F|PDLIM5_uc003hth.3_Silent_p.F434F|PDLIM5_uc003htl.3_Silent_p.F218F	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	543	LIM zinc-binding 3.				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)		GATGTGAATTTCCCATAGAAG	0.388000														23			43		0	0	0.870114	0	0
RXFP2	122042	broad.mit.edu	37	13	32376374	32376374	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:32376374G>A	uc001utt.3	+	17	2168	c.2097G>A	c.(2095-2097)aaG>aaA	p.K699K	RXFP2_uc010aba.3_Silent_p.K675K	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	699						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACTTTTTTAAGGACAAGTTGA	0.353000														14			19		0	0	0.557998	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367835	99367835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:99367835C>T	uc003urv.2	-	4	449	c.342G>A	c.(340-342)atG>atA	p.M114I	CYP3A4_uc003urw.2_Missense_Mutation_p.M114I|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	114					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGGCACTTTTCATAAATCCCA	0.408000														38			24		0	0	0.729181	0	0
BC101079	0	broad.mit.edu	37	15	102292797	102292797	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:102292797C>G	uc010usj.2	+	3	444	c.385C>G	c.(385-387)Cca>Gca	p.P129A	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597000														67			3		0	0	0.217242	0	0
CADPS	8618	broad.mit.edu	37	3	62423879	62423880	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:62423879_62423880CC>TT	uc003dll.2	-	27	4036_4037	c.3676_3677GG>AA	c.(3676-3678)ggg>AAg	p.G1226K	CADPS_uc003dlj.1_Missense_Mutation_p.G181K|CADPS_uc003dlk.1_Missense_Mutation_p.G674K|CADPS_uc003dlm.2_Missense_Mutation_p.G1187K|CADPS_uc003dln.2_Missense_Mutation_p.G1147K|CADPS_uc021wzv.1_Missense_Mutation_p.G1217K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1226	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CACGTCCATCCCGGGTTTCTGT	0.460000														25			15		0	0	0.115264	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192551	132192551	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:132192551T>C	uc003vra.4	-	1	1131	c.902A>G	c.(901-903)gAg>gGg	p.E301G	PLXNA4_uc003vrc.2_Missense_Mutation_p.E301G|PLXNA4_uc003vrb.3_Missense_Mutation_p.E301G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	301	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						CCCACTGCGCTCACAGCCAAT	0.597000														37			21		0	0	0.639603	0	0
NLRP5	126206	broad.mit.edu	37	19	56515139	56515139	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:56515139C>T	uc002qmj.3	+	1	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F	NLRP5_uc002qmi.3_Silent_p.F40F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	40						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)		ATCCACTTTTCCCCCAAAACC	0.438000														40			7		0	0	0.335167	0	0
ADAM28	10863	broad.mit.edu	37	8	24181448	24181448	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:24181448G>A	uc003xdy.3	+	8	905	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ADAM28_uc003xdx.3_Silent_p.E274E|ADAM28_uc011kzz.2_Silent_p.E41E|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	274	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E274D(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCACCTTGGAGAATTTTTCTA	0.383000														42			13		0	0	0.411799	0	0
TRMT2B	79979	broad.mit.edu	37	X	100290673	100290673	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:100290673C>T	uc004egt.3	-	7	952	c.539_splice	c.e7-1	p.D180_splice	TRMT2B_uc004egu.3_Splice_Site_p.D61_splice|TRMT2B_uc004egr.3_Splice_Site_p.D180_splice|TRMT2B_uc004egv.3_Splice_Site_p.D135_splice|TRMT2B_uc004egq.3_Splice_Site_p.D180_splice|TRMT2B_uc004egs.3_Splice_Site_p.D180_splice	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	180							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ACGTTCCCATCTATGGAAAGA	0.363000														50			7		0	0	0.307466	0	0
SEC23B	10483	broad.mit.edu	37	20	18511378	18511378	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:18511378C>T	uc002wra.2	+	9	1625	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	SEC23B_uc010zsb.2_Silent_p.F370F|SEC23B_uc002wrb.2_Silent_p.F388F|SEC23B_uc002wqz.2_Silent_p.F388F|SEC23B_uc002wrc.2_Silent_p.F388F	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	388					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGCAGACATTCCAAAGAATCT	0.338000														22			34		0	0	0.827153	0	0
DAZAP2	9802	broad.mit.edu	37	12	51634702	51634702	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:51634702C>T	uc010snd.2	+	2	364	c.180C>T	c.(178-180)acC>acT	p.T60T	DAZAP2_uc021qxy.1_Silent_p.T60T|DAZAP2_uc010snc.2_Intron|DAZAP2_uc001ryb.3_Silent_p.T60T|DAZAP2_uc010sne.2_Intron|DAZAP2_uc010snf.1_Silent_p.T60T	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	Homo sapiens DAZ associated protein 2 (DAZAP2), transcript variant 3, mRNA.	60	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CAGTCCCCACCATGTCAGCCG	0.512000														67			25		0	0	0.729181	0	0
SPATA5	166378	broad.mit.edu	37	4	124235123	124235123	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:124235123C>T	uc003iez.4	+	15	2659	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	862					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAAGACATTTCACTCAGGCCT	0.408000														6			24		0	0	0.667858	0	0
UNC13A	23025	broad.mit.edu	37	19	17780454	17780454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:17780454G>A	uc021uqk.1	-	4	344	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	101					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						GATGACCTGGGAGTCCAGCGT	0.617000														9			3		0	0	0.150653	0	0
FAM5B	57795	broad.mit.edu	37	1	177247853	177247853	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:177247853C>T	uc001glf.3	+	6	1479	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	FAM5B_uc010pna.1_Silent_p.I139I|FAM5B_uc001glg.3_Silent_p.I284I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	389						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						CCCATCGGATCCTACGCCGGC	0.612000														14			75		0	0	0.870114	0	0
TMEM5	10329	broad.mit.edu	37	12	64174929	64174929	+	Silent	SNP	A	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:64174929A>T	uc001srq.1	+	1	404	c.300A>T	c.(298-300)gtA>gtT	p.V100V	TMEM5_uc001srs.1_5'UTR	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	100						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ATCTCAGTGTACAAATCTGGG	0.313000														54			40		0	0	0.870114	0	0
TFB1M	51106	broad.mit.edu	37	6	155578999	155578999	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:155578999C>T	uc003qqj.4	-	6	1067	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	TFB1M_uc003qqk.3_Non-coding_Transcript|TFB1M_uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	Homo sapiens transcription factor B1, mitochondrial (TFB1M), nuclear gene encoding mitochondrial protein, mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GCGTCATCCTCTTCTTTTTCT	0.418000														8			5		0	0	0.184627	0	0
SHC3	53358	broad.mit.edu	37	9	91686121	91686121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:91686121C>T	uc004aqf.2	-	4	1083	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	259	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TACCGGGTCTCCCCCAGAGGC	0.498000														15			29		0	0	0.812448	0	0
BARHL2	343472	broad.mit.edu	37	1	91180150	91180150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:91180150C>T	uc001dns.3	-	1	831	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	263						nucleus	sequence-specific DNA binding	p.R262C(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAGCCAGGTCCATGCGATCCT	0.567000														19			52		0	0	0.870114	0	0
OR11L1	391189	broad.mit.edu	37	1	248004808	248004808	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:248004808G>A	uc001idn.1	-	0	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131S(2)		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)			AAGGGGTAGCGGAGTGGGCTG	0.587000														3			26		0	0	0.693898	0	0
ULK4	54986	broad.mit.edu	37	3	41961249	41961249	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:41961249G>A	uc003ckv.4	-	5	804	c.603C>T	c.(601-603)gaC>gaT	p.D201D	ULK4_uc003ckw.2_Silent_p.D201D|ULK4_uc003ckx.1_Silent_p.D201D	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	201	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.D201E(3)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGACCAGAGGTCACTGGAGA	0.413000														113			56		0	0	0.870114	0	0
DSCAM	1826	broad.mit.edu	37	21	41725649	41725649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr21:41725649G>A	uc002yyq.1	-	4	1129	c.677C>T	c.(676-678)tCc>tTc	p.S226F	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.	226	Ig-like C2-type 3.				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	p.S226S(1)		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)				ATCCAGTATGGATGGGGCTGA	0.512000														10			5		0	0	0.217242	0	0
TOX2	84969	broad.mit.edu	37	20	42682992	42682992	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:42682992G>A	uc010ggo.3	+	4	745	c.705G>A	c.(703-705)ccG>ccA	p.P235P	TOX2_uc002xle.4_Silent_p.P193P|TOX2_uc010ggp.3_Silent_p.P193P|TOX2_uc002xlf.4_Silent_p.P244P|TOX2_uc010zwk.2_Silent_p.P113P	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.V234M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCAAGAACCCGAAGAAGAAGA	0.542000														11			7		0	0	0.335167	0	0
USP6	9098	broad.mit.edu	37	17	5058737	5058737	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:5058737C>T	uc002gau.1	+	30	4894	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F	USP6_uc002gav.1_Silent_p.F888F|USP6_uc010ckz.1_Silent_p.F571F	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	888					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTGTATTTCCTGTCACCTC	0.458000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									75			26		0	0	0.740014	0	0
OPN1SW	611	broad.mit.edu	37	7	128413867	128413867	+	Missense_Mutation	SNP	C	T	T	rs138093200		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:128413867C>T	uc003vnt.4	-	3	763	c.763G>A	c.(763-765)Gta>Ata	p.V255I		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	255					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AAGGATCCTACCATCACAACC	0.577000														29			19		0	0	0.575678	0	0
TANC2	26115	broad.mit.edu	37	17	61499137	61499137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:61499137G>A	uc002jal.4	+	24	5817	c.5794G>A	c.(5794-5796)Gga>Aga	p.G1932R	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.G1043R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1932							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CGGGTCTCGTGGAGACCTCTT	0.532000														56			9		0	0	0.387290	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229841	154229841	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:154229841C>T	uc001fep.4	+	19	2540	c.2373C>T	c.(2371-2373)ctC>ctT	p.L791L	UBAP2L_uc009wot.3_Silent_p.L791L|UBAP2L_uc010pek.2_Silent_p.L783L|UBAP2L_uc010pel.2_Silent_p.L801L|UBAP2L_uc010pen.2_Silent_p.L705L|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'UTR|SNORA58_uc021pae.1_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	791					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCCCAACCTCCCTCCTGGGG	0.468000														13			29		0	0	0.819951	0	0
IL6ST	3572	broad.mit.edu	37	5	55260006	55260006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:55260006G>A	uc003jqq.3	-	5	939	c.626C>T	c.(625-627)tCa>tTa	p.S209L	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Missense_Mutation_p.S209L|IL6ST_uc010iwb.3_Missense_Mutation_p.S209L|IL6ST_uc010iwf.1_Non-coding_Transcript	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	209	Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GATATGATCTGATGTAACCTT	0.358000			O		hepatocellular ca									29			47		0	0	0.870114	0	0
ZNF208	7757	broad.mit.edu	37	19	22156453	22156453	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:22156453G>A	uc021urr.1	-	3	1532	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	ZNF208_uc002nqo.1_Intron	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)				ACATACTAAAGCCTTTGCCAC	0.383000														39			3		0	0	0.115264	0	0
MICAL3	57553	broad.mit.edu	37	22	18300933	18300933	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:18300933G>A	uc002zng.4	-	25	4847	c.4494C>T	c.(4492-4494)ccC>ccT	p.P1498P	MICAL3_uc011agl.2_Silent_p.P1414P|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1498	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGGCTCCCGGGGGGGCCGCA	0.682000														13			7		0	0	0.335167	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435524	18435524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:18435524G>A	uc001rdt.3	+	1	625	c.509G>A	c.(508-510)gGa>gAa	p.G170E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.G170E|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	170					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACCATATAGGATTTGAAAGT	0.338000														43			15		0	0	0.520397	0	0
ZNF148	7707	broad.mit.edu	37	3	124951262	124951262	+	Missense_Mutation	SNP	G	A	A	rs137930153		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:124951262G>A	uc003ehx.4	-	8	2794	c.2308C>T	c.(2308-2310)Ccc>Tcc	p.P770S	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.P770S|ZNF148_uc010hsa.3_Missense_Mutation_p.P770S|ZNF148_uc003eia.4_Missense_Mutation_p.P770S|ZNF148_uc003ehy.3_Missense_Mutation_p.P107S	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	770					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.P770S(2)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCACCAAGGGAAATTCTGAA	0.408000														34			18		0	0	0.608945	0	0
ZNF560	147741	broad.mit.edu	37	19	9578939	9578939	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9578939G>A	uc002mlp.1	-	9	894	c.684C>T	c.(682-684)tgC>tgT	p.C228C	ZNF560_uc010dwr.1_Silent_p.C122C	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGGTCTTAAGGCATGGATGTT	0.373000														50			13		0	0	0.479597	0	0
FAM63A	55793	broad.mit.edu	37	1	150971967	150971967	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:150971967G>A	uc010pcn.2	-	7	1226	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	FAM63A_uc001ewc.3_Silent_p.L145L|FAM63A_uc010pcm.2_Silent_p.L192L|FAM63A_uc001ewd.3_Silent_p.L145L|FAM63A_uc001ewf.3_Silent_p.L287L|FAM63A_uc001ewg.3_Silent_p.L287L	NM_001163258	NP_001156730	Q8N5J2	FA63A_HUMAN	Homo sapiens family with sequence similarity 63, member A (FAM63A), transcript variant 3, mRNA.	287							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGGTCTCCAGGAACTGCTCT	0.557000														33			142		0	0	0.870114	0	0
DENND4B	9909	broad.mit.edu	37	1	153906074	153906074	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:153906074G>T	uc001fdd.1	-	19	3616	c.3215C>A	c.(3214-3216)cCt>cAt	p.P1072H		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1072										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGGGAGGCAGGGGAGTGGCG	0.721000														4			16		1.87028e-06	1.87773e-06	0.608945	1	0
ANK3	288	broad.mit.edu	37	10	61834248	61834248	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:61834248C>T	uc001jky.3	-	36	6729	c.6391G>A	c.(6391-6393)Gaa>Aaa	p.E2131K	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.	2131					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						CTTCTTGTTTCAAAGCCACTG	0.423000														16			17		0	0	0.592651	0	0
KCNC3	3748	broad.mit.edu	37	19	50823849	50823849	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:50823849C>T	uc002pru.1	-	3	2465	c.2170_splice	c.e3+1	p.A724_splice	KCNC3_uc002prt.1_Splice_Site_p.A360_splice	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	724					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGGCACCTCACCTTTTCGGAT	0.672000														6			9		0	0	0.361761	0	0
CHRNA3	1136	broad.mit.edu	37	15	78909424	78909424	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:78909424C>T	uc002bec.3	-	3	820	c.319G>A	c.(319-321)Gag>Aag	p.E107K	CHRNA3_uc002beb.3_Missense_Mutation_p.E107K|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	107					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCATGAACTCTGCCCCACCA	0.552000														33			8		0	0	0.387290	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762616	130762616	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:130762616C>T	uc003qcb.3	+	1	3427	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	TMEM200A_uc003qca.3_Missense_Mutation_p.S350F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S350F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S350F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S350F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	350						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGGAATAATTCCATTGGGGAG	0.522000														36			26		0	0	0.693898	0	0
GFM1	85476	broad.mit.edu	37	3	158376735	158376735	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:158376735T>C	uc003fce.3	+	8	1215	c.1108T>C	c.(1108-1110)Tat>Cat	p.Y370H	GFM1_uc003fcd.3_Missense_Mutation_p.Y370H|GFM1_uc003fcg.3_Missense_Mutation_p.Y301H	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	370					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACAATTAACTTATGTTCGCAG	0.408000														30			27		0	0	0.779181	0	0
HERC6	55008	broad.mit.edu	37	4	89326115	89326115	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:89326115A>T	uc011cdi.2	+	8	1363	c.1180A>T	c.(1180-1182)Aaa>Taa	p.K394*	HERC6_uc011cdj.2_Nonsense_Mutation_p.K394*|HERC6_uc011cdk.2_Intron|HERC6_uc011cdl.2_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	394					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GATAGCAGTGAAAAGAAGAAG	0.433000														35			20		0	0	0.706142	0	0
ACACB	32	broad.mit.edu	37	12	109692078	109692078	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:109692078A>T	uc001tob.3	+	43	6224	c.6105A>T	c.(6103-6105)gaA>gaT	p.E2035D	ACACB_uc001toc.3_Missense_Mutation_p.E2035D|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.E701D	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2035	Carboxyltransferase.				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)	GAGAAATTGAATTCCTCCCAT	0.502000														93			37		0	0	0.840704	0	0
PCDH10	57575	broad.mit.edu	37	4	134072069	134072069	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:134072069C>T	uc003iha.3	+	0	1600	c.774C>T	c.(772-774)tcC>tcT	p.S258S	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.S258S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	258	Cadherin 3.				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)		ACACTGTGTCCCTACCAGAGA	0.632000														25			42		0	0	0.870114	0	0
MUC5B	727897	broad.mit.edu	37	11	1274045	1274045	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:1274045G>A	uc001lta.3	+	32	15111	c.15052G>A	c.(15052-15054)Gag>Aag	p.E5018K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5018					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)		CCAGGTGAATGAGACCTGGAC	0.647000														5			8		0	0	0.361761	0	0
CHL1	10752	broad.mit.edu	37	3	432737	432737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:432737C>T	uc003bot.3	+	21	3328	c.2686C>T	c.(2686-2688)Cct>Tct	p.P896S	CHL1_uc003bou.3_Missense_Mutation_p.P880S|CHL1_uc003bow.2_Missense_Mutation_p.P880S|CHL1_uc011asi.2_Missense_Mutation_p.P896S	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	880	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGAATGGTTCCTTCCTTAGA	0.368000														27			19		0	0	0.575678	0	0
CANT1	124583	broad.mit.edu	37	17	76993389	76993389	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:76993389G>A	uc002jwj.3	-	1	811	c.316C>T	c.(316-318)Cga>Tga	p.R106*	CANT1_uc002jwn.3_Nonsense_Mutation_p.R106*|CANT1_uc002jwk.3_Nonsense_Mutation_p.R106*|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	106					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACTGCGATTCGATACCGAATC	0.567000			T	ETV4	prostate									127			55		0	0	0.870114	0	0
CYB5R1	51706	broad.mit.edu	37	1	202932811	202932811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:202932811G>A	uc001gyt.2	-	6	675	c.604C>T	c.(604-606)Cct>Tct	p.P202S	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	202					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	p.P202R(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGATCTTCAGGGACTTTCAGG	0.517000														11			16		0	0	0.592651	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715752	18715752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:18715752G>A	uc001rdt.3	+	25	3699	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1236K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1014K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1195					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTTCCTCAGGAATCCTGTTT	0.403000														1			3		0	0	0.115264	0	0
C18orf26	284254	broad.mit.edu	37	18	52265112	52265112	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:52265112G>A	uc002lfq.1	+	2	415	c.369G>A	c.(367-369)gtG>gtA	p.V123V		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	123						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TAGCCTGTGTGATAATGACAG	0.383000														52			31		0	0	0.827153	0	0
CSF2RB	1439	broad.mit.edu	37	22	37319396	37319396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:37319396C>T	uc003aqa.4	+	2	404	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	CSF2RB_uc003aqc.4_Missense_Mutation_p.R63C	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	63					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTCATTCGCCGGGTGAA	0.652000														16			8		0	0	0.307466	0	0
BCL2L11	10018	broad.mit.edu	37	2	111907670	111907670	+	Silent	SNP	C	T	T	rs143377281	by1000genomes	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:111907670C>T	uc002tgv.1	+	2	732	c.444C>T	c.(442-444)atC>atT	p.I148I	BCL2L11_uc002tgu.1_Silent_p.I88I|BCL2L11_uc002tgy.2_Intron|BCL2L11_uc002thb.2_Silent_p.I88I|BCL2L11_uc002tgx.2_Silent_p.I58I|BCL2L11_uc021vmp.1_Intron|BCL2L11_uc010fkd.2_3'UTR|BCL2L11_uc002tgz.2_Silent_p.I58I|BCL2L11_uc002thd.2_Intron|BCL2L11_uc002tha.2_Intron|BCL2L11_uc010fke.2_Intron|BCL2L11_uc021vmq.1_Silent_p.I148I|BCL2L11_uc002thc.2_Silent_p.I58I|BCL2L11_uc021vmr.1_3'UTR|BCL2L11_uc002tgw.2_Silent_p.I58I|BCL2L11_uc021vms.1_Silent_p.I148I	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	148					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						AGATATGGATCGCCCAAGAGT	0.473000														20			27		0	0	0.769981	0	0
CHD8	57680	broad.mit.edu	37	14	21883941	21883941	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:21883941G>A	uc001war.2	-	4	1907	c.1842C>T	c.(1840-1842)ctC>ctT	p.L614L	CHD8_uc001was.2_Silent_p.L335L	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	614					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)		CTGGTTCAGGGAGGATAGGCT	0.433000														11			20		0	0	0.624587	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128813986	128813986	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:128813986C>T	uc003elo.2	-	11	1133	c.878G>A	c.(877-879)aGg>aAg	p.R293K	RAB43_uc021xdo.1_Missense_Mutation_p.G73R|RAB43_uc010hsy.2_Silent_p.Q77Q|RAB43_uc003eln.2_Silent_p.Q77Q|RAB43_uc021xdp.1_Silent_p.Q77Q|RAB43_uc021xdq.1_Silent_p.Q77Q|RAB43_uc021xdr.1_Silent_p.Q77Q|RAB43_uc021xds.1_Silent_p.Q77Q	NM_001204890	NP_001191819	Q9ULR0	ISY1_HUMAN	Homo sapiens ISY1-RAB43 readthrough (ISY1-RAB43), mRNA.	0						catalytic step 2 spliceosome											GGAACCGCTCCTGGCCGGCCG	0.592000														28			14		0	0	0.608945	0	0
C10orf71	118461	broad.mit.edu	37	10	50531758	50531758	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:50531758G>A	uc021pqb.1	+	0	1168	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	C10orf71_uc021pqa.1_Missense_Mutation_p.G389R|C10orf71_uc021pqc.1_Missense_Mutation_p.G390R	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	390								p.G390R(1)		endometrium(1)	1						TGGCAAAAAAGGGAAAGAAAG	0.473000														9			22		0	0	0.608945	0	0
ZNF598	90850	broad.mit.edu	37	16	2049609	2049609	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:2049609G>A	uc002cof.1	-	10	1956	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.P11P	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	647	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGTTCCTTGGGGGCACTCC	0.716000														4			12		0	0	0.435327	0	0
ATG13	9776	broad.mit.edu	37	11	46685607	46685607	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:46685607C>T	uc001nda.3	+	10	1478	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	ATG13_uc009yld.3_Intron|ATG13_uc001ndb.3_Intron|ATG13_uc001ncz.3_Intron|ATG13_uc001ndc.3_Intron|ATG13_uc010rgv.2_Intron	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	262					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GACGGACACCCTGAGGGTCCC	0.453000														118			50		0	0	0.870114	0	0
CNTN6	27255	broad.mit.edu	37	3	1369179	1369179	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:1369179G>A	uc003boz.3	+	9	1389	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	CNTN6_uc011asj.2_Silent_p.T302T|CNTN6_uc003bpa.3_Silent_p.T374T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	374	Ig-like C2-type 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCATCATAACGATGCTGAATG	0.348000														25			21		0	0	0.693898	0	0
AFF2	2334	broad.mit.edu	37	X	148037297	148037297	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:148037297G>A	uc004fcp.3	+	10	2201	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	AFF2_uc004fcq.3_Silent_p.T564T|AFF2_uc004fcr.3_Silent_p.T535T|AFF2_uc011mxb.2_Silent_p.T539T|AFF2_uc004fcs.3_Silent_p.T541T|AFF2_uc011mxc.2_Silent_p.T215T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	574					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.T574T(3)|p.T215T(1)|p.T574M(1)		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)					AAGTGAAGACGAATGCCAGTC	0.473000														53			64		0	0	0.870114	0	0
DNA2	1763	broad.mit.edu	37	10	70225555	70225555	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:70225555G>A	uc021pru.1	-	3	714	c.714C>T	c.(712-714)gcC>gcT	p.A238A	DNA2_uc021prt.1_Silent_p.A238A|DNA2_uc001jog.2_Silent_p.A152A|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	152					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTTGGCGTGTGGCTGGATCAG	0.353000														1			6		0	0	0.307466	0	0
TRIOBP	11078	broad.mit.edu	37	22	38109300	38109300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr22:38109300C>T	uc003atr.3	+	4	609	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TRIOBP_uc003atu.3_Intron|TRIOBP_uc003atq.1_Missense_Mutation_p.P113L|TRIOBP_uc003ats.1_Intron	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	113					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.S112C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGGCAGTACCCTATCTGGAG	0.662000														62			50		0	0	0.870114	0	0
CCDC73	493860	broad.mit.edu	37	11	32697157	32697157	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:32697157G>A	uc001mtv.3	-	8	643	c.599C>T	c.(598-600)tCa>tTa	p.S200L	CCDC73_uc001mtw.1_Missense_Mutation_p.S200L	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	200										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATTTAAAGCTGAAAGTCTTTT	0.264000														2			4		0	0	0.184627	0	0
MS4A14	84689	broad.mit.edu	37	11	60164131	60164131	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:60164131C>T	uc001npj.3	+	0	645	c.80C>T	c.(79-81)cCc>cTc	p.P27L	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.P27L|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	27						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACTGCATTTCCCTACAGACCT	0.468000														3			19		0	0	0.608945	0	0
CD163	9332	broad.mit.edu	37	12	7639227	7639227	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:7639227C>T	uc001qsz.3	-	9	2454	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	CD163_uc001qta.3_Missense_Mutation_p.E776K|CD163_uc009zfw.2_Missense_Mutation_p.E809K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	776	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G775W(1)		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						CCTGTTCCTTCCCCAAAATGA	0.537000														244			10		0	0	0.457914	0	0
HLCS	3141	broad.mit.edu	37	21	38302641	38302642	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr21:38302641_38302642GA>AT	uc010gnb.3	-	5	2502_2503	c.1088_1089TC>AT	c.(1087-1089)gtc>gAT	p.V363D	HLCS_uc021wjb.1_Missense_Mutation_p.V363D|HLCS_uc002yvs.3_Missense_Mutation_p.V363D|HLCS_uc010gnc.2_Missense_Mutation_p.V510D	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	363			V -> D (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)).		cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	p.E362K(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTCTCTAAGGACTTCGTATCT	0.460000														25			11		0	0	0.115264	0	0
YIF1B	90522	broad.mit.edu	37	19	38798128	38798128	+	Silent	SNP	G	A	A	rs146100643	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:38798128G>A	uc002ohz.2	-	6	778	c.729C>T	c.(727-729)ttC>ttT	p.F243F	YIF1B_uc002ohw.2_Silent_p.F212F|YIF1B_uc002ohx.2_Silent_p.F228F|YIF1B_uc010xtx.1_Silent_p.F226F|YIF1B_uc010xty.1_Silent_p.F212F|YIF1B_uc002oia.2_Silent_p.F240F|YIF1B_uc002ohy.2_Silent_p.F240F|YIF1B_uc002oib.3_Silent_p.F240F	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	243						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAATCTTCCCGAAGAGCAGGC	0.647000														33			3		0	0	0.150653	0	0
ADAM7	8756	broad.mit.edu	37	8	24300035	24300035	+	Silent	SNP	G	A	A	rs146117431	by1000genomes	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:24300035G>A	uc003xeb.3	+	1	215	c.102G>A	c.(100-102)aaG>aaA	p.K34K	ADAM7_uc003xea.1_Silent_p.K34K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	34					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)		GTCCTAAAAAGCTTCCTCTGA	0.393000														159			65		0	0	0.870114	0	0
PRIC285	85441	broad.mit.edu	37	20	62192810	62192810	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:62192810G>A	uc002yfm.2	-	13	7738	c.6846C>T	c.(6844-6846)acC>acT	p.T2282T	PRIC285_uc002yfl.1_Silent_p.T1713T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2282					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			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)			GGTGGTGCAGGGTGATGCTCC	0.637000														107			38		0	0	0.870114	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990079	39990079	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:39990079C>T	uc002xjy.1	-	3	2354	c.2130G>A	c.(2128-2130)ctG>ctA	p.L710L		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	710						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCAAGCTGTCCAGGCCCGCGG	0.647000														10			3		0	0	0.150653	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809753	18809753	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:18809753C>A	uc001bax.3	+	0	2330	c.2278C>A	c.(2278-2280)Ctc>Atc	p.L760I	KLHDC7A_uc009vpg.3_Intron	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	760						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGCACCCTCCTGCCCAC	0.657000														56			19		2.27525e-19	2.29959e-19	0.667858	1	0
ZFAT	57623	broad.mit.edu	37	8	135614561	135614561	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:135614561G>A	uc003yup.3	-	5	1587	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZFAT_uc003yun.3_Silent_p.F455F|ZFAT_uc003yuo.3_Silent_p.F455F|ZFAT_uc010meh.3_Silent_p.F455F|ZFAT_uc010mej.3_Silent_p.F405F|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.F455F|ZFAT_uc003yur.3_Silent_p.F455F	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGAGCTGACGAACTTCTTGC	0.607000														27			10		0	0	0.435327	0	0
TTN	7273	broad.mit.edu	37	2	179467100	179467100	+	Silent	SNP	C	T	T	rs62178963	by1000genomes	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:179467100C>T	uc021vsy.1	-	231	47550	c.47325G>A	c.(47323-47325)agG>agA	p.R15775R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R9470R|TTN_uc021vta.1_Silent_p.R9403R|TTN_uc021vtb.1_Silent_p.R9278R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16702	Fibronectin type-III 14.						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)			ATCTGTACTTCCTGAGCTCTT	0.413000														47			12		0	0	0.457914	0	0
EPHA7	2045	broad.mit.edu	37	6	93956529	93956529	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:93956529G>A	uc003poe.3	-	14	2948	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	EPHA7_uc003pof.3_Missense_Mutation_p.P898S|EPHA7_uc011eac.2_Missense_Mutation_p.P899S	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	903			P -> S (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.P903S(2)		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)		GTTCCCAGGGGAGTTTTCAGA	0.403000														37			15		0	0	0.575678	0	0
MRPS23	51649	broad.mit.edu	37	17	55926750	55926751	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:55926750_55926751GG>AA	uc002ivc.3	-	1	127_128	c.65_66CC>TT	c.(64-66)gcc>gTT	p.A22V		NM_016070	NP_057154	Q9Y3D9	RT23_HUMAN	Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA.	22					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TCAGCACCCCGGCCCGAACCAG	0.579000														31			13		0	0	0.115264	0	0
RIMS1	22999	broad.mit.edu	37	6	72596752	72596752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:72596752G>A	uc003pga.3	+	0	103	c.26G>A	c.(25-27)gGt>gAt	p.G9D		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	9					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGCCCCGCGGTCCTCGCCCA	0.677000														12			10		0	0	0.411799	0	0
AMHR2	269	broad.mit.edu	37	12	53823694	53823694	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:53823694G>A	uc001scx.2	+	8	1300	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	AMHR2_uc009zmy.2_Missense_Mutation_p.R407Q|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	407	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R407*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCCTCCGACGAGCTGATATT	0.582000														31			25		0	0	0.681144	0	0
LAMB1	3912	broad.mit.edu	37	7	107601669	107601669	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:107601669G>A	uc003vev.2	-	14	2324	c.2163C>T	c.(2161-2163)ccC>ccT	p.P721P	LAMB1_uc003vew.2_Silent_p.P697P|LAMB1_uc003vex.3_Silent_p.P697P	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	697	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGCGTGTAGGGGCTCTCCA	0.557000														59			45		0	0	0.870114	0	0
PLGLA	285189	broad.mit.edu	37	2	107002800	107002800	+	RNA	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:107002800G>A	uc002tdp.3	+	0		c.32G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		GTGTCACTAAGAAGCAGCTGG	0.498000														128			41		0	0	0.859065	0	0
TJP1	7082	broad.mit.edu	37	15	30009029	30009029	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:30009029G>A	uc001zcr.3	-	22	4463	c.3988C>T	c.(3988-3990)Caa>Taa	p.Q1330*	TJP1_uc010azl.3_Nonsense_Mutation_p.Q1318*|TJP1_uc001zcq.3_Nonsense_Mutation_p.Q1254*|TJP1_uc001zcs.3_Nonsense_Mutation_p.Q1250*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1330					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGAGGTTTTTGAGGTTCTGGG	0.343000														27			33		0	0	0.853193	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626678	1626678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:1626678C>T	uc003wpl.3	+	8	2444	c.2347C>T	c.(2347-2349)Ccg>Tcg	p.P783S	DLGAP2_uc003wpm.3_Missense_Mutation_p.P769S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	862					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)		GAGGATGTCTCCGTGCCGCAG	0.597000														7			6		0	0	0.217242	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289520	7289520	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:7289520C>T	uc001qss.3	+	5	1598	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	CLSTN3_uc001qsr.3_Silent_p.L342L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	342					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGACAGCAGCCTGATCTACTG	0.642000														57			49		0	0	0.870114	0	0
SERPINI2	5276	broad.mit.edu	37	3	167167187	167167187	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:167167187G>A	uc003fes.1	-	6	1069	c.998C>T	c.(997-999)tCa>tTa	p.S333L	SERPINI2_uc003fer.1_Missense_Mutation_p.S323L|SERPINI2_uc003fet.1_Missense_Mutation_p.S323L	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	323					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						CACTTCAGATGAATCTGGTTA	0.294000														8			6		0	0	0.217242	0	0
TMEM209	84928	broad.mit.edu	37	7	129841882	129841883	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:129841882_129841883GG>AT	uc003vpn.2	-	4	503_504	c.380_381CC>AT	c.(379-381)ccc>cAT	p.P127H	TMEM209_uc010lmc.1_Missense_Mutation_p.P127H|TMEM209_uc003vpo.2_Missense_Mutation_p.P127H	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	127						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AAGGTGGAGCGGGAGGGATTTG	0.460000														38			22		0	0	0.115264	0	0
C14orf49	161176	broad.mit.edu	37	14	95932475	95932475	+	Silent	SNP	G	A	A	rs147089377		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:95932475G>A	uc001yei.4	-	2	435	c.420C>T	c.(418-420)atC>atT	p.I140I	C14orf49_uc010avi.3_Silent_p.I140I|C14orf49_uc001yej.1_Silent_p.I140I	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	140					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding	p.H139N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GCTGGAGCTCGATGTGGGGCT	0.632000														20			36		0	0	0.827153	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41005705	41005705	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:41005705C>T	uc003jmj.4	-	34	4282	c.3792G>A	c.(3790-3792)atG>atA	p.M1264I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M819I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1264							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCAGCTGTTCCATGATGTCCA	0.483000														11			15		0	0	0.575678	0	0
NLRP7	199713	broad.mit.edu	37	19	55451490	55451490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:55451490C>T	uc002qih.4	-	3	773	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	NLRP7_uc010esk.3_Missense_Mutation_p.E233K|NLRP7_uc002qig.4_Missense_Mutation_p.E233K|NLRP7_uc002qii.4_Missense_Mutation_p.E233K|NLRP7_uc010esl.3_Missense_Mutation_p.E261K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	233	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCTGCAATTCAGGCCAGTCT	0.567000														41			57		0	0	0.870114	0	0
ZNF714	148206	broad.mit.edu	37	19	21300028	21300028	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:21300028C>T	uc002npo.4	+	4	936	c.558C>T	c.(556-558)acC>acT	p.T186T	ZNF714_uc002npl.3_Silent_p.T32T|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GGTTCTCAACCCTTACTAGAC	0.368000														31			23		0	0	0.667858	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:45458398C>T	uc001rol.3	-	0		c.797G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TACCTGTTTTCCTTTGGCTCC	0.522000														15			8		0	0	0.387290	0	0
LRP1B	53353	broad.mit.edu	37	2	141625352	141625352	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:141625352G>A	uc002tvj.1	-	26	5358	c.4386C>T	c.(4384-4386)atC>atT	p.I1462I	LRP1B_uc010fnl.1_Silent_p.I644I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1462					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)		GACCTCGGATGATTTCTATCA	0.408000										TSP Lung(27;0.18)				32			37		0	0	0.853193	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195936311	195936311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:195936311G>A	uc003fwc.3	-	2	458	c.344C>T	c.(343-345)cCa>cTa	p.P115L	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	115						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCAGCACTTTGGACACCATTG	0.657000														13			8		0	0	0.361761	0	0
SPANXE	171489	broad.mit.edu	37	X	140785720	140785720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:140785720C>T	uc004fbq.3	-	1	289	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	66						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TTCACCAGTTCCTCTGGAGAT	0.458000														118			5		0	0	0.184627	0	0
NOP58	51602	broad.mit.edu	37	2	203160481	203160481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:203160481C>T	uc002uzb.3	+	9	1142	c.992C>T	c.(991-993)tCt>tTt	p.S331F		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	331	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GCCCTCAAATCTAGACGGGAT	0.428000														30			36		0	0	0.812448	0	0
TMEM35	59353	broad.mit.edu	37	X	100349862	100349862	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:100349862G>A	uc004egw.3	+	1	577	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	141						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CCGGTCTTCTGAGAAGAAGCC	0.537000														24			19		0	0	0.624587	0	0
CDC25B	994	broad.mit.edu	37	20	3779059	3779059	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:3779059G>A	uc002wjn.3	+	3	1107	c.329_splice	c.e3-1	p.G110_splice	CDC25B_uc010zqk.2_Splice_Site_p.G46_splice|CDC25B_uc010zql.2_Splice_Site_p.G32_splice|CDC25B_uc010zqm.2_Splice_Site_p.G46_splice|CDC25B_uc002wjl.3_Splice_Site|CDC25B_uc002wjm.3_Splice_Site|CDC25B_uc021waa.1_Splice_Site|CDC25B_uc002wjo.3_Splice_Site_p.G96_splice|CDC25B_uc002wjp.3_Splice_Site_p.G110_splice|CDC25B_uc002wjq.3_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	110					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GTCCCCTCAGGTCTCTGCATG	0.463000														98			45		0	0	0.870114	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221094	8221094	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:8221094C>T	uc003gkv.4	+	8	1050	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	SH3TC1_uc003gkw.4_Nonsense_Mutation_p.Q241*|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	317	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCAGACTTCCAGGGCTCGGG	0.677000														33			20		0	0	0.693898	0	0
KCNH4	23415	broad.mit.edu	37	17	40315707	40315707	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:40315707G>A	uc002hzb.2	-	12	2727	c.2394C>T	c.(2392-2394)ccC>ccT	p.P798P		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	798					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	p.G797R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCACCTGGGGGGGCCGTGAG	0.667000														7			12		0	0	0.520397	0	0
MINK1	50488	broad.mit.edu	37	17	4788861	4788861	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:4788861G>A	uc010vsl.2	+	6	836	c.592G>A	c.(592-594)Gag>Aag	p.E198K	MINK1_uc010vsk.2_Missense_Mutation_p.E198K|MINK1_uc010vsm.2_Missense_Mutation_p.E198K|MINK1_uc010vsn.2_Missense_Mutation_p.E198K|MINK1_uc010vso.2_Missense_Mutation_p.E143K|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	198	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GATGGCTCCAGAGGTCATCGC	0.557000														63			26		0	0	0.717897	0	0
CUX2	23316	broad.mit.edu	37	12	111785825	111785825	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:111785825C>T	uc001tsa.2	+	21	4311	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1386	Pro-rich.					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						GCCTCAGAGTCCTCACGCTGC	0.612000														40			14		0	0	0.500413	0	0
OR1J1	347168	broad.mit.edu	37	9	125239735	125239735	+	Silent	SNP	A	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:125239735A>C	uc011lyu.2	-	0	471	c.471T>G	c.(469-471)ctT>ctG	p.L157L	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157F(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGGTATGCAAAAGAGCACACG	0.547000														5			10		0	0	0.387290	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242640	60242640	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:60242640C>T	uc002lip.4	+	12	3326	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P579L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1109					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGATTCTATCCTGTATATCCA	0.493000														12			8		0	0	0.335167	0	0
ALPK2	115701	broad.mit.edu	37	18	56203089	56203089	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:56203089C>T	uc002lhj.4	-	4	4544	c.4330G>A	c.(4330-4332)Gaa>Aaa	p.E1444K	ALPK2_uc002lhk.1_Missense_Mutation_p.E775K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1444							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTTCCGCTTCGTGGCCCATG	0.512000														24			11		0	0	0.479597	0	0
KCNK7	10089	broad.mit.edu	37	11	65363008	65363008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:65363008G>A	uc001oes.3	-	0	460	c.236C>T	c.(235-237)tCc>tTc	p.S79F	KCNK7_uc001oeq.3_Missense_Mutation_p.S79F|KCNK7_uc001oer.3_Missense_Mutation_p.S79F|KCNK7_uc001oeu.3_Missense_Mutation_p.S79F	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	Homo sapiens potassium channel, subfamily K, member 7 (KCNK7), transcript variant A, mRNA.	79						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						GCCCAGGGTGGAGACCCCATG	0.667000														2			9		0	0	0.387290	0	0
FAM166A	401565	broad.mit.edu	37	9	140139596	140139596	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:140139596G>A	uc004cmi.1	-	3	652	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	Homo sapiens family with sequence similarity 166, member A (FAM166A), mRNA.	199										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCAGCCGCTGGAAGCTGCCCA	0.677000														12			31		0	0	0.779181	0	0
KCNB2	9312	broad.mit.edu	37	8	73480322	73480322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:73480322C>T	uc003xzb.3	+	1	941	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	118					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S118L(2)		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)			TGTGCACTTTCGTTTGGCCAA	0.423000														29			24		0	0	0.693898	0	0
CORIN	10699	broad.mit.edu	37	4	47746434	47746434	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:47746434C>T	uc003gxm.3	-	4	877	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CORIN_uc011bzf.2_Missense_Mutation_p.E123K|CORIN_uc011bzg.2_Missense_Mutation_p.E195K|CORIN_uc011bzh.1_Missense_Mutation_p.E262K|CORIN_uc011bzi.1_Missense_Mutation_p.E262K|CORIN_uc003gxn.4_Missense_Mutation_p.E262K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	262					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						TTTCCGTTTTCCTGCTGAGGT	0.378000														19			51		0	0	0.870114	0	0
TUBE1	51175	broad.mit.edu	37	6	112393216	112393216	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:112393216G>A	uc003pvq.3	-	10	1272	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	386					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAGGAGGTACGGAACACAGGC	0.413000														46			27		0	0	0.827153	0	0
DAGLA	747	broad.mit.edu	37	11	61503050	61503050	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:61503050C>T	uc001nsa.3	+	10	1262	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	382					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AAACGCCCTTCTACGTGGCGG	0.637000														4			22		0	0	0.693898	0	0
CWC27	10283	broad.mit.edu	37	5	64079668	64079668	+	Silent	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:64079668A>G	uc003jtn.1	+	3	477	c.258A>G	c.(256-258)gaA>gaG	p.E86E	CWC27_uc003jtl.3_Silent_p.E86E|CWC27_uc003jtm.3_Silent_p.E86E|CWC27_uc010iwt.1_Silent_p.E86E	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	86	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TTCAGGATGAATTTCATTCAC	0.413000														36			94		0	0	0.870114	0	0
SNX17	9784	broad.mit.edu	37	2	27596815	27596815	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:27596815G>A	uc002rkg.1	+	4	631	c.409G>A	c.(409-411)Gat>Aat	p.D137N	SNX17_uc010ylj.1_Missense_Mutation_p.D117N|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Missense_Mutation_p.D125N|SNX17_uc010ylo.1_Missense_Mutation_p.D55N|SNX17_uc010ylp.1_Missense_Mutation_p.D112N|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc010ylq.1_5'UTR	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	137	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAACTTCAGATCAGACTGA	0.557000														22			34		0	0	0.812448	0	0
SCN3A	6328	broad.mit.edu	37	2	165984456	165984456	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:165984456G>A	uc002ucx.3	-	17	3570	c.3078C>T	c.(3076-3078)ttC>ttT	p.F1026F	SCN3A_uc002ucy.3_Silent_p.F977F|SCN3A_uc002ucz.3_Silent_p.F977F|SCN3A_uc002uda.1_Silent_p.F846F|SCN3A_uc002udb.1_Silent_p.F846F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1026						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)	AGGCTTTTTGGAAACACTCCC	0.348000														25			24		0	0	0.693898	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123448281	123448281	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:123448281C>T	uc001pyw.2	+	1	559	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GRAMD1B_uc001pyx.2_Missense_Mutation_p.S77F|GRAMD1B_uc010rzw.2_Missense_Mutation_p.S37F|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S37F|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S73F	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	77						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGCAAGAATTCCAAGGTGAGC	0.662000											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			3		0	0	0.150653	0	0
BTBD2	55643	broad.mit.edu	37	19	1986899	1986899	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:1986899A>C	uc002lup.1	-	7	1346	c.1346T>G	c.(1345-1347)tTc>tGc	p.F449C	BTBD2_uc002luo.1_Missense_Mutation_p.F128C	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	449						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		CATGACGCGGAAGGTGCTGGC	0.642000														48			5		0	0	0.184627	0	0
OR5T2	219464	broad.mit.edu	37	11	56000318	56000318	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:56000318A>C	uc010rjc.2	-	0	344	c.344T>G	c.(343-345)gTt>gGt	p.V115G		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	115					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)					TGGGGTAATAACTGAGGAATA	0.388000														14			23		0	0	0.667858	0	0
XIRP2	129446	broad.mit.edu	37	2	167992518	167992518	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:167992518G>A	uc002udx.3	+	2	597	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	XIRP2_uc010fpn.3_Missense_Mutation_p.E170K|XIRP2_uc010fpo.3_Missense_Mutation_p.E170K|XIRP2_uc002udy.3_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					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						GAAAGGCAAGGAAACATCTTT	0.438000														56			21		0	0	0.639603	0	0
BRPF3	27154	broad.mit.edu	37	6	36177996	36177996	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:36177996C>T	uc003olv.4	+	5	2094	c.1870C>T	c.(1870-1872)Cca>Tca	p.P624S	BRPF3_uc010jwb.3_Missense_Mutation_p.P624S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.P624S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	624	Bromo.				histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGTTTAGGTTCCAGATTACCT	0.438000														13			8		0	0	0.361761	0	0
STAP1	26228	broad.mit.edu	37	4	68459042	68459042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:68459042G>A	uc003hde.4	+	7	876	c.794G>A	c.(793-795)aGa>aAa	p.R265K	STAP1_uc003hdf.3_Missense_Mutation_p.R265K	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	265	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GGAAATTTAAGACCATTTATA	0.338000														17			34		0	0	0.840704	0	0
BRCA1	672	broad.mit.edu	37	17	41244176	41244176	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:41244176G>A	uc002icq.3	-	9	3604	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Silent_p.F1053F|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Silent_p.F1077F|BRCA1_uc002ict.3_Silent_p.F1124F|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Silent_p.F1124F|BRCA1_uc002ide.1_Silent_p.F955F|BRCA1_uc010cyy.1_Silent_p.F1124F|BRCA1_uc010whs.1_Silent_p.F1124F|BRCA1_uc010cyz.2_Silent_p.F1077F|BRCA1_uc010cza.2_Silent_p.F1098F|BRCA1_uc010wht.1_Silent_p.F828F	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1124					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)		GATATGGAGAGAAATCTGTAT	0.373000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				31			42		0	0	0.864702	0	0
GPS2	2874	broad.mit.edu	37	17	7227009	7227009	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:7227009G>A	uc002gga.1	-	12	2302	c.2295C>T	c.(2293-2295)gtC>gtT	p.V765V	GPS2_uc002ggb.1_Silent_p.V765V|GPS2_uc002ggc.1_Silent_p.V111V	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TCTTCTGAATGACAATTTCAA	0.602000														6			10		0	0	0.387290	0	0
FSD1	79187	broad.mit.edu	37	19	4311969	4311969	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:4311969C>T	uc002lzy.2	+	6	774	c.621C>T	c.(619-621)ttC>ttT	p.F207F	FSD1_uc002maa.2_Silent_p.F20F	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	207	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCAACTTCGAGGGCCCGC	0.622000														11			18		0	0	0.557998	0	0
DRD1	1812	broad.mit.edu	37	5	174869909	174869909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:174869909G>A	uc003mcz.3	-	1	1139	c.194C>T	c.(193-195)tCc>tTc	p.S65F	DRD1_uc021yia.1_Missense_Mutation_p.S65F	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	65					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CACAGCCAAGGAGATGACAAA	0.572000														6			24		0	0	0.693898	0	0
CDH4	1002	broad.mit.edu	37	20	60348129	60348129	+	Missense_Mutation	SNP	C	T	T	rs145462500		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:60348129C>T	uc002ybn.2	+	3	555	c.467C>T	c.(466-468)cCc>cTc	p.P156L	CDH4_uc002ybr.2_Missense_Mutation_p.P119L|CDH4_uc002ybp.2_Missense_Mutation_p.P82L	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	156					adherens junction organization|cell junction assembly		calcium ion binding	p.W155fs*46(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTGCCGTGGCCCCAGCACCAG	0.652000														10			8		0	0	0.335167	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024677	55024677	+	Missense_Mutation	SNP	G	A	A	rs145545626		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:55024677G>A	uc002lgn.3	+	2	1193	c.836G>A	c.(835-837)gGa>gAa	p.G279E		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	279					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G279E(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCTTGGCCGGGAAATATAATG	0.408000														58			40		0	0	0.870114	0	0
BMP6	654	broad.mit.edu	37	6	7880313	7880313	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:7880313C>A	uc003mxu.4	+	5	1549	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	457					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					ATGCAACCAACCACGCGATTG	0.483000														103			48		2.2129e-31	2.23956e-31	0.870114	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100537692	100537692	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:100537692G>A	uc002bvv.1	-	18	2773	c.2694C>T	c.(2692-2694)gtC>gtT	p.V898V		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	898	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCCGCGTAGCGACGTGTGTGC	0.692000														11			5		0	0	0.278610	0	0
SVOPL	136306	broad.mit.edu	37	7	138281185	138281185	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:138281185C>T	uc011kqh.2	-	13	1444	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	SVOPL_uc003vue.3_Missense_Mutation_p.E330K	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	482						integral to membrane	transmembrane transporter activity	p.E330K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTTTGGTTTCGATGGGGAGA	0.488000														31			29		0	0	0.812448	0	0
DSC2	1824	broad.mit.edu	37	18	28651784	28651784	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:28651784G>A	uc002kwl.4	-	12	2366	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	DSC2_uc002kwk.4_Nonsense_Mutation_p.Q638*	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	638	Cadherin 5.		Q -> H.		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGATCATTCTGATAGGAAAGA	0.348000														23			17		0	0	0.624587	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186097	127186097	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:127186097C>T	uc004eum.3	-	0	286	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	30						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGGCGGGGTCCAATCTCTCC	0.448000														15			17		0	0	0.557998	0	0
OR3A1	4994	broad.mit.edu	37	17	3195151	3195151	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:3195151G>A	uc002fvh.1	-	0	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGCCACATGTGGAGAAGGCTT	0.498000														29			19		0	0	0.592651	0	0
SAMD9	54809	broad.mit.edu	37	7	92731309	92731309	+	Missense_Mutation	SNP	C	T	T	rs138600971	byFrequency	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:92731309C>T	uc003umf.3	-	2	4372	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	SAMD9_uc003umg.3_Missense_Mutation_p.E1368K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1368K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1368						cytoplasm		p.E1368K(2)		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)			AAAGTATATTCGTTCACTATA	0.348000														45			36		0	0	0.827153	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221207	47221207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:47221207C>T	uc003oyv.3	-	3	1727	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	432	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGATAGATATCTTTCCACTGG	0.488000														12			8		0	0	0.307466	0	0
DSG4	147409	broad.mit.edu	37	18	28968463	28968463	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:28968463G>A	uc002kwr.2	+	3	485	c.350G>A	c.(349-351)aGa>aAa	p.R117K	DSG4_uc002kwq.2_Missense_Mutation_p.R117K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	117	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGGTAGACAGAGAAATAACT	0.358000														27			11		0	0	0.479597	0	0
RSAD1	55316	broad.mit.edu	37	17	48557289	48557289	+	Silent	SNP	C	T	T	rs11555806		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:48557289C>T	uc002iqw.1	+	2	374	c.318C>T	c.(316-318)ccC>ccT	p.P106P	RSAD1_uc010wmp.2_Silent_p.P106P|RSAD1_uc010wmq.1_Intron	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	106					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TAGCCAGTCCCCACACGGTGG	0.607000											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			11		0	0	0.457914	0	0
TRPM6	140803	broad.mit.edu	37	9	77343174	77343174	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:77343174G>A	uc004ajl.1	-	37	6154	c.5916C>T	c.(5914-5916)tgC>tgT	p.C1972C	TRPM6_uc004ajk.1_Silent_p.C1967C|TRPM6_uc022bib.1_Silent_p.C1967C|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.C923C|TRPM6_uc010mpd.1_Silent_p.C805C|TRPM6_uc010mpe.1_Silent_p.C519C|TRPM6_uc004ajj.1_Silent_p.C928C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1972	Alpha-type protein kinase.				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						TGAGCTTCCGGCAGCAGGAGT	0.403000														11			44		0	0	0.870114	0	0
TRRAP	8295	broad.mit.edu	37	7	98573802	98573802	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:98573802C>T	uc003upp.3	+	52	8058	c.7849C>T	c.(7849-7851)Ctg>Ttg	p.L2617L	TRRAP_uc011kis.2_Silent_p.L2599L|TRRAP_uc003upr.3_Silent_p.L2316L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2617					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCGTTCAGCTGTGCCACAT	0.562000														41			25		0	0	0.654019	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552409	1552409	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:1552409C>T	uc010gai.3	-	2	807	c.708G>A	c.(706-708)ggG>ggA	p.G236G	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	236	Ig-like C1-type 1.				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						GAAGAGGGTCCCCCTGCAAGG	0.612000														88			22		0	0	0.667858	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47219493	47219493	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:47219493G>A	uc002ion.2	+	2	551	c.492G>A	c.(490-492)gtG>gtA	p.V164V	B4GALNT2_uc010wlt.1_Silent_p.V78V|B4GALNT2_uc010wlu.1_Silent_p.V104V	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	164					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)			TCCCAGCGGTGAAAGCGAGGA	0.512000														83			22		0	0	0.681144	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				42			91		0	0	0.870114	0	0
IFNA14	3448	broad.mit.edu	37	9	21239422	21239422	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:21239422G>A	uc010mis.3	-	0	557	c.513C>T	c.(511-513)atC>atT	p.I171I	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGGATCTCATGATTTCTGCTC	0.393000														101			156		0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13862838	13862838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:13862838C>T	uc003jfd.2	-	28	4657	c.4615G>A	c.(4615-4617)Gtg>Atg	p.V1539M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1539	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1538V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTCTTTCACCGCACTGATA	0.428000									Kartagener syndrome					29			55		0	0	0.870114	0	0
CCBE1	147372	broad.mit.edu	37	18	57107031	57107031	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:57107031C>G	uc002lib.3	-	7	863	c.793G>C	c.(793-795)Gga>Cga	p.G265R	CCBE1_uc010dpq.3_Intron|CCBE1_uc002lia.3_Missense_Mutation_p.G118R	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	265	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCTGGGCTTCCCTTTGGTCCT	0.587000														8			3		0	0	0.184627	0	0
CSF3R	1441	broad.mit.edu	37	1	36932012	36932012	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:36932012G>A	uc001caw.2	-	16	3041	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Intron|CSF3R_uc001cax.2_Silent_p.F846F	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	819					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCAGGAGGGGGAAGTTGAGCA	0.632000														5			8		0	0	0.387290	0	0
PEX6	5190	broad.mit.edu	37	6	42946034	42946034	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:42946034G>A	uc003otf.3	-	0	948	c.855C>T	c.(853-855)ccC>ccT	p.P285P	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	285					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCATTTCCAGGGGGTCACAGC	0.537000														29			20		0	0	0.667858	0	0
IGSF1	3547	broad.mit.edu	37	X	130409260	130409260	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:130409260C>T	uc004ewe.4	-	17	3483	c.3200_splice	c.e17-1	p.G1067_splice	IGSF1_uc004ewd.3_Splice_Site_p.G1062_splice|IGSF1_uc022cdv.1_Splice_Site_p.G1053_splice|IGSF1_uc004ewf.2_Splice_Site_p.G1042_splice	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1062	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						GGGGAGTAAGCCTGGAAGAAA	0.522000														45			7		0	0	0.248553	0	0
CNTN2	6900	broad.mit.edu	37	1	205041148	205041148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:205041148C>T	uc001hbr.3	+	19	2887	c.2618C>T	c.(2617-2619)gCc>gTc	p.A873V	CNTN2_uc001hbq.1_Missense_Mutation_p.A764V|CNTN2_uc001hbs.3_Missense_Mutation_p.A661V	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	873	Fibronectin type-III 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GACACCAGTGCCCGAGTCAGC	0.647000														11			35		0	0	0.840704	0	0
A2M	2	broad.mit.edu	37	12	9262479	9262479	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:9262479G>A	uc001qvk.1	-	5	770	c.657C>T	c.(655-657)ttC>ttT	p.F219F	A2M_uc009zgk.1_Silent_p.F69F	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	219					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTCCACGGTGAAAGGGTGCT	0.428000														61			52		0	0	0.870114	0	0
CD209	30835	broad.mit.edu	37	19	7810561	7810561	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:7810561G>A	uc002mht.2	-	3	658	c.591C>T	c.(589-591)acC>acT	p.T197T	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	197	7 X approximate tandem repeats.				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						CCTTCAGCCGGGTCAGCTCCT	0.567000														80			4		0	0	0.217242	0	0
CD96	10225	broad.mit.edu	37	3	111319573	111319573	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:111319573G>A	uc003dxw.3	+	8	1117	c.947_splice	c.e8-1	p.G316_splice	CD96_uc003dxv.3_Splice_Site_p.G300_splice|CD96_uc003dxx.3_Splice_Site_p.G300_splice|CD96_uc010hpy.1_Splice_Site_p.G300_splice	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	316	Ig-like C2-type.				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						TGTCTGGCAGGAATATATATT	0.363000									Opitz Trigonocephaly syndrome					44			16		0	0	0.624587	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094904	139094904	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:139094904C>T	uc003qie.3	+	0	248	c.93C>T	c.(91-93)ttC>ttT	p.F31F	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	31										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TACGTCACTTCCGTAAACAAA	0.642000														86			41		0	0	0.870114	0	0
UHRF1	29128	broad.mit.edu	37	19	4954832	4954832	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:4954832C>T	uc002mbp.3	+	15	2459	c.2166_splice	c.e15+1	p.P722_splice	UHRF1_uc002mbo.3_Splice_Site_p.P709_splice|UHRF1_uc010xik.2_Splice_Site|UHRF1_uc010duf.3_Splice_Site	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	710					DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AGCGGCAGCCCGGTAGGCTCG	0.597000														26			7		0	0	0.387290	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649268	48649268	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:48649268G>A	uc002irk.1	+	4	988	c.616G>A	c.(616-618)Gat>Aat	p.D206N	CACNA1G_uc002iri.1_Missense_Mutation_p.D206N|CACNA1G_uc002irj.1_Missense_Mutation_p.D206N|CACNA1G_uc002irl.1_Missense_Mutation_p.D206N|CACNA1G_uc002irm.1_Missense_Mutation_p.D206N|CACNA1G_uc002irn.1_Missense_Mutation_p.D206N|CACNA1G_uc002iro.1_Missense_Mutation_p.D206N|CACNA1G_uc002irp.1_Missense_Mutation_p.D206N|CACNA1G_uc002irq.1_Missense_Mutation_p.D206N|CACNA1G_uc002irr.1_Missense_Mutation_p.D206N|CACNA1G_uc002irs.1_Missense_Mutation_p.D206N|CACNA1G_uc002irt.1_Missense_Mutation_p.D206N|CACNA1G_uc002iru.1_Missense_Mutation_p.D206N|CACNA1G_uc002irv.1_Missense_Mutation_p.D206N|CACNA1G_uc002irw.1_Missense_Mutation_p.D206N|CACNA1G_uc002irx.1_Missense_Mutation_p.D119N|CACNA1G_uc002iry.1_Missense_Mutation_p.D119N|CACNA1G_uc002isg.1_Missense_Mutation_p.D119N|CACNA1G_uc002ish.1_Missense_Mutation_p.D119N|CACNA1G_uc002isi.1_Missense_Mutation_p.D119N|CACNA1G_uc002irz.1_Missense_Mutation_p.D119N|CACNA1G_uc002isa.1_Missense_Mutation_p.D119N|CACNA1G_uc002isd.1_Missense_Mutation_p.D119N|CACNA1G_uc002isb.1_Missense_Mutation_p.D119N|CACNA1G_uc002isc.1_Missense_Mutation_p.D119N|CACNA1G_uc002ise.1_Missense_Mutation_p.D119N|CACNA1G_uc002isf.1_Missense_Mutation_p.D119N	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	206					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTGCTGCTGGATACGCTGCC	0.647000														54			20		0	0	0.717897	0	0
KIF17	57576	broad.mit.edu	37	1	20992747	20992747	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:20992747C>T	uc001bdr.4	-	13	2989	c.2871G>A	c.(2869-2871)cgG>cgA	p.R957R	KIF17_uc001bdp.4_Silent_p.R234R|KIF17_uc009vpx.3_Silent_p.R327R|KIF17_uc001bds.4_Silent_p.R956R	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	957				R -> W (in Ref. 1; AAR33039 and 4; BAA92643).	microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTGGCTGGCCCGCTTAGATC	0.597000														22			65		0	0	0.870114	0	0
PAOX	196743	broad.mit.edu	37	10	135195147	135195147	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:135195147C>T	uc001lmv.3	+	2	932	c.852C>T	c.(850-852)atC>atT	p.I284I	PAOX_uc001lmx.3_Silent_p.I284I|PAOX_uc001lmy.3_Silent_p.I284I|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Non-coding_Transcript	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	422					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACCATGTCATCGTCACCGTGC	0.617000														15			31		0	0	0.804634	0	0
BEND2	139105	broad.mit.edu	37	X	18221933	18221933	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:18221933C>T	uc004cyj.4	-	4	749	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	BEND2_uc010nfb.2_Missense_Mutation_p.E199K	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	199										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGGTCTGCTTCCTGCAGTTCA	0.488000														60			45		0	0	0.870114	0	0
LEKR1	389170	broad.mit.edu	37	3	156763413	156763413	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:156763413G>A	uc021xgh.1	+	12	2067	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGATAAGCCGAAGAGGGTTA	0.532000														70			71		0	0	0.870114	0	0
ZNF718	255403	broad.mit.edu	37	4	86669	86669	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:86669G>A	uc003fzv.1	+	5	1377	c.1221G>A	c.(1219-1221)acG>acA	p.T407T	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Silent_p.T193T|ZNF718_uc011but.1_Silent_p.T193T	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	424					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)		AACCCTACACGTGCGAAGAAT	0.393000														38			5		0	0	0.184627	0	0
ZNF30	90075	broad.mit.edu	37	19	35434914	35434914	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:35434914A>T	uc010edq.1	+	4	1425	c.1047A>T	c.(1045-1047)gaA>gaT	p.E349D	ZNF30_uc002nxf.2_Missense_Mutation_p.E267D|ZNF30_uc010edp.1_Missense_Mutation_p.E348D|ZNF30_uc010edr.1_Missense_Mutation_p.E349D	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AATGTAAGGAATGTGGAAAGG	0.443000														44			6		0	0	0.248553	0	0
CD209	30835	broad.mit.edu	37	19	7810698	7810698	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:7810698A>G	uc002mht.2	-	3	521	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.W128R|CD209_uc002mhr.2_Missense_Mutation_p.W128R|CD209_uc002mhs.2_Missense_Mutation_p.W128R|CD209_uc002mhu.2_Missense_Mutation_p.W152R|CD209_uc010dvq.2_Missense_Mutation_p.W152R|CD209_uc002mhq.2_Missense_Mutation_p.W152R|CD209_uc002mhv.2_Missense_Mutation_p.W128R|CD209_uc002mhx.2_Missense_Mutation_p.W108R|CD209_uc002mhw.2_Missense_Mutation_p.W108R|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	152	7 X approximate tandem repeats.				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	p.W152R(6)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCAGGTCAGCTCC	0.557000														141			5		0	0	0.217242	0	0
C20orf96	140680	broad.mit.edu	37	20	259840	259840	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:259840G>A	uc002wde.2	-	4	606	c.438C>T	c.(436-438)gcC>gcT	p.A146A	C20orf96_uc021vzl.1_Silent_p.A145A|C20orf96_uc010zpi.2_Silent_p.A93A|C20orf96_uc010zpj.1_Silent_p.A111A|C20orf96_uc010zpk.2_Silent_p.A84A	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	146										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTGCAGCAGGGCCCGCACGT	0.677000														37			7		0	0	0.361761	0	0
SPTBN2	6712	broad.mit.edu	37	11	66458874	66458874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:66458874G>A	uc001ojd.3	-	25	5518	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1816					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGCACCCGCGCCAGGGCT	0.692000														7			17		0	0	0.539581	0	0
AQR	9716	broad.mit.edu	37	15	35176814	35176814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:35176814G>A	uc001ziv.3	-	25	3120	c.2939C>T	c.(2938-2940)cCc>cTc	p.P980L		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	980						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTTAAAAATGGGTTGAGGAGC	0.368000														25			19		0	0	0.557998	0	0
SEMA4B	10509	broad.mit.edu	37	15	90768389	90768390	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:90768389_90768390GA>AT	uc002boy.3	+	10	1667_1668	c.1384_1385GA>AT	c.(1384-1386)gat>ATt	p.D462I	SEMA4B_uc002boz.3_Missense_Mutation_p.D462I|SEMA4B_uc010uqd.2_Missense_Mutation_p.D300I|SEMA4B_uc002bpa.3_Missense_Mutation_p.D300I	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCACACCTACGATGTCCTCTTC	0.673000														2			7		0	0	0.115264	0	0
MUC16	94025	broad.mit.edu	37	19	9089550	9089550	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:9089550C>T	uc002mkp.3	-	0	2469	c.2265G>A	c.(2263-2265)ggG>ggA	p.G755G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	755	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						TTTCAGGAGTCCCTGTGGTAA	0.473000														41			51		0	0	0.870114	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501321	90501321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr9:90501321C>T	uc004app.4	+	3	1954	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F	FAM75E1_uc004apo.1_Missense_Mutation_p.S452F	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	640						integral to membrane		p.S640Y(1)									CAGGAGCAGTCCTGTGGCCCT	0.632000														11			16		0	0	0.479597	0	0
ZFP90	146198	broad.mit.edu	37	16	68597632	68597632	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:68597632C>T	uc010cff.3	+	4	1234	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ZFP90_uc002ewb.3_Missense_Mutation_p.S120F|ZFP90_uc002ewc.3_Missense_Mutation_p.S120F|ZFP90_uc002ewd.3_Silent_p.L314L|ZFP90_uc002ewe.3_Silent_p.L314L	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	314					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGTGTAGTCTCTGTGGGAAAG	0.483000														12			28		0	0	0.750413	0	0
OR6C6	283365	broad.mit.edu	37	12	55688524	55688524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:55688524C>T	uc010sph.2	-	0	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	165					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						GCACAAAAATCCAGCTTGAGT	0.403000														38			28		0	0	0.769981	0	0
OR11H12	440153	broad.mit.edu	37	14	19378555	19378555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr14:19378555G>A	uc010tkp.2	+	0	962	c.962G>A	c.(961-963)gGa>gAa	p.G321E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAGTTCTGGGAAGTTCCAAC	0.363000														30			59		0	0	0.870114	0	0
FLNC	2318	broad.mit.edu	37	7	128480673	128480673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:128480673G>A	uc003vnz.4	+	9	1830	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	FLNC_uc003voa.4_Missense_Mutation_p.V541M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	541					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						CTACCCGGTGGTGCCTGGGAA	0.632000														180			127		0	0	0.870114	0	0
ARSK	153642	broad.mit.edu	37	5	94927309	94927309	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr5:94927309A>G	uc003kld.3	+	5	1234	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	ARSK_uc010jbg.3_Missense_Mutation_p.D200G|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	359						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTCTTGTGGATATTTACCCT	0.393000														18			59		0	0	0.870114	0	0
EDN3	1908	broad.mit.edu	37	20	57876727	57876727	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr20:57876727G>A	uc002yap.3	+	1	684	c.315G>A	c.(313-315)aaG>aaA	p.K105K	EDN3_uc002yao.1_Silent_p.K105K|EDN3_uc002yaq.3_Silent_p.K105K|EDN3_uc002yar.3_Silent_p.K105K|EDN3_uc002yas.3_Silent_p.K105K	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	105					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					ACAAGGACAAGGAGTGTGTCT	0.612000														59			64		0	0	0.870114	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185188	127185188	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:127185188G>A	uc004eum.3	-	0	1195	c.998C>T	c.(997-999)tCt>tTt	p.S333F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	333						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCTATCAGGAGAAGCTGTGAT	0.527000														32			4		0	0	0.184627	0	0
SLC12A6	9990	broad.mit.edu	37	15	34551109	34551109	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:34551109G>A	uc001zhw.3	-	3	612	c.448C>T	c.(448-450)Ctc>Ttc	p.L150F	SLC12A6_uc001zhv.3_Missense_Mutation_p.L99F|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.L135F|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.L91F|SLC12A6_uc001zib.3_Missense_Mutation_p.L141F|SLC12A6_uc001zic.3_Missense_Mutation_p.L150F|SLC12A6_uc010bau.3_Missense_Mutation_p.L150F|SLC12A6_uc001zid.3_Missense_Mutation_p.L91F|SLC12A6_uc001zhu.3_Missense_Mutation_p.L11F	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	150					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ATGCGGTTGAGGAGGGAAGAC	0.433000														26			11		0	0	0.411799	0	0
DNAH7	56171	broad.mit.edu	37	2	196753694	196753694	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:196753694C>T	uc002utj.4	-	31	5159	c.5058G>A	c.(5056-5058)agG>agA	p.R1686R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1686	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAACCATTTCCTATCTGGAG	0.348000														92			25		0	0	0.796494	0	0
LARP4B	23185	broad.mit.edu	37	10	859098	859098	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr10:859098G>A	uc001ifs.1	-	16	2026	c.1985C>T	c.(1984-1986)cCt>cTt	p.P662L		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	662							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGGGGAAGAAGGAGGCTCTTT	0.498000														5			16		0	0	0.520397	0	0
USP21	27005	broad.mit.edu	37	1	161130686	161130686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr1:161130686C>T	uc010pkc.2	+	2	633	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	USP21_uc010pkd.2_Missense_Mutation_p.H86Y	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	86					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCGAGCAGATCATGGGGTTCC	0.637000														7			26		0	0	0.729181	0	0
CT47B1	643311	broad.mit.edu	37	X	120008801	120008801	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:120008801C>T	uc011muc.2	-	0	979	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	242								p.K235_E243delKLTEEATEE(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCGGTtcctctgtggcctcc	0.682000														80			9		0	0	0.361761	0	0
FREM2	341640	broad.mit.edu	37	13	39433567	39433567	+	Silent	SNP	G	A	A	rs115054860	by1000genomes	TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr13:39433567G>A	uc001uwv.3	+	13	7668	c.7359G>A	c.(7357-7359)gtG>gtA	p.V2453V	FREM2_uc001uww.3_Silent_p.V539V	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2453					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)		TGAGAGAAGTGGACTTCGACA	0.537000														61			5		0	0	0.278610	0	0
MYH2	4620	broad.mit.edu	37	17	10429959	10429959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:10429959C>T	uc010coi.3	-	29	4272	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1382K|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.	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y1381C(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						GCGTCCGTCTCGTATTTGGTC	0.532000														91			91		0	0	0.870114	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973775	120973775	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr3:120973775C>T	uc003eec.4	+	15	1615	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	STXBP5L_uc011bji.2_Missense_Mutation_p.S492L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	492					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)		CTAAAAACTTCAAAAGTGTTT	0.338000														10			24		0	0	0.693898	0	0
POLR2A	5430	broad.mit.edu	37	17	7417412	7417412	+	Silent	SNP	T	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:7417412T>C	uc002ghf.4	+	28	6215	c.5829T>C	c.(5827-5829)acT>acC	p.T1943T		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1943	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACTCTCCCACTTCCCCTGGTT	0.632000														33			31		0	0	0.834066	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165108	87165108	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:87165108A>C	uc003ydp.1	+	7	1024	c.955A>C	c.(955-957)Aag>Cag	p.K319Q		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	319					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGCATATGTAAAGCTGAAGGA	0.353000														81			29		0	0	0.812448	0	0
MGA	23269	broad.mit.edu	37	15	42034889	42034889	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr15:42034889C>T	uc010ucy.2	+	14	4912	c.4731C>T	c.(4729-4731)gtC>gtT	p.V1577V	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Silent_p.V193V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1577						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGTAATGGTCGTCACACCTG	0.498000														13			15		0	0	0.500413	0	0
ACACA	31	broad.mit.edu	37	17	35562785	35562785	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr17:35562785A>G	uc002hnm.3	-	33	4029	c.3838_splice	c.e33-1	p.V1280_splice	ACACA_uc002hnk.3_Splice_Site_p.V1202_splice|ACACA_uc002hnl.3_Splice_Site_p.V1222_splice|ACACA_uc002hnn.3_Splice_Site_p.V1280_splice|ACACA_uc002hno.3_Splice_Site_p.V1317_splice|ACACA_uc010cuy.3_Splice_Site	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1280					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)	ATCCCTGGGAACCTGTAACTC	0.398000														93			26		0	0	0.706142	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55316267	55316267	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr19:55316267C>T	uc010yfl.2	+	2	123	c.90C>T	c.(88-90)ttC>ttT	p.F30F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Silent_p.F32F|KIR3DL2_uc002qhi.3_Silent_p.F32F|KIR3DL2_uc021vbn.1_Silent_p.F32F|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Silent_p.F32F|KIR3DL2_uc010esd.3_Silent_p.F32F|KIR3DL2_uc010ese.3_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	125					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACAAGCCCTTCTGCTCTGCCT	0.567000														6			5		0	0	0.335167	0	0
TNXB	7148	broad.mit.edu	37	6	32052356	32052356	+	Silent	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:32052356C>T	uc003nzl.2	-	7	3481	c.3279G>A	c.(3277-3279)gtG>gtA	p.V1093V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1180	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTACTGGATCACGAAGGAGT	0.657000														23			10		0	0	0.435327	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854670	18854670	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:18854670C>T	uc021qvx.1	-	7	1096	c.905G>A	c.(904-906)gGa>gAa	p.G302E	PLCZ1_uc001rdv.4_Missense_Mutation_p.G198E|PLCZ1_uc001rdw.4_Missense_Mutation_p.G43E|PLCZ1_uc001rdu.1_Missense_Mutation_p.G43E|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	302					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTAAGGTTCCTATTTTCTT	0.363000														6			4		0	0	0.248553	0	0
LOC401010	401010	broad.mit.edu	37	2	132201927	132201927	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:132201927G>A	uc002tst.2	-	0	541	c.75C>T	c.(73-75)ttC>ttT	p.F25F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CAGCTGCTCCGAATGCCTGTA	0.537000														20			6		0	0	0.217242	0	0
INO80D	54891	broad.mit.edu	37	2	206911278	206911278	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:206911278G>A	uc002vaz.4	-	4	1428	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	341					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						CAACCTGGTAGGGCGAGGCCT	0.458000														35			36		0	0	0.870114	0	0
GABRQ	55879	broad.mit.edu	37	X	151818907	151818907	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:151818907G>A	uc004ffp.1	+	6	785	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	255						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACATACGCCTGATACTGAAGT	0.517000														147			16		0	0	0.575678	0	0
TEKT4P2	100132288	broad.mit.edu	37	21	9907319	9907319	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr21:9907319G>A	uc021wgx.1	-	3	542	c.462C>T	c.(460-462)ttC>ttT	p.F154F	TEKT4P2_uc002zka.2_3'UTR					Homo sapiens tektin 4 pseudogene 2 (TEKT4P2), transcript variant 2, non-coding RNA.																		GGCGGTCGATGAAGAGACTGT	0.592000														24			13		0	0	0.500413	0	0
ADAM29	11086	broad.mit.edu	37	4	175898946	175898946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr4:175898946C>T	uc003iuc.3	+	4	2940	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	ADAM29_uc003iud.3_Missense_Mutation_p.S757F|ADAM29_uc010irr.3_Missense_Mutation_p.S757F|ADAM29_uc011cki.2_Missense_Mutation_p.S757F|ADAM29_uc021xuo.1_Missense_Mutation_p.S757F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	757	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)		GTGATGCCTTCCCAGAGTCAA	0.562000														32			84		0	0	0.870114	0	0
KSR2	283455	broad.mit.edu	37	12	117962701	117962701	+	Silent	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:117962701G>A	uc001two.2	-	13	2143	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	725	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCACCCATGAAAAGCACCA	0.577000														16			8		0	0	0.335167	0	0
TNXB	7148	broad.mit.edu	37	6	32026050	32026050	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr6:32026050G>A	uc003nzl.2	-	21	7812	c.7610C>T	c.(7609-7611)tCg>tTg	p.S2537L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2597	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAGGCTCAGCGAGTCAGGGGA	0.687000														46			7		0	0	0.335167	0	0
OR51D1	390038	broad.mit.edu	37	11	4661207	4661207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr11:4661207C>T	uc010qyk.2	+	0	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	63					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)		CCTCATCATTCGTGTGGAGAG	0.542000														9			30		0	0	0.812448	0	0
METTL8	79828	broad.mit.edu	37	2	172195817	172195846	+	In_Frame_Del	DEL	ACCAGAACTTTTCTCATAATGATTTTTTTC	-	-			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr2:172195817_172195846delACCAGAACTTTTCTCATAATGATTTTTTTC	uc010zdo.2	-	3	595_624	c.454_483delGAAAAAAATCATTATGAGAAAAGTTCTGGT	c.(454-483)gaaaaaaatcattatgagaaaagttctggtdel	p.EKNHYEKSSG152del	METTL8_uc002ugu.4_In_Frame_Del_p.EKNHYEKSSG152del|METTL8_uc002ugt.4_In_Frame_Del_p.EKNHYEKSSG152del|METTL8_uc002ugs.4_In_Frame_Del_p.EKNHYEKSSG102del|METTL8_uc010zdp.2_In_Frame_Del_p.EKNHYEKSSG107del	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	Homo sapiens methyltransferase like 8 (METTL8), mRNA.	152							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CTTCTGAAGAACCAGAACTTTTCTCATAATGATTTTTTTCATCAGGCACA	0.383													---	62	---	---	16	---					
PKD1L1	168507	broad.mit.edu	37	7	47832245	47832245	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr7:47832245delA	uc003tny.2	-	55	8540	c.8506delT	c.(8506-8508)tctfs	p.S2836fs	C7orf69_uc003tnz.4_5'Flank|C7orf69_uc003toa.1_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2836					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						TGGTAACTAGAAATGTCCACT	0.393													---	128	---	---	94	---					
ADAM2	2515	broad.mit.edu	37	8	39604019	39604020	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:39604019_39604020insT	uc003xnj.3	-	18	2220_2221	c.2145_2146insA	c.(2143-2148)aaatggfs	p.K715fs	ADAM2_uc003xnk.3_Frame_Shift_Ins_p.K696fs|ADAM2_uc011lck.2_Frame_Shift_Ins_p.K652fs|ADAM2_uc003xnl.3_Frame_Shift_Ins_p.K559fs	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	715					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCAGTTCTCCATTTTTTCCTTT	0.292													---	61	---	---	40	---					
CYP7B1	9420	broad.mit.edu	37	8	65509352	65509352	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr8:65509352delA	uc003xvj.2	-	5	1572	c.1368delT	c.(1366-1368)cttfs	p.L456fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	456					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTATTTCCATAAGTGCAAAAA	0.353													---	25	---	---	21	---					
CEP290	80184	broad.mit.edu	37	12	88449444	88449444	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr12:88449444delT	uc001tar.3	-	49	7213	c.6869delA	c.(6868-6870)aatfs	p.N2290fs	CEP290_uc001taq.3_Frame_Shift_Del_p.N1350fs|BC033323_uc001tas.3_Intron	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2290					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AATGCTTTGATTTTTTTTGGC	0.299													---	5	---	---	3	---					
IL27	246778	broad.mit.edu	37	16	28511176	28511178	+	In_Frame_Del	DEL	CTC	-	-			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr16:28511176_28511178delCTC	uc002dqc.3	-	4	549_551	c.526_528delGAG	c.(526-528)gagdel	p.E176del	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	176	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding	p.E176delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCCCCTtcctctcctcctcctcc	0.685													---	4	---	---	2	---					
ZBTB7C	201501	broad.mit.edu	37	18	45555705	45555705	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chr18:45555705delC	uc010dnv.3	-	3	2288	c.1852delG	c.(1852-1854)gccfs	p.A618fs	ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.A596fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.A605fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.A596fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	596						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCGGCGGCCCAAGGGTCG	0.736													---	4	---	---	2	---					
VSIG1	340547	broad.mit.edu	37	X	107315930	107315930	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3MV-06A-11D-A21A-08	TCGA-D3-A3MV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b65a17-69a7-4dd5-937c-8e047bb1cf93	0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19	g.chrX:107315930delA	uc011msk.2	+	4	705	c.544delA	c.(544-546)agcfs	p.S182fs	VSIG1_uc004eno.3_Frame_Shift_Del_p.S146fs	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	146	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCCCTTTGTAGCGTTCAAGG	0.443													---	56	---	---	39	---